CARDIOLOGY

General observation:- as usual + cyanosis + surroundings + Growth + dysmorphic features

Examination:-

Hand:- Cases

 VSD
 Clubbing  PS
 Cyanosis  AS
 Pallor  AR
 MR
 Stigmata of endocarditis
 TOF
 Pulse ( first count on one side then check bilateral for equality )  COMPLEX CYANO
Rate, rhythm, volume, equality on both sides  PDA
(if you are not sure about the pulse or weak or not detected….>> please do
not talk at all, but just keep in mind AS ?? and rate till the end)
 WATER HAMMER PULSE

Head:-
Syndromes
 Conjunctiva ( pallor / Jaundice : if you suspect Alagille )
 Down
 Stick your tongue out ( cyanosis )  Turner
 Teeth  Noonan
 Williams
Neck:-  Marfan

 Palpate carotids for thrill

Inspection :- : Expose the chest and inspect for five things:

 Scars
 Precordial pulge ( feet and side of the patient)
 Visible pulsations
 Dilated veins

palpation:-

 Apex
 Thrills: upper lt sternal>>>PS
Upper Rt sterna>>>AS
 Lower Lt sternal>>>>VSD
Suprasternal>>>>>>AS

Auscultation:-

 FRONT :- 4 areas + Axilla

 1st and 2nd heart sound
 MURMUR
 Apex >>>>mitral>>>if + >>>>>Axilla
 Lower Lt sternal border>>>>>Tricuspid, VSD, AVSD
 Lt 2nd intercostal>>>>>>>>>>Pulmonary, PDA
 Rt 2nd intercostals>>>>>>>>>Aortic
o RADIATION
 To neck>>>carotid
 To back>>PS (between scapulae)
 To Axilla>>Mitral
 To tip of the Lt scapula>> coarctation
 To most of the chest wall>> VSD ( not to the back)
o Comment on a murmur :
 Timing, grade, max. heard at, radiated to, and changing with
position
for example:- harsh pan systolic murmur, grade 3, heard all
over the precordium with maximum intensity over the apex,
radiated to the axilla, not changing with repositioning.
ABDOMEN:-

 Inspection:- scars of PD post bypass surgery.

 Palpation / percussion:- hepatomegaly, liver span, ascites … splenomegaly ??

Back :- “HUG your SELF”

 Scars
 Scoliosis
 Auscultate :- interscapular + lung bases for crepitations

In order to complete:-
 BP
 JVP
 Peripheral pulses including femorals for Radio-femoral delay
 Examine the groin for any catheter or central lines scars
 Examine lower limbs and sacrum for edema
 Fundoscopy / dipping urine for evidence of infective endocarditis
 O2 saturation
 Look at chest x-ray & ECG VSD

SUMMARY:- folan … yrs old , on

examination he was found to
have no clupping, pallor or
cyanosis, his pulse rate … regular
and of good volume, no water
hammer pulse, average dental
hygiene, on cardiac examination
:- by inspection no scars or
dilated veins or visible pulses,
APEX:- on the lt midclavicular line
5th space, there is palbable thrill
along the lt sternal border, by
auscultation there are normal
heart sounds S1 and S2, there is
harsh pan systolic murmur, grade
4, best heard in lower lt sternal
border , not radiated, and not
changeable with positioning, no
basal lung crepitations. From
these findings , folan is a case of
acyanotic congenital heart
disease most probably VSD ,
which is compensated with no
signs of heart failure. In order to
complete my examination:-
I'd like to check his BP , and
femoral pulse, O2 saturation, JVP
, to look at his chest x-ray and
ECG.
 RESPIRATORY
General observation:- as usual + cyanosis + distress + surroundings + Sputum Pot

Examination:-

Hand:- Cases

 Clubbing  Asthma
 Cyanosis  Cystic fibrosis
 Pallor  Bronchiectasis
 Pulse  Kartagner
 CP + Pneumonia
Head/Neck:-

 Conjunctiva ( pallor )
 Stick your tongue out ( cyanosis )
 Teeth
 Lymph nodes
 Trachea
Front EXPOSE THE CHEST
inspection:-

 RR
 ‫ من عند الرجلين‬asymmetry, movement
 ‫ من الجنب‬Antro posterior diameter ( ^ in asthma )
 ‫ عادي‬Scars,Shape ( normal, Barrel ) Deformity ( pectus carinatum, excavatum,
Harrison's sulci )

Palpation:-

 Apex
 Chest expansion

Percussion:-

 Apex of the lung + clavicle + upper + middle + lower + liver span

Auscultation:- For air entry, breath sounds and additional sounds

 Upper + middle + axilla + lower

 Back Hug yourself
inspection:-

 Scars + Kyphosis + scoliosis

Palpation:-

 Chest expansion

Percussion:-

 Suprascapular + paravertebral + subscapular

Auscultation:-

 Suprascapular + paravertebral + subscapular

Your management?

 In asthma:
1. I have to take a thorough history about his condition , compliance on medications,
inhalation techniques, counseling about preventers( Asthma)
2. I would like to do some investigations
CBC, PEFR, peak flow diary (diurnal variation), PFT (> 5 years), oxygen saturation, x
ray chest.
3. MDT involvement in the form of the pulmonologist, my consultant, dietician, school.
 In CF:
1. Through family history, genetic counseling, neonatal history, surgical history, diet (
high calorie high protein) medications(pancreatic enzyme supplements, vitamins,
antibiotics), physiotherapy and compliance.
2. Hospital admission , saturation monitoring, Sweat test, blood cultures, sputum
culture, inflammatory markers, immunoglobulins, peak flow, PFT, CBC, x ray chest
3. (CF TEAM) in the form of pulmonologist, my consultant,
phisotherapist,gastroenterologist and hepatologist, endocrinologist, dietician,
psychologist and school.
 Cystic fibrosis

SUMMARY :- Folan 13 yrs old child, on

examination he was found to have :-
clubbing but no cyanosis, on inspecting
the chest there was symmetrical shape
and decreased movement on the rt side
, with normal Anteroposterior diameter
, no scars, by palpation: trachea central,
Apex in the 5th intercostals space
midcalavicular line, chest movement
decreased on the rt side, on percussion
there is dullness on the rt side, on
auscultation : vesicular breath sound
with crepitations on the rt side, with
these finding I can put Chronic
suppurative lung disease as a
differential diagnosis like Cystic fibrosis
and bronchiechtasis, IN ORDER TO
COMPLETE MY EXAMINATION I'd like to
take full history and examine the:-

 Lymphnodes
 ENT
 BP
 BCG scar
 O2 Saturation
 PEFR
 Look at chest X-Ray
 ABDOMEN

ABDOMEN

NO CLUBBING CLUBBING

No Jaundice Jaundice No Jaundice Jaundice

Chronic
Storage IBD, Cystic Chronic Liver
Hemolytic
disease Fibrosis, Celiac Disease
Disease

Other cases:- HEPATOMEGALLY FOR DD, HSM FOR DD

General Observation:- usual +

Examination:-

Hand:-

 CLUBBING
 Cyanosis
 Pallor
 Liver failure stigmata ( palmer erythema , astrixes )
 Pulse
 look to the forearm may be a site for heomodyalisis

Head:-

 Eye:- ( JAUNDICE)
  Mouth:- dental caries(reflux), tongue ulcers or pigmentations

Neck:-

 LN
 Spider Naevi
EXPOSE CHEST AND ABDOMEN
CHEST:-
 Gynecomastia
 spider naevei
 subclavian scar ( site for hemodialysis )

Inspection Abdomen:-

 Shape / contour / distension

 Scars
 Dilated veins
 Umbilicus shape and position
 Hypo or hyperpigmentations( thalassemia… desferral)

Palpation Abdomen:- ‫ اتكلم معاه‬،‫ اسأله لو فيه حاجة بتوجعه‬،‫دفي ايدك‬

 Superficial for tenderness & rigidity

 Deep for:-
o liver ( tenderness, size below costal margin, span, surface
<smooth/nodular> , border < sharp/rounded>, Consistency
< firm/hard> )
o Spleen ( same + Notch, move with respiration, can get above it)
o Kidneys ( Ballotable )

Percussion :-

 For ascitis  Shifting dullness if there is ascitis

 Liver span
 To differentiate between SPLEEN (dull) & KIDNEY (resonant)

Auscultation:-
  Bowel sounds
 A-V fistula if present
 Renal angles for renal artery stenosis
 Bruit of enlarged liver or suspected renal problem
LOWER LIMBS:- for ( erythema nodosum, oedema, ulcers in sickle cell)
BACK:- Scars, scoliosis, auscultate renal angles
In order to complete:-
 Genitalia
 Hernial orifices
 Anal and rectal examination
 Pubertal assessment using the Tanner’s scoring system
 Lymph nodes examination
GLYCOGEN STORAGE
Summary :- folana 13 yrs old child, on
examination she was found to have No clubbing ,
no cyanosis, no jaundice, no stigmata of chronic
liver disease,average dental care, her face looks
like doll face, on abdomen examination : she has
distended abdomen , with no scars or dilated
veins, umbilicus with normal shape and position,
on palpation there is no tenderness , I could
palpate a mass in the rt hypochondrium which is
most probably an enlarged liver :with the rt lobe
span 14 cm and lt lobe span 10 cm with rounded
border, firm consistency, smooth surface , there
is no palpable spleen, or kidneys, by percussion
there is no ascites, bowel sounds are audible but
no audible bruit., with these finding I will put
Storage disease on top of my differential
diagnosis list, most probably Glycogen storage
disease. IN ORDER TO COMPLETE MY
EXAMINATION I'd like to take a full history and
examine :-
 The back
 The genitalia
 Hernia orifices
 Anal and rectal examination
THALASSEMIA
Summary :- folana 11 yrs old child, on
examination he was found to have No clubbing ,
no cyanosis, yellowish tinge of the sclera, no
stigmata of chronic liver disease, average dental
care, he has unusual facial features in the form
of apparently large head though I'd like to plot
HC on appropriate centile chart, And mandibular
prognathism, maxillary prominence, On
abdominal examination: he has distended
abdomen , with 6 cm scar in the lt
hypochondrium most probably splenectomy
scar, there are some small dark scars scattered
allover the abdomen , no dilated veins,
umbilicus with normal shape and position, on
palpation there is no tenderness , I could palpate
a mass in the rt hypochondrium which is most
probably an enlarged liver :with the rt lobe span
14 cm and lt lobe span 10 cm with rounded
border, firm consistency, smooth surface , there
is no palpable spleen, or kidneys, by percussion I
cannot appreciate ascetic fluid, bowel sounds
are audible but no audible bruit. with these
finding I will put Chronic Hemolytic Anemia on
top of my differential diagnosis list, most
probably Beta thalassemia major bcz the child is
Mediterranean. IN ORDER TO COMPLETE MY
EXAMINATION I'd like to take a full history and
examine :- ( as scheme )
= Hematologist for hyper infusion, iron chelation
MANAGEMENT:
 I would like to take a detailed history, his medications
 Investigations: CBC, RFT, ABG, GFR, SERUM FERRITIN, PROTEIN AND
ALBUMIN, CA, PO4, ALP AND X-RAY LEFT WRIST, MONITOR B/P AND
URINE
 MDT in the form of :- My consultant =Nephrologist =Surgeon =dietician
= immunologist =psychologist =support group =health visitor =school

COMPLICATIONS OF KIDNEY TRANSPLANT:

.Rejection .infection .recurrence ( autoimmune) .leaking . Thrombosis

. post transplant lymphoreticular disease . Side effects of steroids

. Side effects of heamodyalisis:- hypotention and electrolytes disturbance.

NOTES ON THALASSEMIA:

Investigations:

CBC+ Blood film ( microcytic hypochromic anemia, target cells, basophilic

stippling and nucleated RBC), Ret% + bilirubin, Liver function

Hb electrophoresis( HbF 70%-90%, HbA 10-20%, HbA2 2%).

MANAGEMENT:

 Transfusions>> 4-6 weekly, First time when Hb <6 g\dl

Then>> transfuse when Hb < 10 g/dl ( hypertransfusion regimen).
 Iron chelation>> SC Desferral( HMW… not oral) for 8-12 hours overnight 5
nights/week>> monitor ear , eye, Renal F. and bone..pseudorickets).
Measure serum ferritin (1000-2000ug/L) and baseline TFT
 Folic acid 5 mg/day
 Vit C 200 mg/day>> increase iron excretion
 Spleenectomy if> 6 years
 BMT
 Treat endocrine Side Effect
COMPLICATIONS:

1. Heamosiderosis:- heart failure, arrhythmia (cardiomyopathy), liver

cirrhosis. Hypothyroidism, Hypoparathyroidism, DM, hypopuituitarism &
delay puberty.
2. Desferoxamine SE>> hearing, visual and truncal shortening
3. Hazards of blood transfusion

N.B.>>>> in thalassemia with a splenectomy scar>> vaccines ( Hemoph.Infl. B ,

pn and Men C), penicillin for life

. HYPERTRANSFUSION REGIMEN:- Target> 10. Start blood transfusion if Hb <

7g/dl . start desferral if ferritin level > 1000ug\L

N.B. oral cheletor>> DEFERIPRONE >>SE>> neutropenia and arthropathy

>> deferasirox >> SE>> N, V,GIT SYMPTOMS, EYE, EAR and SKIN RASH.

INDICATIONS OF SPLEENECTOMY:

 HYPERSPLEENISM>>needs > 180-200 ml/kg/year of transfused blood.

 HUGE SPLEEN>>causing discomfort

COLLECTIONS:
1. HS>> never to be associated with hepatomegally
2. Jaundice+spleen>>> Thalassemia
3. Jaundice+Liver>>>> infection, sickle cell
4. Usually sickle cell>>Jaundice + anemia without spleen
5. Right scar 9 hypochondrial + spleen >>> HS + cholysystectomy
6. Left scar + Liver >>> Thalassemia
7. Transverse upper abd. Incision>> repair of congenital diaphragmatic
hernia.
8. Sickle Thalassemia can come in case of a huge spleen and just the liver
could be felt, th. Facies and may be dactylitis
CAUSES OF HEPATOMEGALLY:

1. Infection (hepatitis A,B, EBV)

2. Infiltration>>GSD and other storage diseases( Gaucher, NP)
3. Tumors
4. OBSTRUCTIVE>>Right sided heart failure and hepatic vein thrombosis.
5. Idiopathic
6. Miscellaneous >> Wilson, alpha 1 antitrypsin deficiency, congenital
hepatic fibrosis.

CAUSES OF SPLENOMEGALLY:

1. PORTAL HYPERTENTION
2. ITP
3. Myeloproliferative diseases
4. HS
5. SCD ( initially)
6. IMN

CAUSES OF HEPATOSPLEENOMEGALLY:

1. Congenital hepatic fibrosis

2. CF
3. Thalassemia
4. MPS

 N.B. in suspected cases of GSD( RENOMEGALLY): Investigations>>> CBC,

LFT, RFT, glucose, cholesterol level, TG, Uric acid (bruises may be
associated with Platelet dysfunction).
 To differentiate between type 1 and 3 :-give glucose and measure lactate
( in 1 decreased and in 3 increased).
 Advice for parents>> starch feeding, OGT feeds over night and finally liver
transplantation.
 Neurology
General obseravation:- as usual + dysarthria ? difficult speech? Deviated mouth?
Telangectasia? Squint? Nystagmus? Dysmorphism? Walking aids? Any specific surroundings
any specific posture

1. Ask the mother if he can walk

2. Ask the child to walk
3. First :- let him stand for inspection
4. EXPOSE & put off the shoes.
5. Inspection:- muscle bulk, scars? Any obvious deformity, inspect the shoes
6. Inspect the back :- any kyphosis, scoliosis, scars
7. GAIT :- ‫ اجري‬، ‫ جنب رجليك‬، ‫ كعب رجليك‬، ‫ طراطيف صوبعك‬،‫عادي‬

Spastic gait Waddling gait

Hemi/ diplegia Duchenne / proximal myopathy
= Normal speech , may be squint, walking = Normal speech , walking aids,
aids,
= Inspection:- No scars, hepertrophied
= Inspection:- scars, ~ normal muscle bulk calf, relatively small thigh.
or atrophy
= Waddling gait, LORDOSIS
= Spastic gait
= GOWER SIGN +ve
= Lye on the bed for motor examination of
= Lye on the bed for motor examination of
the LL
the LL
= Tone:- hyper tonia
= Tone:- hypotonia
= Power:- weakness
= Power:- weakness
= Reflexes:- hyper reflexia
= Reflexes:- absent knee, may be present
= Babeniski:- dorsi flexion ankle
= Clonus:- +ve = Babeniski:- -ve Babeniski sign
= I’d like to examine the motor function of = Clonus:- don’t do
the UL:- Tone , power , reflexes
= I’d like to examine the motor function of
= In order to complete my examination I’d the UL:- Tone , power , reflexes
like to examine the cranial nerves and the May be proximal weakness
sensation
 Unsteady gait High steppage gait
ataxic gait peroneal ms atrophy
Ataxia telangectasia = Normal speech , may be walking aids,
Freidriech’s ataxia
= Inspection:- No scars, inverted
= Difficult speech , may be Dysarthria, chapmaign bottle, distal atrophy
Nystagmus, walking aids,
= High steppage gait
= Inspection:- No scars, ~ normal muscle
bulk or atrophy = lye on the bed for Motor examination of
the LL
= Ataxic gait
= Tone:- hypotonia
= Stand still, tandem gait
= Power:- weakness, more distal
= Romberg’s sign ( ask the examiner’s
= Reflexes:- hyporeflexia
permission )
= Babeniski:- -ve
= Lye on the bed for coordination
examination = Clonus:- don’t do !

= finger to nose = I’d like to examine the motor function of

the UL
= finger to my finger
Tone , power , reflexes
= dysdyadokokinesia
= In order to complete my examination I’d
= heal knee test like to examine the cranial nerves and the
sensation
= lye on the bed for Motor examination
of the LL

= Tone:-

= Power:-

= Reflexes:-

= Babeniski:- dorsi flexion In Freidriech’s

= Clonus:- don’t do !

= I’d like to examine the motor function of

the UL:- Tone , power , reflexes

= In order to complete my examination I’d

like to examine the cranial nerves and the
sensation
 In Order to
Hemi / Di Complete:- Sensory,
Cranial nerves (
Plegia especially if there is
squint)

General observation:- eye ( Upper limb motor

squint / telangectasia)
- Facial asymmetry ( exam.:- Inspect,
Facial Palsy ) Tone , Powe
- Aids, Unusual facial reflexe
features

Tone, power
(erfa3 reglak, zo2
Ask If movable ,
2edy ) , reflexes+
Expose L.L.
Babeniski+ clonus.

Hemiplegic Gait:- Lye on Bed For

normal,tip toe, Motor Exam. OF
heal, side of LL
foot,run.

inspection:- Back:- Kyphosis,

Muscle bulk,scars, Scoliosis, Scars.
Flexion posture
. MANAGEMENT:

1. FIRSTLY I would like to take a thorough history from the mother in

the form of perinatal, natal and postnatal histories, any history of
trauma infection or any family history of similar condition, also I
want to make a full developmental assessment.
2. Investigations in the form of CBC, coagulation profile, protein C&S,
and anti thrombin III levels, sickle cell screening and MRSA scan.
3. MDT in the form of:
.my consultant
.neurologist ( head of the team)
.physiotherapy
.Occupational th.
.orthopedic surg.
.ophthalmologist(+/-)
.ENT (+/-)
.speech th.(+/-)
.hematologist
.community ped.
.dietician
.psychologist and school
=-=-=--=--=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-==-=-=-=-=-=-=-==-===-
DIPLEGIA

 Upper limb examination

o 1)Tone
o 2)Muscle power
o 3)reflexes
ALL BETTER COMPARED TO LL
 QUADRIPLEGIC CEREBRAL PALSY
 General observation:-

o Talk to the child ( raport and dysarthria), YES TALK THE CHILD (many of
these patients are intelligent, also exclude hearing loss, speech disorder,
visual loss)
o Well, I’m examining a ……, he is not able to follow me so I would like to
make a formal visual assessment at the end of my examination; also I
would like to assess his hearing and speech. He has a windswept
deformity, multiple contractures; he has an apparently small head I would
like also to put his HC on the appropriate Growth chart.
o Comment on teeth, drooling or anything abnormal in his face( adenoid
facies or abnormal respiratory noises or snoring if he is sleeping), shunt…
o wheel chair???? or …….

 Examination:-
 Inspection:-

1. Symmetry in length (difficult due to deformities, windswept…..,

inversion….adduction)

2. Muscle bulk (decreased)

3. Scars??..... It will be difficult to access.

4. Pigmentation

o Back examination:- ( scoliosis), nappies, gastrostomy, bed sores…..

 LL Motor Examination :
1. Tone ( increased)

2. Muscle power(decreased)

3. Reflexes( exaggerated, but could be lost in severe deformities),

4. Clonus and babiniski exaggerated.
 Upper limb examination:
 Same as LL hypertonia, hyperreflexia with decrease muscle power

 Thank the child or the mother and cover him

 At the end of examination I would like to examine for hearing, vision and speech
and cranial nerves
 N.B. if associated With choreoathetotic mov.>> lesion involved the extrapyramidal
tract.( Kernectirus).

 Discussion:-
I examined a 6 y old boy he is looking small for his age so I want to plot his
measurements on the appropriate growth chart.
Ahmed has a windswept deformity(risk for hip dislocation) with multiple flexion
deformities in LL and UL, hypertonia, hyperreflexia, Bab. +,with apparently small
head, he was not responding to me , and was not able to follow my hands, so I have
to check his vision, hearing and speech. So this is a case of UMNL in the form of
quadriplegic CP.

 MANAGEMENT:

1) FIRSTLY I would like to take a thorough history from the mother as pre natal, natal
and postnatal.

2) Investigations: CT, MRI, vision , hearing and full developemental assessment.

3) MDT in the form of:

.my consultant .neurologist ( head of the team) .physiotherapy

.Occupational th. .orthopedic surg. .community ped.

.dietician .psychologist . Sp.school

. Support groups . Social worker .opthalmologist

.ENT .Respite care

Types of CP:
(a) SPASTIC (b)ATAXIC (c) DYSKINETIC
 DUCHENNE

In Order to Complete:-
General
Sensory, Cranial nerves
observation:- - Aids,
( especially if there is
Unusual facial
squint)+ CVS
features

Upper limb motor

Ask If movable , exam.:- Inspect, Tone ,
Expose L.L. Power reflexes, scapula
winging

Waddling Gait with Tone, power (erfa3

lordosis:- normal,tip reglak, zo2 2edy ) ,
toe, heal, side of reflexes+ Babeniski+
foot,run.

inspection:- Muscle
bulk ( Calf Lye on Bed For Motor
hypertrophy) , NO Exam. OF LL
scars.

Back:- Kyphosis,
Scoliosis, lordosis
Scars
GOWER TEST
 Discussion:
I examined a 6 y old boy he is looking small for his age so I want to plot his
measurements on the appropriate growth chart.
Ahmed has a waddling gait, scoliosis, positive Gower’s sign denoting proximal muscle
weakness. I also observed pseudohypertrophy of the calf muscles and there’s decreased
muscle bulk, power, tone and reflexes proximal more than distal.
So this is a case of LMNL , affecting proximal muscles in a male child , so this is most
probably a case of DMD.

. MANAGEMENT:
1) FIRSTLY I would like to take a thorough history from the mother complete family history
of similar condition, making genetic counseling and developmental history.

2) Investigations in the form of genetic test(xp21)>>DNA (decreased dystrophin gene), CPK,

EMG,muscle biopsy

3) MDT in the form of:

.my consultant
.neurologist ( head of the team)
.physiotherapy
.Occupational th.
.orthopedic surg.
.community ped.
.dietician
.psychologist
.school
.genetist
.cardiologist

DD>>> KUGELBURG WALLENDER(SMAIII):

+ Gower’s, waddling gait ( as DMD)
Hypotonia, hyporeflexia, and decreased PROXIMAL muscle power.
+++++ WINGING OF THE SCAPULA
+++++ TONGUE FASCICULATIONS(LMNL)
DD: WITH LIMB GIRDLE MUSCLE DYSTROPHY ( to differentiate>>> DNA, EMG and NCS).
IN MYOTONIC DYSTROPHY:
Hold the mother’s hand
Expressionless face
Hypotonia , hyporeflexia
Do EMG

CONGENITAL MYOPATHY:
Hypotonic posture
Myopathic expressionless face
Hypotonia , hyporeflexia, no reflexes
Sensation intact and nothing in the back( # Spina bifida)

CAUSES OF EXPRESSIONLESS FACE:

1. Myopathies
2. Myotonic dystrophy
3. Mitochondrial diseases
4. Myasthenia gravis
5. Fascioscapulohumeral Muscle Dystrophy
Peroneal Muscle
Atrophy

General
observation:- - Aids,
Unusual facial
features

In Order to Complete:-
Ask If movable , Sensory( lost fine touch&
Expose L.L. position, Cranial nerves (
especially if there is
squint)

High Steppage Gait :-

Upper limb motor
normal,tip toe, heal,
side of foot,run. exam.:- Inspect, Tone ,
Power reflexe

inspection:- Muscle
bulk ( Distal Atrophy) Tone, power (distal
+PESCAVUS , NO weakness+ foot drop+
scars. weak dorsiflexion) ,
reflexes+ Babeniski

Back:- Kyphosis,
Scoliosis, lordosis Lye on Bed For Motor
Scars Exam. OF LL
Freidrichs Ataxia/
Ataxia Telangectasia
Cerebellar ataxia

General observation:- In Order to Complete:Motor of the

- Eye( Nystagmus /telangectasia UL, ,Sensory, Cranial nerves,
- Dysarthria / difficult speech cardiac examination( hypertrophic
- Aids, Unusual facial features cardiomyopathy in freidrich's )

Ask If movable , Tone, power (erfa3

Expose L.L. reglak, zo2 2edy ) ,
reflexes+ Babeniski

- Finger to Nose
Ataxic Gait:- normal,tip - Finger to my finger
toe, heal, Tandem , - Dysdyadokokynesia>7Y
Stand Still. - Heel shin test+position sense

Romberg's ( ask Lye on Bed For

examiner's permission) Coordination Exam.

inspection:- Muscle Back:- Kyphosis, Scoliosis,

bulk,pes cavus, NO scars. Scars.
 1. CEREBELLAR ATAXIA( MORE COMMON)-ve Romberg’s
2. FREIDRICK’S ATAXIA( hypotonia, hyporeflexia,+BAB.& +
ROMBERG’S)>>>> spinocerebellar degeneration( sensory
post.colon)
3. Ataxic CP ( Ataxia+Diplegia)

 At the end of examination:

o if FREIDRICH’S I would like to examine for CVS and eyes ( optic atrophy),
blood sugar monitoring
o If Ataxia telangectasia : I would like to examine for eyes, exclude
immunodef. Or lymphoreticular malignancy
 PrognosisFREIDRECK’S:-
 Mainly supportive
 Progressive ataxia and wheelchair at mid-twenties, death 40 or 50 y of age in
most cases.
 75% scoliosis
 Hypertrophic cardiomyopathy, angina, arrhythmia >>> death cause

 MANAGEMENT:
1. FIRSTLY I would like to take a thorough history from the mother about
infection or trauma, doing genetic counseling (FREID.) and AT.
2. Investigations : blood sugar, ECHO (FR.) or decreased Immunoglobulins
(IgA.IgG), screening for malignancies (AT) , increased alpha FP.
3. MDT in the form of:
.my consultant
.neurologist ( head of the team) + CADRIOLOGIST
.physiotherapy
.Occupational th.
.opthalmologist(+/-)
.speech th.(+/-)
.dietician
.psychologist
.genetist+/-
 SPINA BIFIDA
General observation:- Wheel chair, Large head ( plot HC on the
appropriate chart ) , VP shunt, Frog leg position(abduction and
external rotation at the level of the hip joints with knee flexion.), Diaper.

Conscious level:- No abnormal movements, he is well oriented to the surrounding

Lower Limb Examination:-
Inspection:- Wasting, Scars, bed sores, leg length
Tone:- Hypotonia
Power:- Weakness grade 0-1 ‫ارفع رجلك‬
 If not able to lift leg ( hip flexion)  lesion above L1
 If able to lift leg ( hip flexion ) lesion below L1

Reflexes:- Hyporeflexia / Areflexia

Back:- Scar of spina bifida (lumbar scar :- mid back scar at the lumbar region
and measure it)

In Order to complete:-
 Sensory examination for sensory level
 Ulcers
 Bed sores
 Head circumference
 Abdominal examination ( neurogenic bladder, scar of VP
shunt )
 Anal examinatio
 Discussion:
I examined a 6 y old boy he is looking small for his age so I want to plot his
measurements on the appropriate growth chart.
Ahmed has a hypotonic posture, unable to sit or move the lower part of his body in the
form of hypotonia and hyporeflexia with decrease muscle power and negative Babiniski
sign, he has a scar in his lower back with shunt from his head reaching the Rt
hypochondruim. So I believe this is a case of operated spina bifida most commonly due
to Arnold Chiari type II

. MANAGEMENT:
1)FIRSTLY I would like to take a thorough history from the mother( folic) complete family
history .

2)Investigations in the form of CT, MRI and urine(UTI)

3)MDT in the form of: .my consultant .neurologist ( head of the team) .physiotherapy
.Occupational th. .orthopedic surg. .community ped. .dietician .psychologist .school
.Urologist (Intermittent cath.) and antibiotic prophylaxis

Advice to the patient:- if he is going to surgical operation I should advise him that he may
has LATEX ALLERGY

COMPLICATION OF SHUNT:

 INFECTION
 OBSTRUCTION
 SLIT VENTRICLE SYNDROME( OVER DRAINAGE>>HEADACHE)

 PERITONITIS OR FIBROSIS

SENSATION
 INGUINAL REGION>>L1
 MED. SURFACE OF THE UPPER THIGH>>L2
 MED. SURFACE OF THE LOWER THIGH>>L3
 MED. SURFACE OF THE LEG>>>>L4
 LAT. SURFACE OF THE LEG>>>>L5
 LAT. SURFACE OF THE FOOT>>>S1
 THEN >>> POSTERIORLY>> MED. SURFACE OF THE UPPER CALF>>.S2
 MED. SURFACE OF THE INNER THIGH S3
 PERIANAL AREA>>>S4
REFLEXES:- BICEPS:- C5,C6 TRICEPS:- C7,C8 KNEE:- L3,L4 ANKLE:- S1,S2
 Werding Hoffman
General observation:-
Infant, Alert, moving his eyes interested in the surroundings, frog leg position,
Paucity of movements, bell shaped chest, paradoxical sea saw respiration

Examination:-
open mouth to see the fasciculations.

1- Head Support
2- Truncal Support
3- Vertical Suspension
4- Ventral Suspension
5- Prone position
6- Moro Reflex ( ask parent’s permission )
7- Tonic Neck Reflex
8- Grasp Reflex
9- Parachute Reflex

Tone:- generalized hypotonia.

Tendon reflexes are absent.

 INFANT APPROACH
General observations:- as usual + posture ( frog leg position,
unilateral paucity of movement, bilateral paucity of movements,
scissoring, arching ) + awareness, following?

EXAMINATION:-
 open mouth to see the fasciculations.
 Head Support
 Truncal Support
 Vertical Suspension
 Ventral Suspension
 Prone position
 Sitting ?
 Standing ?
 TONE, POWER, REFLEXES ( don’t do babiniski !! )

 Finally examine the persistence of the primitive reflexes

 Moro Reflex ( ask parent’s permission )
 Tonic Neck Reflex
 Grasp Reflex
 Parachute Reflex

 DD: SMA, HYPOTONIA FOR DD, CP.

 Erbs'S
PALSY

General observation:-
- Posture, Deformity

Function:-
‫سرح شعرك‬-
‫ زق الحيطة‬-
‫ امسك القلم واكتب اسمك‬-

Inspection:-
- Posture
- Deformity
- Scar ( axillary )

Upper limb motor In Order to

Complete:- Sensory
exam.:- Tone , of the UL + Motor
Power, reflexe LL+ CR nerves
 CRANIAL NERVES
I.OLFACTORY :- Ask about sense of smell

II. OPTIC:-
 Visual acuity:- Establish if the child can see :- read, count finger, hand movement
 Visual field:- confrontation test

III, IV, VI occulomotor, Trochlear, Abducent:-

‫ اقوله خليك باصص ع القلم ولو شوفت‬،‫ أحط ايدي علي أورته علشان أثبت راسه‬، ‫ أخلي الواد يغمي عينه بإيده‬
.‫) وبعدين أعمل العين التانية‬H shaped( ‫ احرك القلم في كل االتجاهات‬،‫القلم اتنين قوللي‬
 Check for nystagmus, normally present at extremes of gaze

V. TRIGEMINAL:-
 SENSORY:-
‫غمض عينيك‬ 
‫لما تحس اني بلمسك قول نعم‬ 
‫ خده ودقنه في النحيتين‬، ‫ألمسه بقطنة في أورته‬ 
 MOTOR
deviation ‫افتح بقك وشوف لو فيه‬ 
‫اقفل بقك وجز علي اسنانك‬ 
TEMPORALIS & MASSETER ‫احس بأيدي ال‬ 

VII. FACIAL:-
‫ارفع حواجبك‬ 
‫اقفل عينيك جامد‬ 
‫ماتخلينيش افتحهم‬ 
‫وريني اسنانك‬ 
‫صفر أو انفخ‬ 

VIII. VESTIBULO-AURICULAR:-
‫ اسأل األم علي السمع‬
‫ اقفل ودن واهمس في الودن التانية رقم واسأله عليه‬
1- test hearing and speech 
2- Weber and Rinne tests 
IX. GLOSSOPHARYNGEAL:-
 Gag reflex )01 ‫ وراجع في‬9 ‫قوله ماتعملوش (رايح في‬

X. VAGUS:-
Deviated uvula if paralysed -: ‫ يفتح بقه ويقول آه‬
hoars voice if paralysed -: ‫ يتكلم‬

XI. ACCESSORY:-
‫ أحط ايدي على دقنه وأقوهلل زق ايدي‬
‫ في عكس اتجاه‬Sternomastoid ‫ أحس باإليد التانية ال‬
‫الزق‬
‫ ارفع كتافك‬

XII. HYPOGLOSSAL:-
‫ طلع لسانك‬
For wasting and weakness ‫ حركه يمين وشمال‬

In order to complete:-
- Full neurological examination
- Examine the patient's glasses
- Fundus examination
- Assess papillary response to light and accommodation
- Corneal reflex
- Taste sensation
 FACIAL NERVE PALSY
VII. FACIAL:-
 ‫ارفع حواجبك‬
 ‫اقفل عينيك جامد‬
 ‫ماتخلينيش افتحهم‬
 ‫وريني اسنانك‬
 ‫صفر أو انفخ‬
In order to complete:-
- Examine Taste sensation
- BP
- Ear examination
- Inspect skin for rash ( erythema migrans )
- Assess hearing
- Examine other cranial nerves
- Full neurological examination of the upper and lower limbs

AETIOLOGY OF FACIAL NERVE PALSY:

(a)LMNL:
. Bell’s ( the commonest)
. Ramsy hunt syndrome(HZV)
.Chronic serious OM
.intracranial tumors
. Viral infections, Lyme
. Congenital
.GB syndrome
. Trauma
(a)UMNL
. CP
. Tumors .Mobuis syndrome (strabismus and immobile face)
 EYE EXAMINATION
General observation:- Obvious squint, ptosis, Nystagmus, dysmorphism,
glasses, Any head tilt

Look at the eyes:-

 Conjunctiva
 Pupils ( any corneal opacities )
 Lids
 Check for nystagmus:- normally present in the extremes of gaze
visual acuity:-
 Check if the child can see :- count finger,hand movement, light perception.
 Test both eyes separately
 By the end of the exam I’d like to do a formal visual assessment.

Visual field test:- confrontation test

Eye movement:-
‫ اقوله خليك باصص ع‬،‫ أحط ايدي علي أورته علشان أثبت راسه‬، ‫ أخلي الواد يغمي عينه بإيده‬
‫ احرك القلم في كل االتجاهات ابتدي بالعرض و بعدين بالطول‬،‫القلم ولو شوفت القلم اتنين قوللي‬
.‫وبعدين أعمل العين التانية‬

Accommodation:-
‫ عاوزك تفضل باصص عليه‬،‫ أنا هاقرب القلم ده منك‬
Observe for convergent movement of the eyes and pupils constriction 

Light reflex:-
‫) و في‬direct( ‫ في نفس العين‬pupil constriction ‫ قدام عينه و أشوف ال‬torch ‫ احط ال‬
)consensual( ‫العين التانية‬

Squint examination:- example of Lt covergent squint

 Corneal reflection :- to know whether it’s paralytic or no
 o Using the torch from a central position>>
o Normally the light reflexion must be central on both corneas
o But in this case>>.the light reflex is laterally deviated in the left eye (
on the sclera).
o THEN>> ask the child to move his eyes from the right to the left while
you are fixing the light or if younger>> fix his eyes and you move the
light source
o IF>>> IF the distance between the two light sources on both corneas is
fixed===>>>non paralytic squint
o if the distance is increasing ( the left eye is not moving ++++>>>
paralytic).
o THEN SAY>>> I have concluded that there’s a left manifest (app.) non
paralytic ( or paralytic) squint.
o NOW I WOULD LIKE TO DO THE COVER-UNCOVER TEST
 Cover/uncover test :-
‫ سم و بعدين غطي العين السليمة و راقب الحولة شوفها‬03 ‫ خليه يبص علي حاجة علي بعد‬
‫هتتحرك وال أل‬
manifest squint ‫ لو اتحركت يبقي ده‬
)examiner ‫ م ( قول لل‬6 ‫م و‬0 ‫ ده مفروض يتعمل وهوا باصص علي بعد‬
 Alternate cover test:-
، ‫ سم و أغطي عين عين وأبص عليها أول ما بشيل الغطا‬03 ‫ أخليه يبص علي حاجة علي بعد‬
‫بتتحرك وال أل‬
latent squint ‫ لو بتتحرك يبقي ده‬
)examiner ‫ م ( قول لل‬6 ‫م و‬0 ‫ ده مفروض يتعمل وهوا باصص علي بعد‬

(E) COVER-UNCOVER TEST:

START BY>>>covering the apparently good eye (Rt)

POSSIBILITIES:

1) left eye fixates ( take a central position) then after uncovering the right
eye>>>left eye deviates again medially( returned back to its abnormal
position>>>SO THIS IS A LEFT NON PARALYTIC SQUINT
NOW>>>the right eye after uncovering (a) still in the center position or (b)
returned from an abnormal position>>>Right latent squint>>> so do alternative
cover and uncover test for the right eye to be confirmed

In order to complete:-
- Examine the patient's glasses
- Fundus examination
- Full neurological examination including cranial nerves

=-=-=-=-=--==-=-=-=-=-=-=-=-=-=-=-=-=-=--=--==-=-=-=-=-=-=--=-=-=-=--==-=-=-=-==

Khadiga is a nice 4 years old girl (with features of trisomy 21)

With left manifest non paralytic convergent squint.

N.B. If the child is wearing glasses>>>> take off the glasses while examining
VISUAL (acuity or field), then examine the glasses for myopia, hypermetropia or
stigmatism( against a straight line).

Non paralytic>> usually due to refractory error

Paralytic >> usually due to muscle problem.

Management:-
- Ophthalmologist
- Optometrist
- Orthoptist
- Brain imaging

==-=-=-=-=-=-=-=-=-=-=--=-=-==-=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-=

visual assessment by age:-

= 3 years  optokinetic Nystagmus(circular moving tissue)

= 3-4 years  matching V-Chart( letters)
= >5 years  snellen’s chart
 MSK UPPER Limb

 obvious deformity
General Observ  obvious dysmorphism
 Aids:- wheel chair, orthoses, crutches

‫ عندك وجع في عضالتك او مفاصلك؟‬

Screening Quest ‫ فيه اي مشكلة في طلوعك ونزولك السلم؟‬
‫ فيه اي مشكلة في انك تقلع او تلبس هدومك بنفسك؟‬

 Deformity
 Arachnodactyly ( marfan)
 Short 4th & 5th metacarpals (turner)
LOOK  Asymmetry
 Muscles
 Wasting in thenar or hypothenar
 Posture
 Claw hands( bracial plexus inj medial
cord)
 Flexed hand and arm ( hemiplegia)
 Wrist drop ( radial palsy)
 Ulnar deviation ( rheumatoid arthritis )
 Nails
 Clubbing
 Pitting, onycholysis ( psoriasis)
 Koilonychias ( iron deficiency anemia)
 Skin
 Eczema
 Psoriatic rash
 Gottrons papules ( dermatomyositis)
 Any other rash
 Stigmata
 Neurocutaneous stigmata
 Stigmata of bacterial endocarditis
 Scars
 Eg. Venepuncture marks
  Ask about pain in the hands
 Temperature and sweating
Feel
 Palpate any swelling to know if it's bony or soft
 Squeeze ametacarpal joints for tenderness

 ‫ افرد صوابعك‬make a star

 Make a fist
 ‫ اقلب ايدك‬supination
Move  Make a circle ( opposition)
 ‫عد صوابعك‬
 Ask for screening of other joins of the upper limb

 ‫ادي لنفسك حضن‬

 ‫شبك ايديك ورا ضهرك‬
 Ask the examiner to ask the patient
Function o ‫بيعرف يمسك المعلقة؟‬
o ‫بيعرف يمسك الكوباية؟‬
o ‫بيعرف يمسك القلم ويكتب؟‬
o ‫بيعرف يزرر ويفك الزراير؟‬

 PGALs screening of the other joins

 Eye examination
 Neurological examination
In order to complete
 Skin examination to look for rash
 Steroid toxicity signs
 Abdominal examination
 Lymphnodes
 To examine for side effects of medicatios
ABNORMAL RADIUS

 TAR
 FANCONI( microcephaly, micropthalmia, café au lait, renal problems,
blood problems)
 HOLT-ORAM VACTERL
 MSK LOWER Limb

 obvious deformity
General Observ  obvious dysmorphism
 Aids:- wheel chair, orthoses, crutches

‫ عندك وجع في عضالتك او مفاصلك؟‬

Screening Quest ‫ فيه اي مشكلة في طلوعك ونزولك السلم؟‬
‫ فيه اي مشكلة في انك تقلع او تلبس هدومك بنفسك؟‬
Expose lower limbs
 Deformity ( genu valgum, genu varus)
 Joint swelling
 Muscle wasting
 Leg length inequality
Stand  look for
 Flat feet + Hyper extended knees
 Rash ( for psoriasis)+ Bruises ( for hemophilia)
 Back ( kyphosis, scoliosis)

‫ميل لقدام والمس األرض بايديك‬  Look at the back for scoliosis + spine hyper laxity

Walk, Heel, tip toe  For gait abnormality

Lye on the bed  Deformity ( genu valgum, genu varus)

 Joint swelling + measure if it's there
Look  Muscle wasting
 Leg length inequality + measure if it's there
 Rash ( for psoriasis)

 Tenderness
Feel  Raised local temperature
 Effusion ( patellar tab + cross fluctuation)

 Active movement of knee  feel for crepitus

Move
 Passive movement of hip for limitation of movmnt

 PGALS screening of the other joins + eye + skin

 Abdomen for hepatosplenomegaly +
In order to complete  signs of steroid toxicity
If there is scoliosis:- = look for cutaneous stigmata
=Respiratory examination = Respiratory function tests
 Example of a case of arthritis
I examined Yasmine , she has an abnormal gait, no scoliosis, there is a swollen left knee
with flexion position. There limitation of joint movement with limited extension compared
to the rt knee. Also I believe that there is joint effusion. My impression is that she has a
chronic inflammatory arthritis ( DD infection, infiltration, trauma, tumor, bleeding>>
hemophilia in boys, JIA, STILL’S, SLE, HSP…>> COLLAGEN DISEASES)

1. I want to take a thorough history, genetic counselling

2. Investigations: CBC, inflammatory markers, CRP, ESR, ANA, other autoimmune Abs ,
coagulation profile, factor 8 & 9 assays and imaging in the form of x-ray, sonar and MRI.
3. MDT:
My consultant
RHEUMATOLOGIST
PHYSIOTHERAPY
OCC. THEURAPY
Orthopedics
GP
Pediatrician
Psychologist
School
N.B. medications used>>NSAID, STERIODS, METHOTREXATE, CYCLOSPORIN, SULFASALAZINE

CAUSES OF SCOLIOSIS:

1. IDIOPATHIC: increased during pregnancy

2. Neuromuscular weakness e.g. DMD
3. Spine or bone problems: Klipel feil, rickets, OI.
4. Syndromes: NF( café au lait spots), MPS.
 JOINT HYPERLAXITY

 obvious deformity
General observ  obvious dysmorphism ( BODY HABITUS eg. marfan)
 Aids:- wheel chair, orthoses, ctutches

‫ عندك وجع في عضالتك او مفاصلك؟‬

Screening QuesT ‫ فيه اي مشكلة في طلوعك ونزولك السلم؟‬
‫ فيه اي مشكلة في انك تقلع او تلبس هدومك بنفسك؟‬
Expose lower limbs

 Deformity ( genu valgum, genu varus)

 Flat feet
Stand  look for  Back ( kyphosis, scoliosis)
 Hyper extended knees

 Look at the back for scoliosis

Bend forward  Hyper laxity of the spine

Walk, Heel, tip toe  For gait abnormality

‫افرد دراعك‬  Hyper extensible elbow

‫اقعد استريح‬  Long fingers : Arachnodactyly

 ‫خليه يلف صوابعه حوالين الرست‬
 Sternberg's sign
 ‫صباعه الصغير لورا‬
Hand & Arm  ‫صباعه الكبير لورا‬
 Pulse :- tachycardia in hyperthyroidism
 Water hammer puls
 Scars & bruises
  High arched palate
Head & Neck  Dental crowding

 Deformity ( pectus )
Chest  Scars
 Heart auscultation

 Take full history

 Examine parents
In order to complete  Measure arm span and sitting height
 Complete cardiac examination
 Ophthalmological examination
 THYROID
General observation:- As usual + obvious eye signs, obvious swelling ,any hearing aids
(pendred syndrome), any voice hoarseness ( especially if there is a scar)

Examination:-
Inspection :- ( front with neck extension)

 Neck swelling: - Site, Shape (uniform, unilateral?) , Scar? , Size

 Swallowing: - does it move with deglutition?

 Stick your tongue out: - ( if it rises during the manoeuvre  it’s a thyroglossal cyst )
 Look at the base of the tongue for high thyroglossal cyst

Palpation:- ( from back, reassure the pt, ask her to tell if there is pain )

 Neck swelling:- Shape (uniform, unilateral?) , Surface, consistency

 Swallowing: - does it move with deglutition?

 Palpate for neck lymph nodes

Percussion:-

 Percuss the sternum for retro-sternal extension

Auscultation:-

 Auscultate the mass for bruit

Then ask the examiner to assess the thyroid status

Hands:-

 Look for clubbing

 Hold out hands , look for tremors
 Feel for raised temperature
 Pulse :- rate and rhythm and volume
 I’d like to measure BP at the end of my examination
EYES:-

 Lid edema
 Lid retraction ( rim of sclera is seen above the iris)
 Exophthalmos ( examine from above ) & ( comment if asymmetrical)
 Lid lag
 Eye movement for External ophthalmoplegia

Dention:-

 Delayed in Hypothyroidism

Lower limbs:-

 Reflexes( knee jerk ):- slow relaxation in hypothyroidism

 Proximal myopathy in hyperthyroidism :- ( can’t get up from squatting position)

Questions to ask to help assess thyroid status :-

 Heat and cold tolerance / sweatiness

 Constipation/diarrhea
 Appetite and weight loss
 Muscle weakness
 Energy levels
 Schoolwork (usually well behaved if hypothyroid)

In order to complete my examination:-

 Pubertal staging
 BP
 Abdominal examination for hernia or constipation

Comment on positive signs and comment whether the pt is clinically hyper/hypo /euthyroid

Put In Your Mind Turner And Autoimmune In A Short Hypothyroid Girl

MANAGEMENT:-
1. Thorough history
2. Investigations>> TSH, T4, RBS, U/S neck
3. MDT:. My consultant .Endocrinologist . Opthalmologist . Dietitian
 .Psychologist .School . Immunologist ( autoimmune) . Genetic ( Turner)

Treatment of hyperthyroidism:
1. Medical>>carbimazole, propranolol or block therapy>> carbimazole and
thyroxine
2. Radioiodine
3. Surgery
4. Prednisolone for eye signs, N.B.>> eye signs usually persist

Treatment of hypothyroidism: L-Troxin

Complications of exopthalmus:
1. Exposure keratitis
2. Optic atrophy( due to compression)
3. Opthalmoplegia ( due to lymph. Infiltration).

. Hypothyroidism may be associated with Turner, autoimmune disease or

Down syndrome.
 TALL STATURE
GENERAL:- folan .. yrs old child who is sitting comfortable in bed, not in distress, pink in air,
there are no specific surroundings, he doesn't look acutely unwell, although he has an
ongoing medical problem he looks very tall , I'd like to plot his height and weight on
appropriate centile charts for age and sex, also I'd like to compare his sitting height and his
arm span versus his height …. I'd like to check his parent's height as well to know his
midparental height centile , to know if he is tall for family size.

Measurements :- + Standing height + setting height + Arm span + Head

circumference +wt

Examination :-

Spine:- ‫ خليه يقلع البنطلون إن أمكن‬، ‫بالمرة وهوا واقف وقالع الجزمة‬
Cases
 Café-au-lait spots
-Marfan
 Look from lateral for kyphosis -Homocystinuria
 Look from behind for scoliosis while standing -hyperthyroidism
 Bend forward for scoliosis -klinefilter
 ‫ المس األرض بايدك‬for hyperlaxity
 Knee for hyperlaxity
 Pes plannus
 ELBOW HYPERLAXITY ‫بالمرة وهوا واقف‬

Hand & Arm:- ‫خليه يقعد او ينام‬

 Long fingers : Arachnodactyly

 ‫خليه يلف صوابعه حوالين الرست‬
 Sternberg's sign
 ‫صباعه الصغير لورا‬
 ‫صباعه الكبير لورا‬
 Pulse :- tachycardia in hyperthyroidism
 Water hammer pulse
 Elbow hyperextension

Head & Neck:-

 High arched palate, Dental crowding

 Eye signs of hyperthyroidism :- exophthalmos, lid signs  hyperthyroidism
 Goiter, inspect and palpate  hyperthyroidism
Chest:-

 Pectus excavatum or carinatum

 Scars
 Café-au-lait spots
 Gynecomastia in boys ( klinefilter )
 Cardiac auscultation

In order to complete:-

 Examine parents ( autosomal dominant inheritance )

 Need to plot parental height/ MPC
 Cardiovascular examination including BP  marfan
 Fundoscopy  marfan
 Development and fundoscopy homocystinuria
 Reflexes & thyroid examination  Hyperthyroidism
 Examine genitalia and pubertal staging  Klinefilter

MANAGEMENT INVESTIGATIONS

 Paediatrician  Bone age

 Ophthalmologist  Ophthalmic examination
 Cardiologist, for yearly ECHO  ECHO cardiography yearly
 Orthopedic surgeon ( scoliosis )  Karyotype
 Psychiatrist  Thyroid function test
 SHORT STATURE

SHORT STATURE

Non dysmorphic Dysmorphic

Well/ normal wt or
ILL /Under wt over wt
Proportionate Disproportionate

chronic disease growth turner, noonan,

eg. celiac, cystic hormone def, mucopolysacha
Achondroplasia
fibr, IBD, CRF hypothyroid ridosis, russell
IDDM or cushingoid silver

GENERAL RULES:
1. Female in a short stature station >> you should exclude Turner
2. In any short stature station you have to examine the thyroid gland( hypothyroidism
could be associated with Turner or alone).
3. Pubertal assessment is crucial
4. Rickets could be the case

GENERAL observation:- folan .. yrs old child who is sitting comfortable in bed, not in
distress, pink in air, there are no specific surroundings, he doesn't look acutely unwell,
although he has an ongoing medical problem he looks SMALL , I'd like to plot his growth
parameters on appropriate centile charts for age and sex, also I'd like to compare his sitting
height and his arm span versus his height …. I'd like to check his parent's height as well to
know his midparental height centile , to know if he is short for family size.
Measurements :- + Standing height + setting height + Arm span + HC +weight
* Turner, Down and Achondroplasia have specific growth charts.
MANEUVERS:-

 ‫ افرد ايديك ورجليك قصاد بعض‬FOR ASYMMETRY or Hemihypertrophy  Russell

silver
 ‫افرد ايديك لقدام‬
o Nails: hypoplasia, hyperconvex  turner
o Small trident hand  Achondroplasia
o Short stuppy fingers ( mucopolysacharidosis )
o Scar of carpal tunnel synd. Operation ( mucopolysacharidosis )
o Clinodactyly  Down syndrome and russell silver
o Camptodactyly ( fixed flexion of fingers ) Russell Silver
o Simian crease  down syndrome
 Make a fist  short 4th & 5th metacarpals ( turner )
 Extend elbows  Carrying angle ( turner, noonan )
 Extend elbows  short limb , not reaching upper thigh  Achondroplasia
 Flex elbows  for rhisomelic shortening  Achondroplasia
 Proximal myopathy, thin skin  cushing syndrme

Back + LOWER LIMBS :- NB:- YOU HAVE TO EXPOSE LL TO EXCLUDE RICKETS

 exaggerated kyphosis, gibbus, scoliosis and rod surgery  ( mucopolysacharidosis)

 Scars of corrected deformity eg. Cervical stabilization surgery In Maroteaux-Lammy
and Morquio
 Gibbus in infancy , lumbar lordosis and scoliosis in adolescence achondroplasia

EXAMINATION:-

Head & Neck :-

TURNER NOONAN MUCOPOLYSACHARIDOSIS

 Dysmorphic features  Dysmorphic features (  Coarse facial features ( thickened

 High arched palate
 Neck webbing
 Low posterior hair line
 Goiter
hypertelorism, lips, frontal possing, large head,
flat mid face, prognathism )
antimongoloid slant, ptosis,
 Corneal clouding
epicanthic fold, low set ears
 Nasal discharge
, short wbbed neck )
 Upper air way obstruction

Russell silver

 Dysmorphic features ( small triangular face, frontal possing, micrognathia, normal head
circumference, prominent nasal bridge, downturned corners of mouth, late closure of AF)
 Blue sclera
 Sprengles neck deformity
 cushing ACHONDROPLASIA

 Moon face  Dysmorphic features :- ( frontal

possing, large head, )
 Buffalo hump
 Teeth malocclusion
 Evidence of adrenal virilism( acne,
axillary hair, pubic hair)

Chest:-

 Shield shaped chest , widely spaced nipples ( turner, noonan )

 Pectus in noonan
 Absent breast tissue  ( in turner postpubertal female )
 Scars  ( turner, noonan )
 Heart auscultation ( noonan, turner, mucopolysacharidosis_congestive hrt failure )
( pulmonary HTN in achondroplasia due to recurrent OSA )

Abdomen:-

 Scars ( kidney operations ) turner

 Masses ( renal in turner )
 Scars ( adrenal syrgery) cushing
 Striae ( cushing )
 Hernia ( mucopolysacharidosis , hypothyroidism )
 Organomegaly ( mucopolysacharidosis )

o Syndactyly of toes Russell Silver

TURNER

 SUMMARY:- Folana …… years old child , a case of ( PROPORTIONATE ) / ( DISPROPORTIONATE )

short stature ,she has …… Dysmorphic facial feature , short 4th & 5th metacarbals, wide carrying
angle, webbed neck , lt lateral thoracotomy scar mostly of repaired coarctation of aorta, shield
shaped chest , absent breast tissue , so my differential diagnosis will be a syndromic cause of short
stature , most probably Turner syndrome, IN ORDER TO COMPLETE MY EXAMINATION I'd like to
check tanner staging of puberty, ear examination , full cardiovascular examination including
peripheral pulses and 4 limb BP , full abdominal examination, I'd like to examine her thyroid status,
plot her WT & HT on specific turner charts
 INVX:- Karyotyping 45XO
 Management:- paediatrician , endocrinologist, Gynecologist, cardiologist, geneticist, psychiatrist, ENT
surgeon,
In order Nephrologist , urologist, social worker.
to complete:-
 TURNER
 Plot height, wt ,head circumference on special chart
 Full cardiovascular examination including peripheral pulses and 4 limb BP
 Ear examination & formal hearing test ( chronic serous otitis media in turner)
 Abdomen examination:- for renal anomalies
 Thyroid status
 Management:-
o Screen for associated autoimmune diseases like:- autoimmune thyroiditis
and inflammatory bowel disease
o Screening for congenital anomalies ( renal&cardiac)
o Oestrogen/progesterone replacement therapy
o Growth hormone replacement therapy ( follow up to monitor growth &
side effects)
o MDT:- paediatrician, endocrinologist, Gyneacologist, cardiologist,
psychiatrist, community doctor

NOONAN
 Full cardiovascular examination ( PVS, branch PAS, ASD, hypertrophic
cardiomyopathy)
 Abdominal examination for hernias
 Genitalia examination in Noonan for cryptorchidism
 Examine parents( autosomal dominant)
 Coagulation profile( coagulation abnormalities in 30% eg:- Von Willebrand,
thrombocytopenia, clotting factors abnormalities)

ACHONDROPLASIA

 Spirometry  achonroplasia bcz all pts have reduced lung capacity

 CVS examination for evidence of pulmonary HTN 2ndry to recurrent sleep apneas
 Ears examination for chronic serous otitis media
 Teeth examination for dental malocclusion
 MSK examination for hyperlaxity in achondroplasia
 Plot HC, HT & WT on special achondroplasia charts ( hydrocephalus )
 EXAMINE PARENTS ( autosomal dominant)
 X-ray:- for decreasing interpeduncular distances in lumbar spine. ( distinguishes it
from Hypochondrodysplasia)
 MUCOPOLYSACHARIDOSIS

 Fundus examination for cherry red spots (present in GM1,which is a differential)

 CVS examination for evidence of congestive heart failure
 MSK examination for joint stiffness and contarctures
 Developmental examination ( delayed )

Russell silver

 Genitalia examination (hypospadias/ undescended testis)

 Check height velocity growth chart (borne small for gestational age, little or no catch-
up growth)
 Cardiac and renal screening for anomalies
 Screening for tumours eg:- wilm’s
 X-ray looking for the characteristic changes:-
 ‘ivory’ epiphyses of the distal phalanges.
 Small middle phalanx of little finger.
 Pseudoepiphysis at the base of the second metacarpal.
 Management:-
 Geneticist
 Endocrinologist
 Community paediatrician
 Occupational therapist
 Dietitian
 Physiotherapist
 Orthopaedic surgeon ( for marked limb asymmetry )

CUSHING SYNDROME

 Pubertal staging
 Bone age
 Fundus examination ( for pituitary tumour causing optic nerve pressure)
 Visual field examination ( For process affecting optic chiasma)
 BP
 BMI
 Suggest full systems examination if systemic disease requiring exogenous steroids is
suspected
 RICKETS
Can come as general examination or as short stature station

General observation:- as usual + large head, obvious deformity + short stature

Measurements:- pt is significantly short with apparently large head , I’d like to plot his
growth parameters ( height , weight & HC ) on the appropriate growth curves for sex and
age .

Maneuvers ( upper limb examination ):- as in short stature :- you will find obvious
limb deformities:- NB:-expose the UL fully.

 Broadening of wrist and elbow joints

 Obvious limb deformities

Examination:- from the above mentioned signs I suspect Rickets and I want to search for
other rickets signs

BACK & LL :-

 Kyphosis or scoliosis
 Bow legs or Knock knees ( genu varum, genu valgus )
 Pes plannus
 Broadening of the ankle
 Marfan sign ( double maleoli sign due to metaphyseal hyperplasia ) ( ‫) لما يقعد ع السرير‬

Head & Neck:-

 Frontal bossing ( apparently large head)

 Wide anterior fontanel / delayed closure of the fontanel and sutures
 Delayed teething / abnormal teeth
 Alopecia ( in Vit D dependent rickets )
 Depressed nose

Chest:-

 Rosary beads
 Hrrison’s sulci
 pigeon shaped chest ( pectus carinatum )
Abdomen:-

 divarication of the recti

 ptosed liver
 abdominal wall hypotonia
 hernias

MANAGEMENT:-

1. I would like firstly to take a thorough history especially nutritional history & family H.
2. Investigations will include :- bone profile in the form of Ca, Ph, ALP, x-ray left wrist>>
widening epipheseal plates, cupping and fraying together with increased joint space.
3. Finally I would like to involve a MDT:
 Dietician, My consultant, Orthopedic( in severe cases), Health visitor, Radiologist(
green sticks are common), Endocrinologist

NOTES ON RICKETS:

Types:-

 Vitamin D-related rickets

 Vitamin D deficiency
 Nutritional( the commonest cause) poor sun exposure, poor feeding.
 GIT loss:- celiac, cystic fibrosis, statorrhea( poor absorbtion)
 Vitamin D-dependent rickets
 Type 1 (vit D3 1-alpha-hydroxylase deficiency) active vit D deficiency
 Type 2 (calcitriol receptor mutation) receptor problem
 Hypocalcemia-related rickets
 Hypocalcemia
 Chronic renal failure  renalosteodystrophy ( dec Ca, incr PTH  Bone degradation
 Hypophosphatemia-related rickets
 Congenital
 Vitamin D-resistant rickets (X- linked hypophosphatemic rickets)  decreased Ph
reabsorbtion + decreased vit D synthesis, so TTT  oral Ph + Calcitriol
 Autosomal dominant hypophosphatemic rickets(ADHR)
 Autosomal recessive hypophosphatemic rickets (ARHR)
 Secondary Hypophosphatemia (typically secondary to malabsorption)
 Fanconi's syndrome  ph loss fromthe proximal tubules
 OBESITY nnn
OBESITY

TALL SHORT

MOSTLY + Cushingoid
PHYSIOLOGICAL + Hypothyroidism
+ Laurence moon Beidel
+ Pradder willi
+ Down syndrome

GENERAL:- folan .. yrs old child who is sitting comfortable in bed, not in
distress, pink in air, there are no specific surroundings, he doesn't look acutely
unwell, although he has an ongoing medical problem he looks OBESE , I'd like to
plot his height and weight on appropriate centile charts for age and sex, also I'd
like plot his BMI

Measurements :- + height +weight +BMI

Examination :-
Hand & Arm:-

 Scar in the hand of polydactyly removal ( Lawrence moon Beidel )

 Muscle wasting, thin skin ( cushingoid )

Head & Neck :-

 Moon face
 Buffalo humb
 Goiter
 Facial hair

Chest:-

 Truncal obesity
  Gynecomastia
 Heart auscultation for loud S2 from PHT from OSA

Abdomen:-

 Striae
 Scars ( adrenal surgery , GIT disease requiring steroids )
 Palpate for masses or organomegaly

In order to complete:-
 Examine genitalia and pubic and axillary hair to assess puberty(delayed
in hypothyroidism)and if there is adrenal virilism ( in steroid ttt )
 BP
 Bone age
 Fundoscopy and visual field examination ( pituitary tumours )
 If there is suspicion of PHT due to OSA  refer to ENT, sleep study.
 Neurofibromatosis
General observation:- Large Head, , neurofibromas, café au lait,
 I suspect neurofibromatosisi and I'd like to examine for other signs of
neurofibromatosis.

Examination:-
Common :-
= Neurofibromata :- painfull or not?? button hole sign? size and shape,
attached to the underlying skin??
= Café au lait spots :- colour, average number, border, the size of the
largest one.

Upper limb:-

 Axillary freckling

Head:-

 Large head
 Eyes :- Lisch nodules

Trunk:-

 Café au lait spots :- colour, average number, border, the size of the largest.

Lower Limbs:-

 Deformity :- bowing
 Gait
 Asymmetry

Back:-

 Kyphosis
 Scoliosis

In Order to complete:-
  BP ( pheochromocytoma)
 Femoral pulsations ( coarctatation)
 Abdominal examination
 Growth parameters
 Ophthalmological examination (visual field & slit lamb for lisch nodules )
 Inguinal freckling
 Family History
 Examine parents for autosomal dominant inheritance

Management:-
1. History , genetic counseling and pedigree….
2. Investiagations as CBC, ECHO, CT brain, SLIT LAMP, FUNDUS, RENAL
DOPPLER(RAS), TUMOR MARKERS(PHEOCH.), GH level….
3. MDT:
 Genetic
 Endocrine (ass. GH def.)
 My consultant
 Orthopedic
 General pediatrician
 Community ped.
 Psychologist
 Ophthalmologist
 Cardiologist
 Physiotherapist
 Occ.therapist
 School

N.B. causes of hypertention in NF1:

 Pheochromocytoma
 RAS
 Coarctation
 Noradrenaline coming from the neurofibromas
 Tuberous Sclerosis
General observation:- as usual+ obvious warty lesions (adenoma sebaceum),
learning disability

Examination:-
Hand :-

 Periangual fibroma
 Cafe au lait spots
 BP by the end of the exam :- renal Causes of HTN

Head/Neck:-

 Adenoma sebaceum
 Enamel hypoplasia

Chest:-

 Cafe au lait spots

 Ash leaf maccules
 Cardiac auscultation for rhabdomyoma

Abdomen:-

 Any scars  renal operations

 Any masses  renal angiomas, polycystic kidneys

Back:-

 Shagreen patches
 Kyphosis/Scoliosis  present inneurofibromatosis

In order to complete:-
 Examine skin by wood’s light for ash leaf maccules
 Full eye examination including fundoscopy for choroidal hamartomas and
Retinal Phakomas = Rectal examination for polyps
 Osteogenesis imperfecta
General observation:- as usual + wheel chair( usually wheel chair bound), multiple bony
deformities( multi fracture deformities) in upper and lower limbs, short bowed arms and
legs.

Examination:-

Upper limb:-
 Deformities
 Thin skin
 Short limbs
 Bruises
 Scars

Head and Neck:-

 Blue sclera
 Soft scull
 Sutures and fontanels
 Triangular face
 Soft discoloured brittle teeth
 At the end of my examination i want to examine hearing bcz high possibility of
hearing loss due to otosclerosis

Chest:-
 Barrel shaped chest

Lower limbs:-
 Deformities
 Thin skin
 Short limbs
 Bruises
 Scars

Back:- offer to examine the back for deformities tell your positive findings and conclude>>
I believe this is a case of skeletal dysplasia mostly a case of OI.
MANAGEMENT:-

1. Thorough history, genetic counseling and examining parents.

2. Investigations in the form of :-
.RADIOLOGY: skeletal survey, DEXA scan( bony density),X-ray skull( wormian
bone) and fracture limbs
.SERUM: Ca, Ph, ALP( normal or increased), acid phosphatase,
.Urine:>> ( increased 24 hrs Hydroxyproline>> collagen product)
3. MDT:
 My consultant
 Orthopedic surgeon
 Radiologist
 Physiotherapist
 Occupational therapist.
 ENT
 Community paediatrician.
 Physiologist
 Endocrinologist
 Dietician
 School

And we have to consider some medications>> biphosphonate ( increase bone

density) and growth hormone.

NOTES ON OI:

GROUP OF DISORDERS OF FRAGILE BONES DUE TO DEFECTIVE OR DECREASED

TYPE 1 COLLAGEN.

TYPE 1 is the commonest and mildest(AD)

TYPE 2 IS THE most severe (NEW)

TYPE 3 is the second most severe and characterized by hearing loss(NEW)

TYPE 4 is the second mildness(AD) The mode of transmission AD, AR or new

mutation.
 Macrocephaly
General observation:- as usual + large head, comment on conscious level,
hearing, speech, any obvious squint or sunset appearance, plot HC on centile
chart
Examination:-

HEAD:-
 Shape
 Fontanels
 Dilated veins
 Sunset appearance / squint / nystagmus
 Any shunt
 Auscultation for bruit

Abdomen:-

 Scars
 Shunt
 HSM ( MPS )

In order to complete :-

 Full neurological examination including the cranial nerves, vision, fundus

 Full developmental assessment including hearing and speech
DD:.
 Familial
 Achondroplasia
 Soto
 Canavan
 Alexandar
 MPS
 Hydrocephalus
 Thalassemia(thick scull)
 Skin rash on Lower limbs ( ITP )
ANY SKIN LESION YOU HAVE TO EXAMINE:

1. SKIN
2. LNs
3. ORGANOMEGALLY
4. MUCUS MEMBRANE
5. JOINTS

Go directly to the rash>>> size, colour, raised above the surface??, tender, scars,
oedema ++ extension if the rash

THEN>> hands as usual and go up

THEN >>> LNs

THEN>> mucus membrane>> gum bleeding, tongue

THEN>> abdomen HSM

THEN>> scrotal examination for oedema

THEN>> JOINTS

DD:

 Bleeding disorder
 Inflammatory ( DIC, meningitis)
 Malignancy ( leukemia)
 Collagen
INVESTIGATIONS:
 CBC, blood film (leukemia) , PT, PTT
 Autoimmune screen ( collagen diseases)
 Inflammatory markers
 Viral serology, Monospot test
 Ultrasound abdomen
 Occult stool and urine(HSP)
DEVELOPMENT
 GROSS MOTOR
WALK:- ‫امشي‬
- Forward 1
- Backward 1.5
- Side 3
- Tip toe walking 3
- Forward Tandem 4
- Backward Tandem 5

RUN:- ‫اجري‬
- Runs stiffly 2
- Runs smoothly (fast) 3
- Tip toe running 4

JUMP:- ‫نط‬
- Jumps (in place)  2
- Hops 4
- Skips5
STAND:- ‫اقف‬
- Tip toe standing2
- Stands on one foot for 1 sec 3
- Stands on one foot for 3 – 5 sec  4
- Stands on one foot for > 5 sec 5
B) Give him a Ball:
- Kicks a ball (standing)  2
- Kicks a ball (running)  4
- Throws a ball 2
- Catches a ball:
Front out stretched arm 3
Up out stretched arm4
Near to the body (front of the chest) 5
- Bounces and catches a ball 5
C) Ask him to climb stairs:
- Up with assistance 1.5
- UP in child manner 2
- Up in adult manner 3
- Down in child manner 3
- Down in adult manner 4
D) Ask him to ride a tricycle:
- Rides Tricycle 3

==--=--=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-=--=-=-=
 FINE MOTOR
Cubes Crayon Scissor Beads Board Book
Clean the table, use the MUM

General observation:-
- Glasses , Hearing Aids, Walking Aids
- Vision, Hearing, Obvious squint, Nystagmus, Dysmorphic
features
- Speech , stranger anxiety
Cubes:-
- TOWER:-
 3 cubes  1.5 y
 6 cubes (age in years × 3) 2y
 9 cubes (age in years × 3) 3y
 12 cubes (age in years × 3) 4y
- Bridge:-  3 y
- Train :-  3y
- Stairs :-
 6 cubes  4y

10 cubes  5y
Crayon :- scribbling  1.5

 ‫تعرف ترسم ماما ؟‬

3y (Draw a man with 3 parts) 4y (Draw a man with 4 parts) 5y (Draw a man with 6 parts)

Scissors:- cut  3 y
Beads:-
 Large  3 y
 Small  4 y
Board:-
  2 shapes  2y
 3 shapes  3y
 6 shapes  4y
Book:-
 Turn many pages  1 y
 Turn one page  2 y
====================================================
If suspected less than 2 yrs :-

 Fix and follow

 Palmer grasp

 Transfer from hand to hand 6M

 Mouthing

 Pointing by index
 Banging 9 – 12 M
 Crude pincer grasp
 Book  turn many pages

 Fine pincer grasp

 Tower of three cubes 18 M
 Scribbling with crayon
 Book  turn many pages
Summary:
Folan is 4 yrs old child , well child , he was cooperative today, he
showed that he could do :- …….. but he couldn't demonstrate doing:-
………… , so my impression that his fine motor age is … yrs
In order to complete my examination:- I'd like to assess other areas of
development to know whether it's isolated or global developmental
delay, and I'd like to send him to Child Development Center for
detailed developmental assessment.

====================================================

Hearing & speech

Please assess child's language, Hearing, Speech
‫سنة‬1 ------ ‫اقف وراه وانده عليه‬ .1
name ‫ سنة‬2 ---------------- ‫اسمك ايه ؟‬ .2
full name ‫ سنين‬3 ------------------ ‫اسم بابا ايه ؟‬ .3
Age ‫ سنين‬3 ------------ ‫عندك كام سنة ؟‬ .4
Sex ‫ سنين‬3 ---------- ‫انت ولد وال بنت ؟‬ .5
Adress ‫ سنين‬4 ---------------- ‫ساكن فين ؟‬ .6
‫ سنين‬5 --------- ‫تاريخ ميالدك ايه؟‬ .7
=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-
Body parts:-
 Show 2 parts of the body  1.5 y
 6 parts 2.5 – 3 y
Color matching:-
 Colors matching, 2 colors  3y
 Colors matching, 3 colors  4y
 Colors matching, 4 colors  4-4.5y
=--=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-
Counting :- ‫باستخدام العداد أو صوابع ايديه‬
 Count to 3  2.5-3 Y
 Count to 5  3.5
 Count to 10  4 Y

-=--=-==-=-=-=-=-=-=--=-=-=-=-=-=-=
 Obey simple commands( close the door ) ‫ ادي الكتاب ل ماما‬ 1.5 y
 Obey double commands ‫ خد الكورة اديها ل ماما‬ 2y
 Obey triple commands  3y
 Preposition :-  3y

==-=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-
 Put words together? ask permission to ask the mother
- 2-6 words 1y
- 10-15 1.5 y
- ~ 50 2y ,, two words sentence 2 y
- Three words sentence 3 y

Recognition and selection of objects:-

Recognition and selection of ptictures:-
Firstly, i will ask the child what is this?:-
- Recognize 2 objects 
- Recognize 4 objects 
- Select 2 objects 
- Select 4 objects 
Summary:-
Folan …. Yrs old , he is doing well and cooperative child , on examination he
could tell …. But he couldn't tell….. so my impression his hearing and speech
age is ….

In order to complete my examination (If the assessed age is below 6 months 

I'd like to do Hearing distraction test, if Below 1.5 years  Speech
discrimination test)

- And I'd like to do formal hearing test

- And I'd like to assess other areas of development to know whether it's
isolated or global developmental delay.

Management :-
- Hearing aids
- Special needs school
- Speech therapist

-===================================================
 SOCIAL
Assess this child's play, or social development.
General observation:- responding ? , eye contact ?
A) Feeding (by examination):
- Drinks from cup: 1 year.
- Uses spoon: 1.5 year.
- Uses spoon and fork: 2.5 years.
- Uses spoon, fork and knife: 4 years.

B) Dressing ( by examination):
- Helps in dressing ( eg arms into coat): 1- 1.5 years

- Takes off shoes and socks: 1.5-2 years

- Able to undress: 3 years

- button / unbutton: 3

- Dress with supervision: 3.5 years

- Completely dress without supervision: 5 years

C) Care (by history only):

- Indicates toilet need: 1.5 year
- Dry by day: 2.5-3 years
- Uses toilet alone/ wash and dry hands: 3 years
- Brushes teeth: 4 years
- Mostly dry by night: 5 years
D) Play (by examination):
- Waves bye bye, peek-a-boo: 1 year
- Symbolic play e.g. feed a doll: 1.5 year
- imitates adults’ activities e.g. mobile talking: 2 years
- Play alone: 2-2.5 Years
- Imaginative play: 3 years
- Share toys: 4 years
- understands taking turns: 4Y
- Make believe play (you are mum and I am dad): 4-5 years

-=-=-=--==-=-==-=-=-=-=-=-=-=-=-==-=-=-=-=-=-=-==
Key INVX for unexplained developmental delay:-
= chromosomes
= fragile X
= Thyroid function tests
= Creatinine phosphokinase( CPK )
= Metabolic screen
= X-Rays ( hips/spine)
= Neuroimaging

-=-=-=--=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-=-
Key professionals involved in child assessment:-
= Paediatrician
= Physiotherapist
= Occupational Therapist

= Speech and language therapist

= Educational psychologist ( if a child is likely to have special educational needs
or benefit from specialized school or nursery placemet)
= Audiologist
= Ophthalmologist/Orthptist
= Neurologist
= Geneticist
= Gp
=Health Visitor
= Nursery/School Teacher
 AUTISM
 CAN BE DOWN SYNDROME
 do not disturb the child if not responding to your
entrance and to your questions,( consider hearing
problem)
 After that say>> I feel that Ahmed is not responding to
me, no eye contact, can I ask the mother some
questions?
 Hearing??
 Is he speaking with you?
 Likes circular motions?
 If he wants anything?>>pointing or screaming?
 Routines and repetitive behaviors?
 Happy with a gift or indifferent?
 Friends?
 Plays with others?
 Eating habits?
 Dislike crowded places?
 Dislike noises?
 Hates cutting hair or baths?
 How is he playing
History Taking
 TOPIC

1. Personal information Hello, good morning, i belief that you are ... mother of ... Am i true ? yes
, I’m dr ... one of the paediatricians looking after ..., how are you today?
2. Introduction, clarify aims 
How was your journey to the hospital? .... i know that you are worried
3. Present History:-
about .... and i’m here today to discuss with you folan’s condition, are
ACUTE:-
you comfortable to discuss this now? ,, yes ,, excuse me i’ll write some
notes ,, what is your main complain? .. could you plz describe this .. for
 What is your main complain?
me ?
 Would you please describe this ......... for me ? ( onset, course, duration, triggering, relief)

**** RELATED SYMPTOMS ****

4. Other Systems Review:-

 Chest :- recurrent cough, SOB, noisy sounds, change in colour.(interrupted feeds, sweating during feeds)
 CVS: - exercise tolerance (interrupted feeds), sudden collapse, fainting attacks, change in colour.
 Abdomen :-
 GIT:- change of appetite, Nausea, vomiting, Reflux symptoms, Tummy pain, change in bowel habits (
diarrhoea, constipation), Blood in stool.
 Liver :- yellowish discolouration of the eyes and skin, stool colour, bleeding
 Spleen :- coughing of blood,  DD
 Kidney :- urine (stream, amount, colour) Dysurea,
 CNS:- headache, change in behaviour, abnormal movements
 MSK:- restricted movement, Joint pain.
 Skin:- rash, nodules, hyper or hypo pigmentation.
5. Past History:-
 Chronic Disease:- When have you been diagnosed with..... For the first time? How was the first
presentation? Have you ever been free of symptomps?
 Hospitalisation:- how many hospital admissions per year? – did he require ICU admission?
 Invx:- have you done any tests before ? ( Blood, urine, stool, sputum, respiratory functions, HbA1c )
 Medication :- dose, side effects, compliance.
 FU:- do you have regular FU? where do you FU? Who is your consultant?
 Complications:- of this chronic disease
 Associations:- with this chronic disease
6. Perinatal History:- is there anything you’d like to tell me about his birth history?
7. Growth, Development & Puberty :-
o Growth :- (dietary history) do you have his growth charts ? Following which centile? Wt gain? Wt loss?
o Development:- if a case with neurodisability or MSK you should discuss develop. In details :- - gross
motor - fine motor -hearing & speech – social development
o Puberty :- ( if child within puberty age) many children at the age of your child start to develop 2ndry sex
characters like: -..... Did your child show this?
8. Vaccination & Allergy:-
9. Family History: - + How many siblings he has? +Does anyone of them has the same problem? +Are they all
healthy? +Are you and your husband relatives? +Any one of the family members has the same problem?
10. Social History: - + Who help in care?
Home School
Family Friends + EM: - do you know how to manage his emergencies like ..... ?
+ Social groups: - are you participating in any social groups?
DLA
FINISHING:- what is your biggest worry? Are you concerned about any diagnosis in particular?
Is there anything else that you would like to ask/tell me? Is there anything u haven't understood?
Problem list:-
Summary: - Ahmed 12 years old child known case of ......, diagnosed when he was.... years old, coming complaining
of a main complain of ....., and many other minor complains..... (Problem list)
 Task Cystic Fibrosis – respiratory deterioration

DD
1.Introduction
2.Personal, cl
3.Present H
Related
Fever malaise wheezes
symptoms
 Chest:- recurrent cough, SOB, noisy sounds, change in
color.(interrupted feeds, sweating during feeds)
 Cardio:-
 Abdomen:- change in bowel habits ( diarrhoea,
4.Other
constipation)
systems
 Neuro:-
 MSK:-
 Skin:-
 Others:-
 Chronic dis:-
 Hospitalisation:-
 Investigations:- lung function tests, sputum samples,
cough swaps
5.Past H  Medications:- types, any deficient medications, compliance
 FU:- other health professionals involved like
physiotherapist or dietician
 Complications:-
 Associations:-
6.Perinatal H Meconium ileus,

7.V A Vaccines:- especially pneumococcus

8.G D P Growth:- gaining wt?

9.Family H

10.Social H
 Task 4 years old boy brought with H/O limping ,left leg .
 JIA
 Trauma
 Septic arthritis
 Hemophilia
 Growing pain
 Leukemia
DD
 Reactive arthritis
 HSP
 SCD with VOC
 SLE
 KAWASAKI
 RHEUMATIC
Introduction
Personal, cl
 Which limb, onset , course , duration, triggering ,
worsening, relieving, location, severity ( awaking from
sleep )
Present H  How many joints, any redness, swelling, limitation of
movement?
 H/O trauma

Related  Fever , rash , wt loss

symptoms
 Any recent URTI ( RF, Reactive arthritis ), FEVER?
 Cardiac symptoms: exercise tolerance?
Other  Abd: pain for HSP,
systems  Neuro:- eye pain, redness, decreased vision acuity
 Skin :- rash, ecchymosis,
 Bleeding tendency
Past H  Any H/O chronic disease:- SC, SLE, HSP, Hemophilia

Perinatal H

VA
 GDP

Family H

Social H
 Task Asthma exacerbation
 Infective
 Poor compliance
DD
 Needs escalation of medications
 Other allergens
Introduction
Personal, cl
Triggering / worsening:- Infection, parental smoking, pets, hay fever, house
Present H dust mites, recent house move

Related
 Fever , URTI symptoms
symptoms
 Chest:- recurrent cough, SOB, EXCERCISE TOLERANCE
 Cardio:-
 Abdomen:-
Other
 Neuro:-
systems
 MSK:-
 Skin:- allergies , eczema
 Others:- food allergy, rhinitis.
 Chronic disease:- in details:-
 Hospitalization:- level of ttt: IV mg sulphate, HD
dmission?
 INVX:peak flow rate, any diary kept? Respiratory
function test, skin prick test
Past H  Medication:- level of prophylactic medications,
compliance, how is it taken, does he use spacer? Any
side effects?
 FU:-
 Complications:-
 Associations:-
Perinatal H
VA
GDP
Family H
 Details of housing , type of flooring , furnishing , pets
Social H  Other houses they go to eg grandmother which may be smoky
 12 yrs old girl K/C/O JIA, performed many operations ,
Task
presented with H/O refusal to attend school
Reasons for not going to school:-
 Physically:-
o She needs help with toileting & dressing at
school
o Problem with transport to & from school
DD
 Emotionally:-
o Bullying
o No friends
o Low self esteem
o She struggles due to the work that is missed
Introduction
Personal, cl
Complain is refusing to go to school , so detailed social
Present H
history is needed, if there is pain : analyze as required,
Related
symptoms
Other
systems
Past H

Perinatal H

VA

GDP

Family H
 Ability to :-
o use toilet alone in home morning
o comb her hair
o Dress
Social H o Go down and upstairs
o Transport to school
o Go down and upstairs in school
o Write in good font?
  Missed school days and its effect on her achivement
 Bullying
 Low self esteem?
 Toilet in school? Dressing in school?
 The child
 Parents
 GP
 School nurse
Who should
 Head teacher
be involved
 Occupational therapist
in care
 Physiotherapist
 Psychiatrist
 Social services
 Community services
 Task EX preterm with persistent cough & wheezes
 Inhaled foreign body- inspiratory and expiratory chest X-ray
 Pertussis- pernasal swab
 True early asthma- reversibility of symptoms, atopy, FH
DD
 Cystic fibrosis – sweat test
 Congenital airway malformation – bronchoscopy
 GERD
1.Introduction
2.Personal, cl
3.Present H
Any days free?
Related
Cold? Fever ? poor feeding? Interrupted feeds? Change in
symptoms
color? Wt loss?
 Chest:- + H/O Foreign body inhalation ( sudden onset )
 Cardio:-
 Abdomen:- Feeding H, food allergy, H/O reflux, vomiting
4.Other
 Neuro:-
systems
 MSK:-
 Skin:- eczema
 Others:-
 Chronic dis:-
 Hospitalisation:- SCBU ADMISSION IN DETAILS
 Investigations:-
5.Past H  Medications:-
 FU:-
 Complications:-
 Associations:-
 Prenatal:- maternal health, smoking, fever, rash, DM, HTN,
antepartum hge )
 Natal:- Delivery, resuscitation.
6.Perinatal  Postnatal:-
H o Resp. Management in SCBU and number of days on O2
o SCBU problems:- PDA, IVH, ROP, NEC,TPN, kernicterus
o Total length of time in SCBU
o Home O2 required ?
 7.V A
Wt loss?
8.G D P
Developmental delay?:- developmental H in details
9.Family H asthma
10.Social H
 Task Child with reddish urine
 Nephritic syndrome  IgA / PSGN
 HSP
 Trauma
DD  Hepatitis A
 UTI
 Trauma
 PNH ( Paroxysmal nocturnal hemoglobinuria )
Introduction
Personal, cl

 Onset , course , duration

 Triggering:-
o Trauma
o Recent illness ( tonsillitis, streptococcal infection,
Present H
URTI, Fever, Joint pain )
 Related to exercise? Any blood clots in urine?

 Dysuria?
Related  Loin pain?
system  Fever?

 Chest:- URTI, cold, shortness of breath,

 Cvs:- buffy eyes? Eye color,
 Abdomen:- abdominal lumb, abdominal pain?
Vomiting, stool color
Other
 Neuro:- headache
systems
 Skin:- rash
 MSK:-joint pain, swelling
 Bleeding from other sites?
 Hearing ( Alport )
Past H  Travelling abroad
Perinatal H

VA  Hapatits A vaccine
GDP
Family H
Social H
 Task 04 recurrent abdominal pain
 Functional abdominal pain:-
o functional dyspepsia
o Irritable Bowel Syndrome
o Abdominal Migraine
DD
o Functional abdominal pain syndrome

 Organic abdominal pain:-

o Infilammatory Bowel Disease
1.Introduction
2.Personal, cl
Pain :- onset, course, duration , triggering , worsening, relief
3.Present H Pain :- Location, intensity, character, time of day or night, does
it awake her from sleep ?
Abdomen :-
 GIT:- change of appetite, Nausea, vomiting, Reflux symptoms,
Tummy pain, change in bowel habits ( diarrhoea,
constipation), Blood in stool.
Related  Liver :- yellowish discolouration of the eyes and skin, stool
symptoms
colour, bleeding
 Spleen :- coughing of blood,
 Kidney :- urine (stream, amount, colour) Dysurea,

 Chest:-
 Cardio:-
 Abdomen:-
4.Other
 Neuro:-
systems
 MSK:- joint pains?
 Skin:- rash ?
 Others:- fever, eye symptoms ?
5.Past H Any relevant previous H/O GIT problems
6.Perinatal H
7.V A

8.G D P Any WT loss ?

Any family H/O Migraine, Irritable Bowel Syndrome,
9.Family H
Inflammatory Bowel Disease
10.Social H
 Task 8 yrs old boy with Nocturnal Enuresis
 Primary
 Secondary

1. UTI
2. DM
3. DI
4. Neurological:- spinabifida
5. Constipation
6. Snoring during sleep? SOA
DD
7. Social:-
a. recent move to new house
b. new baby
c. social stressors:- conflicts between parents
d. bullying at school
e. ease of access to the toilet eg small light to the way
of toilet
f. dinner and drinks at late time? Any caffeinated
drinks by night?
Introduction
Personal, cl
 Duration?
 When last time was he dry?
Present H  Wet by night & day?
 How many nights per week?
 If secondary: any triggers?
Related  Urine symptoms:- amount, stream, color, any dysuria, any
symptoms loin pain, any fever recently
 Chest:- any recent infection
 Cardio:-
 Abdomen:- tummy pain? Constipation?
Other
 Neuro:- any weakness? Abnormal movements, headache,
systems
 MSK:-
 Skin:-
 Others:- snoring during sleep?
  Any chronic diseases:- eg:- DM , DI,
 Past H/O UTI?
Past H
 Did you sought any medical advice?
 Any medications tried?
Perinatal H

VA
 Any wt loss? :- DM
GDP
 Any delay in developmental milestones? :- spina bifida
 Any similar disease?
Family H
 Any FH of DM
 Social:-
a. recent move to new house
b. new baby
c. social stressors:- conflicts between parents
d. bullying at school
e. ease of access to the toilet eg small light to the way
of toilet
f. dinner and drinks at late time? Any caffeinated
Social H
drinks by night?
g. What do you do when he wets his bed? Any
blaming? Humiliation?
h. Who help in changing bed sheets?
i. Any sleep over?
j. Any problems with friends?
k. Impaction on family?

 Life style changes:-

a. Fluid restriction by evening
b. Avoid drinks containing caffeine bay evening
c. Double voiding before sleep
Management d. Keep night light between bedroom & toilet
e. Parents education
 Behavioral therapy: star chart
 Moisture alarm
 Drug therapy:
 a. DDAVP
b. Oxybutynin:- calms the bladder
 Treatment of the cause if present:-
a. Constipation
b. DM
c. DI
d. UTI
e. OSA
 Task Fever of unknown origin
Temperature > 38.2 on several occasions for more than 3 weeks.
 Infectious:-
o Bacterial:- TB, abscess, complicated UTI, endocarditis,
osteomyelitis, sinusitis, lyme disease, brucellosis,
typhoid, leptospirosis, Q fever.
o Viral:- CMV, IMN, HIV.
o Fungal:- Histoplasmosis.
o Parasitic:- Malaria, toxoplasmosis
 Malignancy:-
o Hematological:- lymphoma, leukemia.
o Non hematological:- renal cell cancer, hepatosellular
carcinoma, pancreatic cancer, colon cancer.
DD
 Autoimmune:-
o Still’s disease
o Rheumatoid arthritis
o Rheumatic fever
o IBD
o SLE
o Kawasaki
 Others:-
o Drugs:- penicillin,phenytoin, captopril.
o Hyperthyroidism
o Central fever ( head trauma, injury )
Introduction
Personal, cl
 Duration:- Temperature > 38.2 on several occasions for more
than 3 weeks
 Onset:-
o Acute:- malaria, pyogenic infection
o Gradual:- TB , typhoid fever
Present H  Course:- Temperature > 38.2 on several occasions
o Persistent:- typhoid, drugs
o Intermittent:-
 Daily spikes:- abscess, TB, schistosomiasis
 Twice daily:- leishmaniasis
o Recurrent :- non falciparum malaria, brucellosis,
 Hodgkin's
 Antecedents:-
o Dental extraction:- infective endocarditis
o Urinary catheterization:- UTI, bacteremia
 Chills & rigors:- bacterial, leukemia, lymphoma
Related  Night sweats:- TB, hodgkin’s lymphoma
symptoms  Loss of wt:- malignancy, TB, immunodeficiency

 Chest:- Cough & dyspnea:- military TB, AIDS with PCP

 Cardio:-
 Abdomen:- Abd.pain & altered bowel habits:- crohn’s
Other disease
systems  Neuro:- Headache:- typhoid fever, sinusitis
 MSK:- Joint pain:- RA, SLE, vasculitis,,,, limb pain:- ALL
 Skin:- Rash:- SLE
 Others:-
Past H

Perinatal H

VA

GDP
 TB
Family H  FMF
 HIV
 Recent travel abroad :- malaria, brucella, typhoid.
 Contact with animals:- toxoplasmosis
 Diet history:- unpasteurized milk:- brucella, poorly cooked
pork:- trichinosis
Social H
 IV drug abuse:- HIV
 Sexual orientation:- HIV, STD
 Close contact with TB
 Occupation:- farmer
 Examination
management  Investigations:-
o Stage 1
  CBC
 ESR & CRP
 UE
 LFT
 U M/C/S
 S M/C/S
 B C/S
 Sputum C/S
 CXR
 Mantaux test
o Stage 2
 ECHO cadriography
 CT ( chest, abdomen , pelvis )
 Auto antibody screen ( ANA, RF, ANCA, Ds DNA )
 L.P.
 HIV test
o Stage 3
 Exploratory laparotomy
 Liver biobsy
 B.M. biobsy
 Developmental delay
Task
8 months old baby presented with “ not sitting ’’
Causes of delayed milestones
 Genetic disorders:- down, fragile X, Pradder willi
 Metabolic disorders:- eg:- Zelweger, Smith limli optiz, Phenyl
ketonuria, (doesn’t start at birth) pompe
DD
 Endocrine disorders:- hypothyroidism
 Spectrum disorders:- Autism, rett syndrome
 Neurological disorders:- HIE, head trauma, meningitis, SMA,
myotonic dystrophy
Introduction
Personal, cl
 Duration? Onset? Course? Triggering? Any preceding illness?
 DEVELPMENTAL H. in details:- gross & fine motor ,
Present H
speech&hearing, social. ( isolated or global ?)
 Did he reach milestones then lost it?
Related
symptoms
 Chest:-
 Cardio:-
 Abdomen:-
Other
 Neuro:- abnormal movements, do you feel his body is weak?
systems
 MSK:-
 Skin:-
 Others:-
 Any H/O meningitis
Past H
 Any H/O head trauma
Detailed perinatal H
 Prenatal:- maternal health, smoking, fever, rash, DM, HTN,
antepartum hge )
 Natal:- Delivery, resuscitation.
Perinatal H
 Postnatal:-
o Resp. Management in SCBU and number of days on O2
o SCBU problems:- PDA, IVH, ROP, NEC,TPN, kernicterus
o Total length of time in SCBU
VA
 G DP
 Any similar condition in the family?
Family H  Any other inherited conditions?
 Consanguinity
Social H
 Examination:-
o Full developmental assessment to know whether it’s
isolated or global developmental delay
o Full neurological examination
Management
o Look for any dysmorphic features
 Investigations:-
o CPK
o Brain imaging
 Task 4 yrs old boy with frequent falls
 DMD
 BMD
 HSMN
 Dermatomyositis
 SMA III
 Ataxia
o Acute:-
 Infectious or post infectious:- chicken pox,
mycoplasma
 Structural lesions:- tumours, hydrocephalus
 Drugs:- phenytoin toxicity
 Metabolic disorders
DD  Vascular :- eg. Basilar artery thrombosis
o Intermittent:-
 Migraine
 Epilepsy
 Inherited recurrent ataxia ( hartnup disease )
o Chronic:-
 Cerebellar malformation eg. Dandy-walker synd
 Friedreich’s ataxia
 Ataxia telangectasia
 Wilson’s disease
 Refsum disease
 Vitamin E deficiency – abetalipoproteinemia
 Dysgenesis of the cerebellar vermis:- Joubert synd
Introduction
Personal, cl
 Duration? Onset? Course? Triggering? Any preceding illness?
 H/O trauma
 Recent infection
 DEVELPMENTAL H. in details:- gross & fine motor ,
Present H
speech&hearing, social. ( isolated or global ?)
 Did he reach milestones then lost it?
 Ask :- climbing stairs, combing hair ( proximal )
 Ask:- writing, holding cup, kick ball ( distal )
  What can he do?
 What can’t he do?
Related
symptoms
 Chest:-
 Cardio:-
 Abdomen:- vomiting
Other
 Neuro:- abnormal movements? Headache? blurred vision
systems
 MSK:- limbing? Pain?
 Skin:- rash on finger knuckles or above eyelid, telangectasia?
 Others:-
Past H 
Detailed perinatal H
 Prenatal:- maternal health, smoking, fever, rash, DM, HTN,
antepartum hge )
 Natal:- Delivery, resuscitation.
Perinatal H  Postnatal:-
o Resp. Management in SCBU and number of days on O2
o SCBU problems:- PDA, IVH, ROP, NEC,TPN, kernicterus
o Total length of time in SCBU

VA

G DP
 Any similar disease?
Family H  Consanguinity
 Any member of the family wheelchair bound?
Social H
 Examination:-
o Full developmental assessment to know whether it’s
isolated or global developmental delay
Management o Full neurological examination
o Look for any dysmorphic features
 Investigations:-
o CPK
o EMG
o NC
o DNA analysis
o Brain imaging
 Chorea
Task
6 yrs old child with abnormal movements
 Primary / Idiopathic:-
o Huntington’s disease
o Benign hereditary chorea
 Acquired:-
o Drugs or toxins:- phenytoin, carbamazepine
o Choreoathetoid CP
o Wilson’s disease
DD
o Postinfectious :- meningitis ( including aseptic
meningitis) subacute bacterial endocarditis
o Immune mediated:- sydenham’s chorea ( rheumatic
fever ), SLE
o Kernicterus
o Vascular chorea:- stroke, polycythemia

Introduction
Personal, cl
 Describe , any video recording, any loss of consciousness
 Onset, course , duration , worsening factors, relieving factors
 Triggering:-
Present H
o Recent infection
o Recent fever
o Head trauma
Related
symptoms
 Chest:- recent URTI, fever
 Cardio:- easy fatigability ( exercise intolerance )
 Abdomen:- vomiting
Other
 Neuro:- headache, vision abnormality
systems
 MSK:-
 Skin:- rash  SLE
 Others:-
 Any chronic disease
 Any medications:- toxicity
Past H
 Any H/O meningitis
 Any H/O head trauma
  H/O measles :- Sub acute sclerosing pan encephalitis
In details ( bcz CP & Kernicterus part of DD )
 Prenatal:- maternal health, smoking, fever, rash, DM, HTN,
antepartum hge )
 Natal:- Delivery, resuscitation.
Perinatal H  Postnatal:-
o Resp. Management in SCBU and number of days on O2
o SCBU problems:- PDA, IVH, ROP, NEC,TPN, kernicterus
o Total length of time in SCBU

VA

G D P

Family H Very important bcz Huntington’s chorea AD

Social H
 Task HTN
 Renin dependent:-
o Renal parenchymal disease
o Renovascular :- RTA
o Renal tumours
o H/o repeated UTI
DD  Coarctation of Aorta
 Catecholamine excess:- Pheochromocytoma, Neuroblastoma
 Endocrine:- CAH, Cushing’s disease, corticosteroid therapy
 Neurocutaneous D:- neurofibromatosis
 Prematurity:- UAC  renal artery thrombosis
 Essential HTN
Introduction
Personal, cl
Present H
Related
symptoms
 Chest:-
 Cardio:-
 Abdomen:-
Other
 Neuro:-
systems
 MSK:-
 Skin:-
 Others:-
Past H

Perinatal H

VA

GDP

Family H

Social H

INVX  Lab:-
 o Urine analysis MC/S
o RFT, LFT, CBC,CRP
o Peripheral plasma rennin & aldosterone
o Spot urine for Catecholamines
 Imaging:-
o Pelvic US
o ECG
o ECHO
o 4 limb BP
 2ndry INVX:-
o Renal aetiology suspected:-
 DMS
 Direct or indirect cystogram
 Renal angiography
 Intravenous urography
 Renal biobsy
o Catecholamine excess suspected:-
 CT / MRI
 I123 MIBG
o Corticosteroid excess suspected:-
 Urinary steroid profile
 Steroid suppression test
 Adrenal CT/MRI
 4 yrs old referred with fever for assessment
Task Background:- assessed 2 yrs back and found to have
innocent murmur
DD U must exclude infective endocarditis
Introduction
Personal, cl
Present H
Related
symptoms
 Chest:- dyspnea
 Cardio:- malaise,
 Abdomen:- tummy pain , red urine?
Other
 Neuro:-
systems
 MSK:- joints and muscles pain?
 Skin:- rashes, nail rashes
 Others:- recent tooth extraction, oral hygien,
Past H

Perinatal H

VA

GDP

Family H

Social H