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SYNDROMES,TRIADS,MURMUR,GENETICAL DISEASE

Environmental causes
ACUTE RADIATION SYNDROME: Radiation exposure.
o 12 hours post-exposure: Vomiting
o 24 hours post-exposure: Prostration (extreme exhaustion), fever, diarrhea
o Later: Petechial hemorrhage, hypotension, tachycardia, profuse bloody diarrhea, maybe
death.
• CHINESE RESTAURANT SYNDROME: MSG reaction ------> Chest Pain, burning sensation
over parts of body.
• BROWN-SEQUARD SYNDROME: Damage (injury) to half of spinal cord ------> symptoms:
o Loss of pain and temperature sensation on contralateral side of body.
o Loss of proprioception and discriminatory touch on ipsilateral side of body.
CARDIOVASCULAR
• ADAMS-STOKES SYNDROME: Heart block, with slow or absent pulse, often accompanied
by convulsions.
• BARLOW SYNDROME: Floppy Mitral Valve Syndrome; Massive Mitral Valve Prolapse ----
--> Late apical systolic murmur, systolic click, or both.
• EISENMENGER'S SYNDROME: Ventricular-Septal Defect ------> Pulmonary hypertension
and cyanosis.
• FLOPPY-VALVE SYNDROME: Mitral Incompetence due to myxomatous degeneration of the
leaflets.
• LERICHE'S SYNDROME: Occlusion of distal aorta ------>
o Hip, thigh, and calf fatigue.
o Impotence
• BEHCET'S SYNDROME: Vasculitis ------> secondary symptoms:
o Oral and genital ulcers
o Uveitis
o Optic atrophy
• SHOULDER-HAND SYNDROME: Pain in shoulder and swelling in hand, sometimes
occurring after Myocardial Infarction.
• SICK SINUS SYNDROME: Chaotic atrial activity; continual changes in P-Waves.
Bradycardia, alternating with recurrent ectopic beats and runs of tachycardia.
• SUPERIOR VENA CAVA SYNDROME: Caused by a tumor. Obstruction of SVC ------>
o Edema
o Engorgement of the vessels of face, neck, and arms.
o Nonproductive cough
o Dyspnea
• TAKAYASU'S SYNDROME: Arteritis of the Aortic Arch, resulting in no pulse. Seen in young
women.
• WOLF-PARKINSON WHITE SYNDROME: ECG pattern of Paroxysmal Tachycardia.
o Short PR interval
o Delta wave = early QRS complex.
IATROGENIC (or Secondary to Medical Treatment)
• AFFERENT LOOP SYNDROME: Gastrojejunal loop obstruction, proximal to a
gastrojejunostomy.
Milton Wolf Page 1 of 9 10/16/10
o Ingestion of food produces nausea, pain, and duodenal distension.
• ASHERMAN'S SYNDROME: Adhesions within the endometrial cavity, causing amenorrhea
and infertility.
o Adhesions probably were caused by surgery.
• ULYSSES SYNDROME: Ill effects from follow-up diagnostic tests following a false-positive
screening test.
NEOPLASTIC (Malignant or Benign)
• CARCINOID SYNDROME: Carcinoid tumor producing Bradykinin + Serotonin ------>
secondary symptoms:
o Cyanotic flushing
o Diarrhea
o Bronchial spasm
o Edema, ascites.
•
• CRONKHITE-CANADA SYNDROME: GI-Polyps with diffuse alopecia (hair-loss) and nail
dystrophy.
o May see protein-losing enteropathy and malabsorption.
•
• GARDNER'S SYNDROME: Multiple inherited tumors, hereditary dominant trait.
o Skull osteomas, Fibromas, Epidermoid cysts
o Colonic polyposis (APC gene) ------> predisposition to colonic adenocarcinoma.
•
• LAMBERT-EATON SYNDROME: Progressive proximal muscle weakness secondary to a
carcinoma.
•
• MEIGS' SYNDROME: Fibroma of ovary with ascites and hydrothorax
•
• PANCOAST SYNDROME: Tumor near pulmonary apex ------>
o Neuritic pain of chest and arm
o Muscle atrophy of the arm
o Horner's Syndrome (impaired cervical sympathetics)
•
• PEUTZ-JEGHERS SYNDROME: Polyposis (hamartomas) of small intestine
o Also see melanin pigmentation of buccal mucosa and skin around mouth and lips
CONGENITAL
• CEREBELLAR SYNDROME: Congenital Cerebellar Ataxia
• CERVICAL SYNDROME: Supernumerary C7 rib ------> Pressure on brachial plexus ------>
pain radiating over shoulder, arm, and forearm over C7 distribution.
• DANDY-WALKER SYNDROME: Obstruction of Foramina of Magendie and Luschka in
infants ------> Hydrocephalus.
• DIGEORGE SYNDROME: Congenital absence of 3rd and 4th Branchial Arches (Thymus and
Parathyroid Glands) ------> secondary symptoms:
o No cell-mediated immunity ------> Frequent viral and fungal infections
o Characteristic facial deformities
• DOWN SYNDROME: Trisomy 21. Mental retardation, characteristic facial features, Simeon
crease in hand.
• FANCONI'S SYNDROME Type I: Bone-marrow hypoplasia ------> refractory anemia,
pancytopenia.
• EHLERS-DANLOS SYNDROME: Congenital defect in collagen.
o Hyper-elasticity and friability of the skin.
o Hyperextensibility of the joints.
• FETAL ALCOHOL SYNDROME: Fetal malformations, growth deficiencies, craniofacial
anomalies, limb defects.
• GOODPASTURE'S SYNDROME: Autoantibodies against basement membranes ------>
Glomerulonephritis (kidney) and hemoptysis (lungs).
o Often, death by renal failure
• KLINEFELTER'S SYNDROME: Trisomy XXY ------> testicular atrophy, increase in
gonadotropins in urine.
• KLIPPEL-FEIL SYNDROME:
o Cervical vertebrate fused
o Congenital short neck, limited neck rotation
o Abnormalities of the brainstem and cerebellum
o Low hairline.
• LESCH-NYHAN SYNDROME: Deficiency of HGPRT (Hypoxanthine-Guanine Phosphoribosyltransferase
------>
o Hyperuricemia, uric acid kidney stones
o Choreoathetosis
o Mental retardation, autism, spastic cerebral palsy
o X-Linked recessive
• MARFAN SYNDROME: Connective Tissue disorder ------>
o Arachnodactyly: Abnormally long digits and extremities
o Subluxation of lens
o Dissecting aortic aneurism
• POSTRUBELLA SYNDROME: Infantile defects resulting from maternal Rubella infection
during first trimester.
o Microphthalmos, cataracts
o Deafness
o Mental retardation
o Patent ductus arteriosis, Pulmonary arterial stenosis
• PRADER-WILLI SYNDROME: Short stature, mental retardation, polyphagia with marked
obesity, sexual infantilism.
• RENDU-OSLER-WEBER SYNDROME: Hereditary hemorrhagic telangiectasia.
•
• SUDDEN INFANT DEATH SYNDROME: Unexplained death in sleeping infants.
•
• TURNER'S SYNDROME: XO monosomy.
o Dwarfism
o Webbed neck
o Valgus of elbow.
o Amenorrhea
• WILSON SYNDROME: Congenital defect in Ceruloplasmin, leading to buildup of copper ------
> mental retardation, cirrhosis, hepatolenticular degeneration.
ENDOCRINE, REPRODUCTIVE
• AMENNORRHEA-GALACTORRHEA SYNDROME: Non-physiologic lactation, resulting
from endocrinologic causes or from a pituitary disorder.
• CONN'S SYNDROME: Primary Hyperaldosteronism ------> muscular weakness, hypertension,
hypokalemia, alkalosis.
• CUSHING'S SYNDROME: Hypersecretion of cortisol ------> secondary symptoms and
characteristics:
o Fatness of face and trunk with wasting of extremities
o Buffalo hump
o Bone decalacification
o Corticoid diabetes
o Hypertension
• PREMENSTRUAL SYNDROME: Abnormal sensation in breasts, abdominal pain, thirst,
headache, pelvic congestion, nervous irritability.
o Ocassionally nausea and vomiting.
• SHEEHAN'S SYNDROME: Post-partum pituitary necrosis ------> hypopituitarism.
• STEIN-LEVENTHAL SYNDROME: Polycystic ovary ------> infertility, amenorrhea,

Milton Wolf Page 3 of 9 10/16/10

hirsutism. Seen in obese women.
• TESTICULAR FEMINIZATION SYNDROME: Insensitivity to Testosterone. Male
Psuedohermaphroditism
o Complete female external genatalia, incompletely developed vagina, rudimentary uterus.
o
PULMONARY
• KARTAGENER'S SYNDROME: Situs Inversus (lateral transposition of lungs) resulting from
chronic sinusitis and bronchiectasis.
• HAMMAN-RICH SYNDROME: Interstitial fibrosis of the lung.
• MIDDLE-LOBE SYNDROME: Chronic pneumonitis and atalectasis of middle lobe of right
lung.
• CHURG-STRAUSS SYNDROME: Allergic Granulomatous Angiitis: Asthma, fever,
eosinophilia.
INFECTIOUS
• FITZ-HUGH-CURTIS SYNDROME: Gonococcal Periphepatitis in woman, as a complication
of Gonorrhea.
• GUILLAIN-BARRE SYNDROME: Infectious Polyneuritis of unknown cause.
• HUNT'S SYNDROME: Herpe's Zoster infection of Facial Nerve (CN VII) and Geniculate
Ganglion ------> facial palsy.
o Zoster of ear
• PARINAUD'S SYNDROME: Preauricular lymph node enlargement on the same side as
conjunctivitis.
• REYE'S SYNDROME: Loss of consciousness and seizures in kids, after a viral infection treated
by aspirin.
• REITER'S SYNDROME: Symptom cluster. Etiology is thought to be Chlamydial or postchlamydial.
o Urethritis
o Iridocyclitis (Conjunctivitis)
o Arthritis
o Skin lesions like karatoderma blenorrhagicum
o Also can see fatty liver or liver necrosis.
• SCALDED SKIN SYNDROME: S. Aureus toxic epidermal necrolysis.
• STEVENS-JOHNSON SYNDROME: Erythema Multiforme complication.
o Large areas of skin slough, including mouth and anogenital membranes.
o Mucous membranes: stomatitis, urethritis, conjunctivitis.
o Headache, fever, malaise.
• TOXIC SHOCK SYNDROME: Caused by superabsorbent tampons. Infection with Staph
Aureus and subsequent toxicity of exotoxin TSST ------> systemic anaphylaxis.
o Fever, vomiting, diarrhea
o Red rash followed by desquamation
• WATERHOUSE-FRIEDRICHSON SYNDROME: Meningeococcal Meningitis ------> DIC,
hemorrhagic infarct of adrenal glands ------> fulminant adrenal failure.
o Vomiting, diarrhea.
o Shock
o Extensive purpura, cyanosis, circulatory collapse.
o
RENAL
• KEMMELSTIEL-WILSON SYNDROME: Diabetic Glomerulosclerosis.
• BARTTER'S SYNDROME: Juxtaglomerular Cell Hyperplasia ------> secondary symptoms:
o Hyperaldosteronism, Hypokalemic Alkalosis, elevated renin and angiotensin
o No hypertension.
o Compare to Conn's Syndrome
• FANCONI'S SYNDROME Type II: Renal aminoaciduria, glycosuria, hypophosphaturia,
cysteine deposition, rickets.
• THORN'S SYNDROME: Salt-losing nephritis.
NEUROLOGICAL
• CARPAL-TUNNEL SYNDROME: Compression of Median Nerve through the Carpal Tunnel -
-----> pain and parasthesia over distribution of Median N.
• FROIN'S SYNDROME: Block in CSF flow ------> xanthochromia (yellow discoloration) of
CSF.
• ACUTE-BRAIN SYNDROME: Delirium, confusion, disorientation, developing suddenly in a
person that was previously psychologically normal.
• GERSTMANN'S SYNDROME: Lesion between occipital area and angular gyrus ------>
symptoms:
o Finger agnosia, Agraphia, acalculia
o Right-left disorientation
• HORNER'S SYNDROME: Loss or lesion of cervical sympathetic ganglion ------>
o Ptosis, miosis, anhydrosis
o Enophthalmos (caved in eyes)
• KORSAKOFF SYNDROME: Loss of short-term memory in chronic alcoholism, caused by
degeneration of mamillary bodies.
• RILEY-DAY SYNDROME: Familial dysautonomia.
•
GASTROINTESTINAL
• MALLORY-WEISS SYNDROME: Laceration of lower end of esophagus from vomiting ------>
hematemesis. Often seen in alcoholics.
• MALABSORPTION SYNDROME: Impaired absorption of dietary substance ------> diarrhea,
weakness, weight loss, or symptoms from specific deficiencies.
• BARRETT SYNDROME: Chronic peptic ulcer of the lower esophagus, resulting in metaplasia
of esophageal columnar epithelium ------> squamous epithelium.
• ZOLLINGER-ELLISON SYNDROME: Gastrin-secreting tumor in pancreas ------> Severe
peptic ulcers, gastric hyperacidity.
• PLUMMER-VINSON SYNDROME: Esophageal Webs, leading to dysphagis and atrophy of
papillae of tongue.
o Also see hypochromic anemia, splenomegaly.
RETICULOENDOTHELIAL, HEMATOLOGIC
• BANTI'S SYNDROME: Chronic Congestive Splenomegaly with anemia, caused by either Portal
Hypertension or Splenic Vein Thrombosis.
• BUDD-CHIARI SYNDROME:
o ACUTE: Hepatic Vein Thrombosis ------> Massive ascites and dramatic death.
o CHRONIC: Gradual hepatomegaly, portal hypertension, nausea, vomiting, edema, ulimately
death.
• DUBIN-JOHNSON SYNDROME: Defect in excretion of conjugated bilirubin ------> recurrent
mild jaundice. Buildup of direct builirubin in blood.
• CHIDIAK-HIGASHI SYNDROME: Abnormalities in leukocytes with large inclusions.
• CRUVEILHIER-BAUMGARTEN SYNDROME: Symptoms cluster:
o Liver cirrhosis
o Caput Medussae
o Venous hum and thrill
• FELTY'S SYNDROME: Rheumatoid Arthritis with splenomegaly, leukopenia, anemia, and
thrombocytopenia.
• LOFFLER'S SYNDROME: Eosinophilia with transient infiltrates in lungs.
• PARINAUD'S SYNDROME: Preauricular lymph node enlargement on the same side as
conjunctivitis.
UNCATEGORIZED
• YELLOW-NAIL SYNDROME: Stop growth of nails ------> increased convexity, thickening,
and yellowing of nails.
o Found in Lymphedema, bronchitis, chronic bronchiectasis.
• COSTOCHONDRAL SYNDROME: Pain in chest with tenderness over one or more
costochondral junctions.
o Similar to Tietze's Syndrome but no specific inflammation.
Milton Wolf Page 5 of 9 10/16/10
• TIETZE'S SYNDROME: Costochondritis. Swelling and tenderness of the costal cartilege.
• MIKULICZ'S SYNDROME: Salivary and lacrimal enlargement as seen in several diseases:
o Sarcoidosis
o Tuberculosis
o Leukemia
• MUNCHAUSEN SYNDROME: Malingering -- fabrication of a clinically convincing disease by
an itinerant malingerer.
• PICKWICKIAN SYNDROME: Symptom cluster
o Obesity
o Hypoventilation
o Somnolence
o Erythrocytosis
• RESTLESS LEGS SYNDROME: Need to stretch legs at night before going to sleep; twitch in
legs causing insomnia.
• STRAIGHT BACK SYNDROME: Loss of normal kyphosis of thoracic spine ------>
o Straight spine
o Ejection murmur
o Widened cardiac silouhette on x-ray
• SJ?REN'S SYNDROME: Autoimmune complex
o Keratoconjuctivitis Sicca (dry eyes and mouth)
o Dryness of Mucous membranes
o Telangiectasias in face
o Parotid enlargement
HEART MURMURS
Murmur Description Indication
Cooing Murmur Musical murmur
Holosystolic Murmur Pansystolic murmur
Innocent Murmur Functional murmur without anatomic
abnormality for the murmur.
Musical Murmur Having a musical quality
Pansystolic Murmur Occupies entire interval of systole.
Regurgitant Murmur Caused by leakage of an incompetent
heart valve.
Hemic Murmur
Flow Murmur
Murmur heard, but no valvular lesions.
Due to blood turbulence.
Anemia
Austin Flint Murmur Presystolic murmur similar to mitral
stenosis, heard at cardiac apex. Caused
by regurgitation from Aorta partially
narrowing the mitral valve.
Aortic Insufficiency
Diamond-Shaped Murmur Crescendo-Decrescendo murmur Aortic Stenosis
Pulmonic Stenosis
Early Diastolic Murmur Begins right after the second heart sound. Aortic Insufficiency
Ejection Murmur Diamond-shaped systolic murmur ending
before the second heart sound, produced
by the ejection of blood into the Aorta or
Pulmonary Arteries
Aortic Stenosis
Pulmonic Stenosis
Cardiopulmonary Murmur Related to movement of the heart, and
disappearing when the breath is held.
Innocent
Still's Murmur Innocent musical murmur resembling a
twanging string
Innocent
Late Systolic Murmur Diamond-shaped murmur late in systole.
Often accompanied by mid or late systolic
click.
Mitral Valve Prolapse (MVP)
Middiastolic Murmur Begins after the AV valves have opened
in diastole.
Mitral Stenosis
Presystolic Murmur Occurs during late diastole, caused by
contraction of the atria.
Mitral Stenosis
Narrowing of the AV valves
Machinery Murmur Continuous rumbling murmur, heard
throughout systole and diastole.
Patent Ductus Arteriosus
Extracardiac Murmur Heard over precordium, but originating
from structures other than the heart
Pericardial Friction Rubs
Graham Steele's Murmur Early diastolic murmur heard over Erb's
Point.
Pulmonic Insufficiency,
secondary to Pulmonary
Hypertension and Mitral
Stenosis.
Roger's Murmur Loud pansystolic murmur maximal at the
left sternal border.
Ventricular Septal Defect
(VSD)
TABLE of GENETIC DISORDERS
Disease Category Pathogenesis / Heredity Pathology, Cardinal Symptoms
Cystic Fibrosis Autosomal Recessive. CFTR gene
defect on Chrom 7 ------> No Cltransport
and failure to hydrate
mucous secretions (no NaCl
transport) ------> excessively
viscous mucoid exocrine secretions
Meconium ileus (caused by thick,
mucoid meconium), respiratory
bronchiectasis, Pseudomonas
pneumonia, pancreatic insufficiency,
hypertonic (high Cl- concentration)
sweat.
Fanconi Anemia Autosomal Recessive congenital
pancytopenia.
Normocytic anemia with
neutropenia.
Short stature, microcephaly,
hypogenitalism, strabismus,
anomalies of the thumbs, radii, and
kidneys, mental retardation, and
microphthalmia.
Hartnup's Disease Autosomal Recessive. Defect in GI
uptake of neutral amino acids ------
> malabsorption of tryptophan
(niacin precursor) ------> niacin
deficiency among other things.
Pellagra-like syndrome (diarrhea,
dementia, dermatitis), light-sensitive
Milton Wolf Page 7 of 9 10/16/10
skin rash, temporary cerebellar
ataxia.
Kartagener's Syndrome Autosomal Recessive. Defect in
dynein arms ------> lost motility
of cilia
Recurrent sinopulmonary
infections (due to impaired ciliary
tract). Situs inversus, due to
impaired ciliary motion during
embryogenesis: lateral transposition
of lungs, abdominal and thoracic
viscera are on opposite sides of the
body as normal. Possible
dextrocardia, male sterility.
Pyruvate Dehydrogenase
Deficiency
Autosomal Recessive. Pyruvate
Dehydrogenase deficiency ------>
buildup of lactate and pyruvate ----
--> lactic acidosis.
Neurologic defects.
Treatment: Increase intake of
ketogenic nutrients (leucine, lysine)
------> increase formation of Acetyl-
CoA from other sources.
Xeroderma Pigmentosum
Autosomal Recessive. Defect in
DNA repair, inability to repair
thymine dimers resulting from
Dry skin, melanomas, pre-malignant
lesions, other cancers. Ophthalmic
and neurologic abnormalities.
UV-light exposure ------>
excessive skin damage and skin
cancer.
Familial Hypercholesterolemia Autosomal
Dominant
Disorders
A group of inherited diseases
associated with
hypercholestrolemia.
Heterozygous: accelerated
atherosclerosis. Homozygous:
accelerated atherosclerosis, MI by
age 35, xanthomas.
Hereditary Hemorrhagic
Telangiectasia (Osler-Weber-
Rendu Syndrome)
Autosomal
Dominant
Disorders
Autosomal Dominant. Telangiectasias of skin and mucous
membranes.
Hereditary Spherocytosis Autosomal
Dominant
Disorders
Autosomal Dominant. Band-3
deficiency in RBC membrane ------
> spherical shape to cells. Other
RBC structural enzyme
deficiencies can cause it, too.
Sequestration of spherocytes in
spleen ------> hemolytic anemia.
Huntington's Disease Autosomal
Dominant
Disorders
Autosomal Dominant, 100%
penetrance.
Genetic defect on Chrom 4 ------>
atrophy of caudate nuclei,
putamen, frontal cortex.
Progressive dementia with onset in
adulthood, choreiform movements,
athetosis.
Marfan's Syndrome Autosomal
Dominant
Disorders
Autosomal Dominant. Fibrillin
deficiency ------> faulty
scaffolding in connective tissue
(elastin has no anchor).
Arachnodactyly, dissecting aortic
aneurysms, ectopia lentis
(subluxation of lens), mitral valve
prolapse.
Neurofibromatosis (Von
Recklinghausen Disease)
Autosomal
Dominant
Disorders
Autosomal Dominant. NF1 gene
defect (no GTPase protein) ------>
dysregulation of Ras tumorsuppressor
protein.
Multiple neurofibromas (Caf au
Lait spots) which may become
malignant, Lisch nodules
(pigmented hamartomas of the iris).
Increased risk for tumors:
pheochromocytoma, Wilms tumor,
Rhabdomyosarcoma, leukemias.
Tuberous Sclerosis
Autosomal
Dominant
Disorders
Autosomal Dominant. Tubers (glial nodules), seizures,
mental retardation. Associated with
adenoma sebaceum (facial lesion),
myocardial rhabdomyomas, renal
angiomyolipomas
.
Von Hippel-Lindau Syndrome Autosomal
Milton Wolf Page 9 of 9 10/16/10
Dominant
Disorders
Autosomal Dominant, short arm of
chromosome 3. Same genetic
region is associated with incidence
of renal cell carcinoma.
(1) Hemangioblastomas of
cerebellum, medulla, or retina, (2)
adenomas, (3) cysts in visceral
organs. High risk for renal cell
carcinoma.
Congenital Fructose Intolerance Carbohydrate
Metabolism
Defect
Autosomal Recessive. Aldolase B
deficiency ------> buildup of
Fructose-1-Phosphate in tissues --
----> inhibit glycogenolysis and
gluconeogenesis.
Severe hypoglycemia. Treatment:
Remove fructose from diet.
Galactosemia Carbohydrate
Metabolism
Defect
Autosomal Recessive. Inability to
convert galactose to glucose ------>
accumulation of galactose in many
tissues.
(1) Classic form: Galactose-1-
phosphate Uridyltransferase
deficiency.
(2) Rarer form: Galactokinase
deficiency.
Failure to thrive, infantile cataracts,
mental retardation. Progressive
hepatic failure, cirrhosis, death.
Galactokinase-deficiency: infantile
cataracts are prominent.
Treatment: in either case, remove
galactose from diet.
Angelman Syndrome Chromosomal Deletion of part of short arm of
chromosome 15, maternal copy.
An example of genomic
imprinting.
Mental retardation, ataxic gait,
seizures. Inappropriate laughter.
Cri du Chat Syndrome Chromosomal 5p-, deletion of the long arm of
chromosome 5.
"Cry of the cat." Severe mental
retardation, microcephaly, cat-like
cry. Low birth-weight, round-face,
hypertelorism (wide-set eyes), lowset
ears, epicanthal folds.
Down Syndrome
(Trisomy 21)
Chromosomal Trisomy 21, with risk increasing
with maternal age. Familial form
(no age-associated risk) is
translocation t(21,x) in a minority
of cases.
Most common cause of mental
retardation. Will see epicanthal folds,
simian crease, brushfield spots in
eyes. Associated syndromes:
congenital heart disease, leukemia,
premature Alzheimer's disease
Edward's Syndrome
(Trisomy 18)
Chromosomal Trisomy 18 Mental retardation, micrognathia,
rocker-bottom feet, congenital heart
disease, flexion deformities of
fingers. Death by 1 year old.
Patau's Syndrome Chromosomal Trisomy 13 Mental retardation, microphthalmia,
cleft lip and palate, polydactyly,
(Trisomy 13)
rocker-bottom feet, congenital heart
disease. Similar to and more severe
than Edward's Syndrome. Death by 1
year old.
Prader-Willi Syndrome Chromosomal Deletion of part of short arm of
chromosome 15, paternal copy.
An example of genomic
imprinting.
Mental retardation, short stature,
hypotonia, obesity and huge appetite
after infancy. Small hands and feet,
hypogonadism.
Fragile-X Syndrome Chromosomal
Sex
chromosome
Progressively longer tandem
repeats on the long arm of the Xchromosome.
The longer the
number of repeats, the worse the
syndrome. Tandem repeats tend to
accumulate through generations.
Second most common cause of
mental retardation next to Down
Syndrome. Macro-orchidism
(enlarged testes) in males.
Klinefelter's Syndrome (XXY) Chromosomal
Sex
chromosome
Non-disjunction of the sex
chromosome during Anaphase I of
meiosis ------> Trisomy (47,XXY)
Hypogonadism, tall stature,
gynecomastia. Mild mental
retardation. Usually not diagnosed
until after puberty. One Barr body
seen on buccal smear.
Turner's Syndrome (XO) Chromosomal
Milton Wolf Page 11 of 9 10/16/10
Sex
chromosome
Non-disjunction of the sex
chromosome during Anaphase I of
meiosis ------> Monosomy (45,X)
Streak gonads, primary amenorrhea,
webbed neck, short stature,
coarctation of Aorta, infantile
genitalia. No mental retardation. No
Barr bodies visible on buccal smear.
XXX Syndrome Chromosomal
Sex
chromosome
Trisomy (47,XXX) and other
multiple X-chromosome
abnormalities.
Usually phenotypically normal. May
see menstrual abnormalities or mild
mental retardation in some cases.
Ehlers-Danlos Syndrome Connective
Tissue
disease
Various defects in collagen
synthesis.
• Type-I: Autosomal
dominant, mildest form.
• Type-IV: autosomal
dominant. Defect in
reticular collagen (type-III)
• Type-VI: autosomalrecessive.
• Type-VII: Defect in
collagen type I
Type-IX: X-linked recessive
Laxity of joints, hyperextensibility of
skin, poor wound healing,
aneurysms.
• Type-I: Diaphragmatic
hernia. Common, normal
life-expectancy.
• Type-IV: Ecchymoses,
arterial rupture. Dangerous
due to rupture aneurysms.
• Type-VI: Retinal
detachment, corneal rupture
Osteogenesis Imperfecta Connective
tissue disease
Defects in Collagen Type I
formation.
Multiple fractures after birth, blue
sclerae, thin skin, progressive
deafness in some types (due to
abnormal middle ear ossicles).
Type-I is most common; Type-II is
most severe; Type-IV is mildest
form.
Cori's Disease
(Glycogen Storage Disease Type
III)
Glycogen
Storage
Disease
Autosomal Recessive.
Debranching enzyme deficiency
(can only break down linear chains
of glycogen, not at branch points) -
-----> accumulate glycogen in
liver, heart, skeletal muscle.
Stunted growth, hepatomegaly,
hypoglycemia.
McArdle's Disease
(Glycogen Storage Disease Type
V)
Glycogen
Storage
Disease
Autosomal Recessive. muscle
phosphorylase deficiency (cannot
utilize glycogen in skeletal muscle)
------> accumulation of glycogen in
skeletal muscle.
Muscle cramps, muscle weakness,
easy fatigability. Myoglobinuria with
strenuous exercise.
Pompe's Disease
(Glycogen Storage Disease Type
II)
Glycogen
Storage
Disease
Autosomal Recessive. alpha-1,4-
Glucosidase deficiency (cannot
break down glycogen) ------>
accumulate glycogen in liver,
heart, skeletal muscle.
Cardiomegaly, hepatomegaly, and
systemic findings, leading to early
death.
Von Gierke's Disease
(Glycogen Storage Disease Type
I)
Glycogen
Storage
Disease
Autosomal Recessive. Glucose-6-
Phosphatase deficiency (cannot
break down glycogen) ------>
accumulate glycogen in liver and
kidney.
Severe fasting hypoglycemia,
hepatomegaly from lots of glycogen
in liver.
Milton Wolf Page 13 of 9 10/16/10
Hemophilia A (Factor VIII
Deficiency)
Hemophilia X-Linked Recessive. Factor VIII
deficiency
Hemorrhage, hematuria,
hemarthroses. Prolonged PTT.
Hemophilia B (Factor IX
Deficiency)
Hemophilia X-Linked Recessive. Factor IX
deficiency.
Milder than Hemophilia A.
Hemorrhage, hematuria,
hemarthroses. Prolonged PTT.
Von Willebrand Disease Hemophilia Autosomal dominant and recessive
varieties. Von Willebrand Factor
deficiency ------> defect in initial
formation of platelet plugs, and
shorter half-life of Factor VIII in
blood.
Hemorrhage, similar to hemophilia.
Type-I: Most mild. Type-II:
Intermediate. Type-III: most severe,
with recessive inheritance (complete
absence).
Ataxia-Telangiectasia
Immune
Autosomal Recessive. Unknown.
Cerebellar ataxia, telangiectasia
deficiency
Combined
Deficiency
Numerous chromosomal breaks
and elevated AFP is found.
Symptomatic by age 2 years.
(enlarged capillaries of face and
skin), B and T-Cell deficiencies,
IgA deficiency.
Ch diak-Higashi Syndrome Immune
deficiency
Phagocyte
Deficiency
Defect in polymerization of
microtubules in neutrophils ------>
failure in neutrophil migration and
phagocytosis. Also results in
failure in lysosomal function in
neutrophils.
Recurrent pyogenic infections,
Staphylococcus, Streptococcus.
Chronic Granulomatous
Disease
Immune
deficiency
Phagocyte
Deficiency
X-Linked (usually) NADPH
Oxidase deficiency ------> no
formation of peroxides and
superoxides ------> no oxidative
burst in phagocytes.
Failure of phagocytes leads to
susceptibility to infections, especially
Staph Aureus and Aspergillus spp. B
and T cells usually remain normal.
Chronic Mucocutaneous
Candidiasis
Immune
deficiency
T-Cell
Deficiency
T-Cell deficiency specific to
Candida.
Selective recurrent Candida
infections. Treat with anti-fungal
drugs.
Job's Syndrome Immune
deficiency
Phagocyte
Deficiency
A failure to produce gamma-
Interferon by T-Helper cells,
leading to an increase in TH2 cells
(no negative feedback) ------>
excessively high levels of IgE.
High histamine levels, eosinophilia.
Recurrent cold (non-inflammatory)
Staphylococcal abscesses (resulting
from high histamine), eczema.
Selective IgA Deficiency Immune
deficiency
B-Cell
Deficiency
IgA deficiency may be due to a
failure of heavy-chain gene
switching.
The most common congenital
immune deficiency. There also exists
selective IgM and IgG deficiencies,
but they are less common.
Severe Combined
Immunodeficiency (SCID)
Immune
deficiency
Combined
Deficiency
Autosomal Recessive. Adenosine
Deaminase deficiency ------>
accumulation of dATP ------>
inhibit ribonucleotide reductase ---
---> decrease in DNA precursors
Severe deficiency in both humoral
and cellular immunity, due to
Milton Wolf Page 15 of 9 10/16/10
impaired DNA synthesis. Bone
marrow transplant may be helpful in
treatment.
Thymic Aplasia (DiGeorge
Syndrome)
Immune
deficiency
T-Cell
Deficiency
Failure of development of the 3rd
and 4th Pharyngeal Pouches ------
> agenesis of the thymus and
parathyroid glands.
T-Cell deficiency from no thymus.
Hypocalcemic tetany from primary
parathyroid deficiency.
Wiskott-Aldrich Syndrome Immune
deficiency
Inability to mount initial IgM
response to the capsular
In infancy, recurrent pyogenic
infections, eczema,
Combined
Deficiency
polysaccharides of pyogenic
bacteria.
thrombocytopenia, excessive
bleeding. IgG levels remain normal.
X-Linked Agammaglobulinemia
(Bruton's Disease)
Immune
deficiency
B-Cell
Deficiency
X-Linked. Mutation in gene coding
for tyrosine kinase causes failure
of Pre-B cells to differentiate into
B-Cells.
Recurrent pyogenic infections after 6
months (when maternal antibodies
wear off). Can treat with polyspecific
gamma globulin preparations.
Fabry's Disease Lysosomal
Storage
Disease
X-Linked Recessive. alpha-
Galactosidase A deficiency ------>
buildup of ceramide trihexoside
in body tissues.
Angiokeratomas (skin lesions) over
lower trunk, fever, severe burning
pain in extremities, cardiovascular
and cerebrovascular involvement.
Gaucher's Disease Lysosomal
Storage
Disease
Autosomal Recessive.
Glucocerebrosidase deficiency ---
---> accumulation of
glucocerebrosides (gangliosides,
sphingolipids) in lysosomes
throughout the body.
• Type-I: Adult form. 80% of
cases, retain partial activity.
Hepatosplenomegaly,
erosion of femoral head,
mild anemia. Normal
lifespan with treatment.
• Type-II: Infantile form.
Severe CNS involvement.
Death before age 1.
• Type-III: Juvenile form.
Onset in early childhood,
involving both CNS and
viscera, but less severe than
Type II.
Niemann-Pick Lipidosis Lysosomal
Storage
Disease
Autosomal Recessive.
Sphingomyelinase deficiency -----
-> accumulation of sphingomyelin
in phagocytes.
Sphingomyelin-containing foamy
histiocytes in reticuloendo-thelial
system and spleen.
Hepatosplenomegaly, anemia, fever,
sometimes CNS deterioration. Death
by age 3.
Hunter's Syndrome Lysosomal
Storage
Disease
X-Linked Recessive. Liduronosulfate
sulfatase
deficiency ------> buildup of
mucopolysaccharides (heparan
sulfate and dermatan sulfate)
Similar to but less severe than Hurler
Syndrome. Hepatosplenomegaly,
micrognathia, retinal degeneration,
joint stiffness, mild retardation,
cardiac lesions.
Hurler's Syndrome Lysosomal
Storage
Disease
Autosomal Recessive. alpha-Liduronidase
deficiency ------>
accumulation of
mucopolysaccharides (heparan
sulfate, dermatan sulfate) in heart,
brain, liver, other organs.
Gargoyle-like facies, progressive
Milton Wolf Page 17 of 9 10/16/10
mental deterioration, stubby fingers,
death by age 10. Similar to Hunter's
Syndrome.
Tay-Sachs Disease Lysosomal
Storage
Disease
Autosomal Recessive.
Hexosaminidase A deficiency ----
--> accumulation of GM2
ganglioside in neurons.
CNS degeneration, retardation,
cherry red-spot of macula,
blindness (amaurosis). Death before
age 4.
Albinism Nitrogen
Metabolism
Defect
Autosomal Recessive. Tyrosinase
deficiency ------> inability to
synthesize melanin from tyrosine.
Can result from a lack of migration
of neural crest cells.
Depigmentation, pink eyes, increased
risk of skin cancer.
Alkaptonuria Nitrogen
Metabolism
Defect
Autosomal Recessive.
Homogentisic Oxidase deficiency
(inability to metabolize Phe and
Tyr) ------> buildup and urinary
excretion of homogentisic acid.
Urine turns dark and black on
standing, ochronosis (dark
pigmentation of fibrous and cartilage
tissues), ochronotic arthritis, cardiac
valve involvement. Disease is
generally benign.
Homocystinuria Nitrogen
Metabolism
Defect
Autosomal Recessive.
Cystathionine synthase defect
(either deficiency, or lost affinity
for pyridoxine, Vit. B6) ------>
buildup of homocystine and
deficiency of cysteine.
Mental retardation, ectopia lentis,
sparse blond hair, genu valgum,
failure to thrive, thromboembolic
episodes, fatty changes of liver.
Treatment: Cysteine
supplementation, give excess
pyridoxine to compensate for lost
pyridoxine affinity.
Lesch-Nyhan Syndrome Nitrogen
Metabolism
Defect
X-Linked Recessive.
Hypoxanthine-Guanine
Phosphoribosyltransferase
(HGPRT) deficiency ------> no
salvage pathway for purine resynthesis
------> buildup of purine
metabolites
Hyperuricemia (gout), mental
retardation, self-mutilation (autistic
behavior), choreoathetosis, spasticity.
Maple Syrup Urine Disease Nitrogen
Metabolism
Defect
Autosomal Recessive. Deficiency
of branched chain keto-acid
decarboxylase ------> no
degradation of branched-chain
amino acids ------> buildup of
isoleucine, valine, leucine.
Severe CNS defects, mental
retardation, death. Person smells like
maple syrup or burnt sugar.
Treatment: remove the amino acids
from diet.
Phenylketonuria (PKU) Nitrogen
Metabolism
Defect
Autosomal Recessive.
Phenylalanine hydroxylase
deficiency (cannot break down Phe
nor make Tyr) ------> buildup of
phenylalanine, phenyl ketones
(phenylacetate, phenyl lactate,
phenylpyruvate) in body tissues
and CNS.
Symptoms result from accumulation
of phenylalanine itself. Mental
deterioration, hypopigmentation
(blond hair and blue eyes), mousy
body odor (from phenylacetic acid in
urine and sweat).
Treatment: remove phenylalanine
from diet.
Glucose-6-Phosphate
Dehydrogenase (G6PD)
Deficiency
RBC Disease X-Linked Recessive. Glucose-6-
Phosphate Dehydrogenase
(G6PD) deficiency ------> no
hexose monophosphate shunt ------
> deficiency in NADPH ------>
inability to maintain glutathione in
reduced form, in RBC's
Susceptibility to oxidative damage to
Milton Wolf Page 19 of 9 10/16/10
RBC's, leading to hemolytic anemia.
Can be elicited by drugs
(primaquine, sulfonamides, aspirin),
fava beans (favism). More prevalent
in blacks.
Glycolytic enzyme deficiencies RBC Disease Autosomal Recessive. Defect in
hexokinase, glucose-phosphate
isomerase, aldolase, triosephosphate
isomerase, phosphateglycerate
kinase, or enolase. Any
enzyme in glycolysis pathway.
Hemolytic anemia results from any
defect in the glycolysis pathway, as
RBC's depend on glycolysis for
energy.
Autosomal Recessive Polycystic
Kidney Disease (ARPKD)
Renal Autosomal Recessive. Numerous, diffuse bilateral cysts
formed in the collecting ducts.
Associated with hepatic fibrosis.
Bartter's Syndrome Renal Juxtaglomerular Cell Hyperplasia,
leading to primary hyperreninemia.
Elevated renin and aldosterone,
hypokalemic alkalosis. No
hypertension.
Fanconi's Syndrome Type I
(Child-onset cystinosis)
Renal Autosomal Recessive. Deficient
resorption in proximal tubules.
(1) Cystine deposition throughout
body, cystinuria. (2) Defective
tubular resorption leads to aminoaciduria,
polyuria, glycosuria,
chronic acidosis;
Hypophosphatemia and Vitamin-
D-resistant Rickets.
Fanconi's Syndrome II
(Adult-onset)
Renal Autosomal Recessive. Defective
resorption in proximal tubules.
Similar to Fanconi Syndrome Type I,
but without the cystinosis. Adult
onset osteomalacia, amino-aciduria,
polyuria, glycosuria.
Autosomal Dominant Polycystic
Kidney Disease (ADPKD)
Renal
Autosomal
Dominant
Disorders
Autosomal Dominant. Numerous, disparate, heterogenous
renal cysts occurring bilaterally.
Onset in adult life. Associated with
liver cysts.

TRIADS
Triad of Alports Syndrome
Sensorineural deafness
Progressive renal failure
Ocular anomalies
Triad of Behcet's Syndrome
Recurrent oral ulcers
Genital ulcers
Iridocyclitis
Beck’s Triad
Muffled heart sound
Distended neck veins
Hypotension
Charcot’s Triad
Pain + fever + jaundice
Gradenigos Triad
Sixth cranial n. Palsy
Persistent ear discharge
Deep seated retro orbital pain
Triad of Hypernephroma
Pain + hematuria + renal mass
Cushing Triad of Increased Intracranial
Pressure
Bradycardia
Bradypnea
Hypertension
Hemobilia - Triad (Triad of Sandblom)
Malena
Obstructive jaundice
Biliary colic
Kartagener’s Syndrome Triad
Triad of bronchiectasis
Recurrent sinusitis, and
Situs inversus
O’ Donoghue Triad
Twisting force in a weight bearing knee joint
causes injury to
1. Medial collateral ligament
2. Anterior cruciate ligament
Hemolytic Uremic Syndrome Triad
Anaemia
Thrombocytopenia
Renal failure
Fanconi Syndrome Triad
Aminoaciduria
Proteinuria
Phosphaturia
Tetany in Children - Triad
Stridor
Carpopedal spasm
Convulsions
Alkaptonuria Triad
Ochronotic arthritis
Ochronotic pigmentation
Urine darkens on standing
Anderson Triad
Bronchiectasis
Cystic fibrosis
Vitamin A deficiency
Milton Wolf Page 21 of 9 10/16/10
Triad of Albinism
Black locks
Occulo-cutaneous Albinism
Deafness of sensorineural type
Pentad of TTP
Microangiopathic haemolytic anaemia
Fever
Disturbed neurological function
Renal failure
Thrombocytopenia
Triad of Causes of Biotin Deficiency
Glossitis,
Alopecia,
Dermatitis
Reynolds Pentad
Abdominal pain,
Fever,
Jaundice,
Shock, and
Depression of central nervous system function
3. Medial meniscus
Congestive Heart Failure Triad
Tachycardia
Tachypnea
Tender hepatomegaly
(usually indicative of acute suppurative cholangitis)
Pentalogy of Fallot
Fallot's tetralogy with, in addition, a patent foramen ovale or
Atrial septal defect.
Triple Test
Estimation of hcg,
Estriol,
and AFP
(for diagnosis of downs syndrome)
1. TRIAD OF ALPORTS SYNDROME--SENSORINEURAL DEAFNESS
PROGRESSIVE RENAL FAILURE
OCULAR ANOMALIES
TRIAD OF BEHCET'S SYND. ---RECURRENT ORAL ULCERS
GENITAL ULCERS
IRIDOCYCLITIS
BECK'S TRIAD ----MUFFLED HEART SOUND
DISTENDED NECK VEINS
HYPOTENSION
8) CHARCOT'S TRIAD ----PAIN+FEVER+JAUNDICE
GRADENIGOS TRIAD -----SIXTH CRANIAL N. PALSY
PERSISTANT EAR DISCHARGE
DEEP SEATED RETRO ORBITAL PAIN
TRIAD OF HYPERNEPHROMA --------PAIN+HEMATURIA+RENAL MASS
8) HUTCHINSON'S TRIAD --------HUTCHISON'S TEETH
INTERSTITIAL KERATITIS
NERVE DEAFNESS
TRIAD OF KWASHIORKAR ---GROWTH RETARDATION
MENTAL CHANGES
EDEMA
SAINT'S TRIAD ------ GALL STONES
DIVERTICULOSIS
HIATUS HERNIA
TROTTER'S TRIAD 8) -----CONDUCTIVE DEAFNESS
IMMOBILITY OF HOMOLATERAL SOFT PALATE
TRIGEMINAL NEURALGIA
VIRCHOWS TRIAD ------------STASIS+HYPERCOAGULABILTY+VESSEL
INJURY
WHIPPLES TRIAD -----------HYPOGLYCAEMIA DURING ATTACKS
S.GLUCOSE <40 MG%
PROMPT RELIEF ON GLUCOSE ADMINISTRATION
2. rubella...pda , deafness cataract
3. SAMPTER'S TRIAD- ASPIRIN, BRONCHIAL ASTHMA. NASAL POLYP
4. TRIAD OF NORMAL PRESSURE HYDROCEPHALUS
DEMENTIA
URINARY INCONTINENCE
ATAXIA/GAIT APRAXIA
5. Grancher's triad, lessened vesicular quality of breathing, skodaic resonance, and increased
vocal fremitus; seen in early pulmonary tuberculosis.
triad of Luciani, asthenia, atonia, and astasia, the three major symptoms of cerebellar disease.
Osler's triad, the telangiectasis, capillary fragility, and hereditary hemorrhagic diathesis seen
in hereditary hemorrhagic telangiectasia.
triad of Schultz, jaundice, gangrenous stomatitis, and leukopenia.
6. BARTTERS SYNDROME--METABOLIC ALKALOSIS
HYPOKALEMIA
NORMAL OR DECREASED BP
WEIL'S DISEASE--------HEPATORENAL DAMAGE
BLEEDING DIATHESIS
PYREXIA
BRONCHOPULMONARY ASPERGILLOSIS---
BRONCHOSPASM
HEMOPTYSIS
BRONCHIECTESIS
MINNER'S DISEASE-- VERTIGO
TINNITUS
SENSORINEURAL HEARING LOSS
MELKERSON ROSENTHAL SYNDROME--
RECURRENT FACIAL PALSY
PLICATION OF TONGUE
FACIAL EDEMA
7. ROKYTANSKY KUSTER HAUSER SYNDROME
ABSENT VAGINA
NON FUNCTIONAL UTERUS
NORMAL XX FEMALE
8. There are three charcots triads
1.In werenicks encephalopathy:GOA:global confusion ,ataxia,ophthalmoplegia
2.SIN:scanning speech,intentional tremors,nystagmus
3.JPF:jaundice,pain ,fever
9. tried of fat embolism---
a)petechial hemorhages over chest
b)moderate rise in temperature
c)fall of hematocrit
the triad of fat embolism is a/k/a BERGMANN'S triad
10. Waddell's triad - Waddell's triad is the classic injury that occurrs as a result of a child
pedestrian being struck by a car. The child sustains initial impact injuries to the
thorax and femur; the child is then thrown, striking his head and suffering a closed
head injury on the contralateral side.
Milton Wolf Page 23 of 9 10/16/10
11. Lover's Triad--calcaneal fracture,lumbar compression # and forearm #
12. adrenomedullary triad
the symptoms caused by excessive amounts of adrenomedullary catecholamines:
tachycardia, vasoconstriction, and sweating.
Beck's triad
three symptoms characteristic of cardiac compression: (1) a high venous pressure, (2) a low
arterial pressure, and (3) a small quiet heart.
Bezold's triad
prolonged bone conduction (negative Rinne test) and lessened perception of low tones,
indicating otosclerosis.
Charcot's triad
1. nystagmus, intention tremor, and staccato speech, formerly thought to be a sign of multiple
sclerosis. 2. the symptom complex of biliary colic, jaundice, and fever and chills
characteristic of intermittent cholangitis.
Currarino's triad
a complex of congenital anomalies in the anococcygeal region, in various combinations and
degrees of seriousness; it consists of scimitar sacrum; presacral anterior meningocele,
teratoma, or cyst; and rectal malformations such as stenosis, ectopia, or imperforation.
Dieulafoy's triad
hypersensitiveness of the skin, reflex muscular contraction, and tenderness at McBurney's
point in appendicitis.
Grancher's triad
lessened vesicular quality of breathing, skodaic resonance, and increased vocal fremitus;
seen in early pulmonary tuberculosis.
Hepatic triads
the grouping of the tributaries of the hepatic artery, vein, and bile duct at the angles of the
lobules of the liver.
Hutchinson's triad
diffuse interstitial keratitis, labyrinthine disease, and Hutchinson teeth, seen in inherited
syphilis.
triad of Luciani
asthenia, atonia, and astasia, the three major symptoms of cerebellar disease.
Osler's triad
the telangiectasis, capillary fragility, and hereditary hemorrhagic diathesis seen in hereditary
hemorrhagic telangiectasia.
triad of retinal cone
the tip of two horizontal cell dendrites and one midget cell dendrite, enclosed in a synaptic
invagination of a retinal cone pedicle.
Saint's triad
hiatus hernia, colonic diverticula, and cholelithiasis, occurring concomitantly.
triad of Schultz
jaundice, gangrenous stomatitis, and leukopenia.
triad of skeletal muscle
a pair of terminal cisterns in close apposition to the T tubule, running transversely across a
myofibril of skeletal muscle; in mammalian muscle there are two triads to each sarcomere,
situated at the A band–I band junction. See also T system, under system and T tubule, under
tubule.
Virchow's triad
three factors predisposing to vascular thrombosis: changes in the vascular wall, changes in
the local pattern of blood flow, and changes in the blood constituents.
Whipple's triad
three essential clinical features of insulin-producing tumors: (1) spontaneous hypoglycemia
with blood sugar levels below 50 mg per 100 mL; (2) central nervous system or vasomotor
symptoms; and (3) relief of symptoms by oral or intravenous administration of glucose.
13. Raynaud's Pentad:
* Charcot's triad plus
* Sepsis
* Mental status changes
14. Westermark's triad of radiological signs is classically present in cases of pulmonary
embolism.
The appearances are often very subtle, but in the presence of an abnormal perfusion scan
Westermark's triad confirms the diagnosis of pulmonary embolus.
The triad comprises:
* vessel cut-off
* oligaemic areas of lung field
* shunting of blood
15. Samster's triad
This refers to the clinical syndrome of asthma, aspirin sensitivity and nasal polyps.
This triad occurs in up to 8% of patients with nasal polyps.
16. Garland's triad
This is the presence of bilateral hilar lymphadenopathy and right paratracheal
lymphadenopathy seen on a chest radiograph. These features may be seen in thoracic
sarcoidosis.
17. BOCHDALECK'S HERNIA TRIAD-RESPIRATORY DISTRESS
APPARENT DEXTROCARDIA
SCAPHOID ABDOMEN
[color=dark red]PAROXYSMAL NOCTURNAL HEMOGLOBINURIA[/color]
HEMOLYTIC ANAEMIA
VENOUS THROMBOSIS
DEFICIENT HEMOPOESIS
18. MULTIPLE MYELOMA
PLASMACYTOSIS >10%
HYPERGAMMAGLOBULINEMIA
LYTIC BONE LESIONS
HEMOLYTIC UREMIC SYNDROME
ANAEMIA
THROMBOCYTOPENIA RENAL FAILURE
19. #ANDERSON TRIAD-BRONCHIECTASIS+CYSTIC FIBROSIS+VIT A DEF.
#BADS triad of albinism-Black locks+occulo-cut.Albinism+Deafness of Sensorineural
typepentad of ttpmicroangiopathic
haemolytic anaemia
fever
disturbed neurological function
renal failure
thrombocytopenia
20. Reynolds pentad----->
abdominal pain, fever, jaundice, shock, and depression of central nervous system function;
usually indicative of acute suppurative cholangitis.
pentalogy of Fallot----->
Fallot's tetralogy with, in addition, a patent foramen ovale or atrial septal defect.
21. Vogt's triad in TS- epilepsy, MR and adenoma sebaceum
22. Triad of symptoms in urethral diverticulum:
Dribbling of urine after voiding
Dysuria
Dyspareunia
23. Wessel's rule of Threes:
Used for clinical doagnosis of Colics in infants. It consists of
infant with abdominal pain who is :
-crying for >3 hrs./day
-crying for >3 days?week
Milton Wolf Page 25 of 9 10/16/10
-crying for >3 weeks.
24. Murphy's triad: I wonder why this common & simlple triad is not in the long long list of
triads.
It is seen in Acute Appendicitis
It consists of Pain, Fever & Vomitting.
25. Sim's triad: A triad of Sim's position, Sim's speculum & Sim's operation.
Carney's triad: A non-familial association of Functioning paraganglioma, Gastric
leiomyosarcoma & Pulmonary chondroma, usually occurs in young women.
26.
fallots triat mass d ...asd , pulmonary stenosis ,right ventricular hypertrophy
riad of renal cell ca 1.hematuria 2. flank pain3.flank
n multiple slerosis nystsagmus intention tremor and scaning speech
Beck's Triad for Renal Cell Carcinoma:
1) Haematuria
2) Flank pain
3) Palpable abdominal mass
Triad of Grawitz Tumour(Hypernephroma):Hematuria ,Pain,Palpable renal tumor
Murphy’s Triad (Acute appendicitis):Pain,Vomiting ,Fever
GRADENIGO'S SYNDROME TRIAD--
MASTOIDITIS
PAIN IN THE RETRO-ORBITAL AND DEEP TEMPORAL REGION
6TH NERVE PALSY
Hand schuller christian triad:
diabetes insipidus,proptosis,calvarial bone defects
HUS is more classically called a pentad..
1)microangiopathic hemolytic anemia
2)acute renal failure
3)thrombocytopenia
4)fever
5)hypertension
Also,
pentad of TTP:-
5)neurological symptoms (instead of HTN)---d/d btn HUS & TTP
reiter's syndrome:arthritis,urethritis,conjunctivitis.
heerfordt syndrome:uveitis,fever,parotid enlargement.
vanderhove syndrome:blue sclera,multiple fractures,otosclerosis
Triple test is -
estimation of HCG,
estriol,
and AFP.
for diagonosis of downs syndrome.
what is quadruple test??
if to triple we add the estmation of inhibin!= quadruple test!
Waddell's triad - Waddell's triad is the classic injury that occurrs as a result of a child
pedestrian being struck by a car. The child sustains initial impact injuries to the
thorax and femur; the child is then thrown, striking his head and suffering a closed
head injury on the contralateral side.
Aponyms:
Addison’s Disease  primary adrenocortical deficiency

Addisonian Anemia  pernicious anemia (antibodies to intrinsic factor or parietal

cells  IF  Vit B12  megaloblastic anemia)

Albright’s Syndrome  polyostotic fibrous dysplasia, precocious puberty, café au lait

spots, short stature, young girls

Alport’s Syndrome  hereditary nephritis with nerve deafness

Alzheimer’s  progressive dementia

Argyll-Robertson Pupil  loss of light reflex constriction (contralateral or bilateral)

 “Prostitute’s Eye” - accommodates but does not react
 Pathognomonic for 3 Syphilis

Arnold-Chiari Malformation  cerebellar tonsil herniation

Barrett’s  columnar metaplasia of lower esophagus ( risk of

adenocarcinoma)

Bartter’s Syndrome  hyperreninemia

Becker’s Muscular  similar to Duchenne, but less severe (deficiency in dystrophin

Dystrophy protein)

Bell’s Palsy  CNVII palsy (entire face; recall that UMN lesion only affects
lower face)

Berger’s Disease  IgA nephropathy

Bernard-Soulier Disease  defect in platelet adhesion (abnormally large platelets & lack
of platelet-surface glycoprotein)

Berry Aneurysm  circle of Willis (subarachnoid bleed)

 often associated with ADPKD

Bowen’s Disease  carcinoma in situ on shaft of penis ( risk of visceral ca)

Briquet’s Syndrome  somatization disorder

 psychological: multiple physical complaints without physical
pathology

Broca’s Aphasia  Motor Aphasia intact comprehension

Milton Wolf Page 27 of 9 10/16/10

Brown-Sequard  hemisection of cord (contralateral loss of pain & temp /
ipsilateral loss of fine touch, UMN)

Bruton’s Disease  X-linked agammaglobinemia

Budd-Chiari  post-hepatic venous thrombosis

Buerger’s Disease  acute inflammation of small, medium arteries → painful

ischemia → gangrene

Burkitt’s Lymphoma  small noncleaved cell lymphoma EBV

 8:14 translocation

Caisson Disease  gas emboli

Chagas’ Disease  Trypansoma infection sleeping disease, cardiomegaly with

apical atrophy, achlasia

Chediak-Higashi Disease  Phagocyte Deficiency: neutropenia, albinism, cranial &

peripheral neuropathy
 repeated infections

Conn’s Syndrome  primary aldosteronism

Cori’s Disease  glycogen storage disease (debranching enzyme deficiency)

Creutzfeldt-Jakob  prion infection → cerebellar & cerebral degeneration

Crigler-Najjar Syndrome  congenital hyperbilirubinemia (unconjugated)

 glucuronyl transferase deficiency

Crohn’s  IBD; ileocecum, transmural, skip lesions, lymphocytic

infiltrate, granulomas
(contrast to UC: limited to colon, mucosa & submucosa, crypt
abscesses, pseudopolyps, colon cancer risk)

Curling’s Ulcer  acute gastric ulcer associated with severe burns

Cushing’s  Disease: hypercorticism 2° to ACTH from pituitary (basophilic

adenoma)
 Syndrome: hypercorticism of all other causes (1° adrenal or
ectopic)

Cushing’s Ulcer  acute gastric ulcer associated with CNS trauma

de Quervain’s Thyroiditis  self-limiting focal destruction (subacute thyroiditis)

DiGeorge’s Syndrome  thymic hypoplasia → T-cell deficiency

 hypoparathyroidism

Down’s Syndrome  trisomy 21 or translocation

Dressler’s Syndrome  Post-MI Fibrinous Pericarditis autoimmune

Dubin-Johnson Syndrome  congenital hyperbilirubinemia (conjugated)

  striking brown-to-black discoloration of the liver

Duchenne Muscular  deficiency of dystrophin protein → MD X-linked recessive

Dystrophy
Edwards’ Syndrome  trisomy 18
 rocker-bottom feet, low ears, heart disease

Ehler’s-Danlos  defective collagen

Eisenmenger’s Complex  late cyanotic shunt (RL) pulmonary HTN & RVH 2 to long-
standing VSD, ASD, or PDA

Erb-Duchenne Palsy  trauma to superior trunk of brachial plexus Waiter’s Tip

Ewing Sarcoma  undifferentiated round cell tumor of bone

Eyrthroplasia of Queyrat  carcinoma in situ on glans penis

Fanconi’s Syndrome  impaired proximal tubular reabsorption 2° to lead poisoning or

Tetracycline (glycosuria, hyperphosphaturia, aminoaciduria,
systemic acidosis)

Felty’s Syndrome  rheumatoid arthritis, neutropenia, splenomegaly

Gardner’s Syndrome  adenomatous polyps of colon plus osteomas & soft tissue
tumors

Gaucher’s Disease  Lysosomal Storage Disease glucocerebrosidase deficiency

 hepatosplenomegaly, femoral head & long bone erosion,
anemia

Gilbert’s Syndrome  benign congenital hyperbilirubinemia (unconjugated)

Glanzmann's  defective glycoproteins on platelets

Thrombasthenia
Goodpasture’s  autoimmune: ab’s to glomerular & alveolar basement
membranes

Grave’s Disease  autoimmune hyperthyroidism (TSI)

Guillain-Barre  idiopathic polyneuritis (ascending muscle weakness &

paralysis; usually self-limiting)

Hamman-Rich Syndrome  idiopathic pulmonary fibrosis

Hand-Schuller-Christian  chronic progressive histiocytosis

Hashimoto’s Thyroiditis  autoimmune hypothyroidism

Hashitoxicosis  initial hyperthyroidism in Hashimoto’s Thyroiditis that

precedes hypothyroidism

Henoch-Schonlein purpura  hypersensivity vasculitis

 hemmorhagic urticaria (with fever, arthralgias, GI & renal

Milton Wolf Page 29 of 9 10/16/10

 involvement)
 associated with upper respiratory infections

Hirschprung’s Disease  aganglionic megacolon

Horner’s Syndrome  ptosis, miosis, anhidrosis (lesion of cervical sympathetic

nerves often 2° to a Pancoast tumor)

Huntington’s  progressive degeneration of caudate nucleus, putamen &

frontal cortex; AD

Jacksonian Seizures  epileptic events originating in the primary motor cortex (area
4)

Job’s Syndrome  immune deficiency: neutrophils fail to respond to

chemotactic stimuli

Kaposi Sarcoma  malignant vascular tumor (HHV8 in homosexual men)

Kartagener’s Syndrome  immotile cilia 2 to defective dynein arms infection, situs

inversus, sterility

Kawasaki Disease  mucocutaneous lymph node syndrome (lips, oral mucosa)

Klinefelter’s Syndrome  47, XXY

Kluver-Bucy  bilateral lesions of amygdala (hypersexuality; oral behavior)

Krukenberg Tumor  adenocarcinoma with signet-ring cells (typically originating

from the stomach) metastases to the ovaries

Laennec’s Cirrhosis  alcoholic cirrhosis

Lesch-Nyhan  HGPRT deficiency

 gout, retardation, self-mutilation

Letterer-Siwe  acute disseminated Langerhans’ cell histiocytosis

Libman-Sacks  endocarditis with small vegetations on valve leaflets

 associated with SLE

Lou Gehrig’s  Amyotrophic Lateral Sclerosis degeneration of upper &

lower motor neurons

Mallory-Weis Syndrome  bleeding from esophagogastric lacerations 2° to wretching

(alcoholics)

Marfan’s  connective tissue defect

McArdle’s Disease  glycogen storage disease (muscle phosphorylase deficiency)

Meckel’s Diverticulum  rule of 2’s: 2 inches long, 2 feet from the ileocecum, in 2% of
the population
 embryonic duct origin; may contain ectopic tissue (gastric,
 pancreatic, etc.)

Meig’s Syndrome  Triad: ovarian fibroma, ascites, hydrothorax

Menetrier’s Disease  giant hypertrophic gastritis (enlarged rugae; plasma protein

loss)

Monckeberg’s  calcification of the media (usually radial & ulnar aa.)

Arteriosclerosis
Munchausen Syndrome  factitious disorder (consciously creates symptoms, but
doesn’t know why)

Nelson’s Syndrome  1° Adrenal Cushings → surgical removal of adrenals → loss of

negative feedback to pituitary → Pituitary Adenoma

Niemann-Pick  Lysosomal Storage Disease sphingomyelinase deficiency

 “foamy histiocytes”

Osler-Weber-Rendu  Hereditary Hemorrhagic Telangiectasia

Syndrome
Paget’s Disease  abnormal bone architecture (thickened, numerous fractures →

pain)

Pancoast Tumor  bronchogenic tumor with superior sulcus involvement →

Horner’s Syndrome

Parkinson’s  dopamine depletion in nigrostriatal tracts

Peutz-Jegher’s Syndrome  melanin pigmentation of lips, mouth, hand, genitalia plus

hamartomatous polyps of small intestine

Peyronie’s Disease  subcutaneous fibrosis of dorsum of penis

Pick’s Disease  progressive dementia similar to Alzheimer’s

Plummer’s Syndrome  hyperthyroidism, nodular goiter, absence of eye signs

(Plummer’s = Grave’s - eye signs)

Plummer-Vinson  esophageal webs & iron-deficiency anemia,  SCCA of

esophagus

Pompe’s Disease  glycogen storage disease → cardiomegaly

Pott’s Disease  tuberculous osteomyelitis of the vertebrae

Potter’s Complex  renal agenesis → oligohydramnios → hypoplastic lungs,

defects in extremities

Raynaud’s  Disease: recurrent vasospasm in extremities

 Phenomenon: 2° to underlying disease (SLE or scleroderma)

Reiter’s Syndrome  urethritis, conjunctivitis, arthritis non-infectious (but often

follows infections), HLA-B27, polyarticular

Milton Wolf Page 31 of 9 10/16/10

Reye’s Syndrome  microvesicular fatty liver change & encephalopathy
 2° to aspirin ingestion in children following viral illness

Riedel’s Thyroiditis  idiopathic fibrous replacement of thyroid

Rotor Syndrome  congenital hyperbilirubinemia (conjugated)

 similar to Dubin-Johnson, but no discoloration of the liver

Sezary Syndrome  leukemic form of cutaneous T-cell lymphoma (mycosis

fungoides)

Shaver’s Disease  aluminum inhalation  lung fibrosis

Sheehan’s Syndrome  postpartum pituitary necrosis

Shy-Drager  parkinsonism with autonomic dysfunction & orthostatic

hypotension

Simmond’s Disease  pituitary cachexia

Sipple’s Syndrome  MEN type IIa (pheochromocytoma, thyroid medulla,

parathyroid)

Sjogren’s Syndrome  triad: dry eyes, dry mouth, arthritis  risk of B-cell
lymphoma

Spitz Nevus  juvenile melanoma (always benign)

Stein-Leventhal  polycystic ovary

Stevens-Johnson  erythema multiforme, fever, malaise, mucosal ulceration

Syndrome (often 2 to infection or sulfa drugs)

Still’s Disease  juvenile rheumatoid arthritis (absence of rheumatoid factor)

Takayasu’s arteritis  aortic arch syndrome

 loss of carotid, radial or ulnar pulses

Tay-Sachs  gangliosidosis (hexosaminidase A deficiency → GM2

ganglioside)

Tetralogy of Fallot  ÊVSD, Ëoverriding aorta, Ìpulmonary artery stenosis, Íright

ventricular hypertrophy

Tourette’s Syndrome  involuntary actions, both motor and vocal

Turcot’s Syndrome  adenomatous polyps of colon plus CNS tumors

Turner’s Syndrome  45, XO

Vincent’s Infection  “trench mouth” - acute necrotizing ulcerative gingivitis

von Gierke’s Disease  glycogen storage disease (G6Pase deficiency)

von Hippel-Lindau  hemangioma (or hemangioblastoma)

  adenomas of the viscera, especially renal cell carcinoma

von Recklinghausen’s  neurofibromatosis & café au lait spots

von Recklinghausen’s  osteitis fibrosa cystica (“brown tumor”) 2° to

Disease of Bone hyperparathyroidism

von Willebrand’s Disease  defect in platelet adhesion 2° to deficiency in vWF

Waldenstrom’s  proliferation of IgM-producing lymphoid cells

macroglobinemia
Wallenberg’s Syndrome  Posterior Inferior Cerebellar Artery (PICA) thrombosis
“Medullary Syndrome”
 Ipsilateral: ataxia, facial pain & temp; Contralateral: body pain
& temp

Waterhouse-Friderichsen  catastrophic adrenal insufficiency 2° to hemorrhagic necrosis

(eg, DIC)
 often 2° to meningiococcemia

Weber’s Syndrome  Paramedian Infarct of Midbrain

 Ipsilateral: mydriasis; Contralateral: UMN paralysis (lower face
& body)

Wegener’s Granulomatosis  necrotizing granulomatous vasculitis of paranasal sinuses,

lungs, kidneys, etc.

Weil’s Disease  leptospirosis

Wermer’s Syndrome  MEN type I (thyroid, parathyroid, adrenal cortex, pancreatic

islets, pituitary)

Wernicke’s Aphasia  Sensory Aphasia impaired comprehension

Wernicke-Korsakoff  thiamine deficiency in alcoholics; bilateral mamillary bodies

Syndrome (confusion, ataxia, ophthalmoplegia)

Whipple’s Disease  malabsorption syndrome (with bacteria-laden macrophages)

& polyarthritis

Wilson’s Disease  hepatolenticular degeneration (copper accumulation &

decrease in ceruloplasmin)

Wiskott-Aldrich Syndrome  immunodeficiency: combined B- &T-cell deficiency

(thrombocytopenia & eczema)

Wolff-Chaikoff Effect  high iodine level (−)’s thyroid hormone synthesis

Zenker’s Diverticulum  esophageal; cricopharyngeal muscles above UES

Zollinger-Ellison  gastrin-secreting tumor of pancreas (or intestine) → acid →

intractable ulcers

Milton Wolf Page 33 of 9 10/16/10

Hallmark Findings
Albumino-Cytologic  Guillain-Barre (markedly increased protein in CSF with only
Dissociation modest increase in cell count)

Antiplatelet Antibodies  idiopathic thrombocytopenic purpura

Arachnodactyly  Marfan’s

Aschoff Bodies  rheumatic fever

Auer Rods  acute promyelocytic leukemia (AML type M3)

Autosplenectomy  sickle cell anemia

Babinski  UMN lesion

Basophilic Stippling of  lead poisoning

RBCs
Bence Jones Protein  multiple myeloma free light chains (either kappa or lambda)
 Waldenstrom’s macroglobinemia

Birbeck Granules  histiocytosis X (eosinophilic granuloma)

Blue Bloater  Chronic Bronchitis

Boot-Shaped Heart  Tetralogy of Fallot

Bouchard’s Nodes  osteoarthritis (PIP)

Boutonniere’s Deformity  rheumatoid arthritis

Brown Tumor  hyperparathyroidism

Brushfield Spots  Down’s

Call-Exner Bodies  granulosa cell tumor

Cardiomegaly with Apical  Chagas’ Disease

Atrophy
Chancre  1° Syphilis

Chancroid  Haemophilus ducreyi

Charcot Triad  multiple sclerosis (nystagmus, intention tremor, scanning

speech)

Charcot-Leyden Crystals  bronchial asthma

Cheyne-Stokes Breathing  cerebral lesion

Chocolate Cysts  endometriosis

Chvostek’s Sign  Hypocalcemia facial spasm in tetany

Clue Cells  Gardnerella vaginitis

Codman’s Triangle  osteosarcoma

Cold Agglutinins  Mycoplasma pneumoniae

 infectious mononucleosis

Condyloma Lata  2° Syphilis

 new coffee flavor at Bagel & Bagel

Cotton Wool Spots  HTN

Councilman Bodies  dying hepatocytes

Crescents In Bowman’s  rapidly progressive (crescentic glomerulonephritis)

Capsule
Currant-Jelly Sputum  Klebsiella

Curschmann’s Spirals  bronchial asthma

Depigmentation Of  Parkinson’s
Substantia Nigra
Donovan Bodies  granuloma inguinale (STD)

Eburnation  osteoarthritis (polished, ivory-like appearance of bone)

Ectopia Lentis  Marfan’s

Erythema Chronicum  Lyme Disease

Migrans
Fatty Liver  Alcoholism

Ferruginous Bodies  asbestosis

Ghon Focus / Complex  Tuberculosis (1° & 2°, respectively)

Gower’s Maneuver  Duchenne’s MD use of arms to stand

Heberden’s Nodes  Osteoarthritis (DIP)

Heinz Bodies  G6PDH Deficiency

Hemorrhagic Urticaria  Henoch-Schonlein

Heterophil Antibodies  infectious mononucleosis (EBV)

Hirano Bodies  Alzheimer’s

Hypersegmented PMNs  Megaloblastic anemia

Hypochromic Microcytic  iron-deficiency anemia

RBCs
Jarisch-Herxheimer  Syphilis over-aggressive treatment of an asymptomatic pt.
Reaction that causes symptoms 2 to rapid lysis

Joint Mice  osteoarthritis (fractured osteophytes)

Kaussmaul Breathing  acidosis

Milton Wolf Page 35 of 9 10/16/10
Keratin Pearls  SCCA

Keyser-Fleischer Ring  Wilson’s

Kimmelstiel-Wilson  diabetic nephropathy

Nodules
Koilocytes  HPV

Koplik Spots  measles

Lewy Bodies  Parkinson’s (eosinophilic inclusions in damaged substantia

nigra cells)

Lines of Zahn  arterial thrombus

Lisch Nodules  neurofibromatosis (von Recklinhausen’s disease)

Lumpy-Bumpy IF Glomeruli  poststreptococcal glomerulonephritis

McBurney’s Sign  appendicitis (McBurney’s Point is 2/3 of the way from the
umbilicus to anterior superior iliac spine)

Michealis-Gutmann Bodies  Malakoplakia

Monoclonal Antibody  multiple myeloma this is called the M protein (usually IgG or
Spike IgA)
 MGUS

Myxedema  hypothyroidism

Negri Bodies  rabies

Neuritic Plaques  Alzheimer’s

Neurofibrillary Tangles  Alzheimer’s

Non-pitting Edema  Myxedema

 Anthrax Toxin

Notching of Ribs  Coarctation of Aorta

Nutmeg Liver  CHF

Painless Jaundice  pancreatic CA (head)

Pannus  rheumatoid arthritis

Pautrier’s Microabscesses  mycosis fungoides (cutaneous T-cell lymphoma)

Philadelphia Chromosome  CML

 ALL

Pick Bodies  Pick’s Disease

Pink Puffer  Emphysema Centroacinar – smoking Panacinar - 1-
antitrypsin deficiency

Podagra  gout (MP joint of hallux)

Port-Wine Stain  Hemangioma

Posterior Anterior Drawer  tearing of the ACL

Sign
Psammoma Bodies  Papillary adenocarcinoma of the thyroid
 Serous papillary cystadenocarcinoma of the ovary
 Meningioma
 Mesothelioma

Pseudohypertrophy  Duchenne muscular dystrophy

Punched-Out Bone Lesions  multiple myeloma

Rash on Palms & Soles  2 Syphilis

 RMSF

Red Morning Urine  paroxysmal nocturnal hemoglobinuria

Reed-Sternberg Cells  Hodgkin’s Disease

Reid Index Increased  chronic bronchitis

Reinke Crystals  Leydig cell tumor

Rouleaux Formation  multiple myeloma RBC’s stacked as poker chips

S3 Heart Sound  LR Shunt (VSD, PDA)

 Mitral Regurg
 LV Failure

S4 Heart Sound  Pulmonary Stenosis

 Pulmonary HTN

Schwartzman Reaction  Neisseria meningitidis impressive rash with bugs

Simian Crease  Down’s

Smith Antigen  SLE (also anti-dsDNA)

Soap Bubble on X-Ray  giant cell tumor of bone

Spike & Dome Glomeruli  membranous glomerulonephritis

String Sign on X-ray  Crohn’s bowel wall thickening

Target Cells  Thalassemia

Tendinous Xanthomas  Familial Hypercholesterolemia

Thyroidization of Kidney  chronic pyelonephritis

Milton Wolf Page 37 of 9 10/16/10

Tophi  gout

Tram-Track Glomeruli  membranoproliferative glomerulonephritis

Trousseau’s Sign  visceral ca, classically pancreatic (migratory

thrombophlebitis)
 hypocalcemia (carpal spasm)
These are two entirely different disease processes and different
signs, but they unfortunately have the same name.

Virchow’s Node  supraclavicular node enlargement by metastatic carcinoma

of the stomach

Warthin-Finkeldey Giant  Measles

Cells
WBC Casts  pyelonephritis

Wire Loop Glomeruli  lupus nephropathy, type IV

 AFP in amniotic fluid or  Spina Bifida

mother’s serum  Anencephaly

 Uric Acid  Gout

 Lesch Nyhan
 Myeloproliferative Disorders
 Diuretics (Loop & Thiazides)

 FEV1/FVC  COPD

Most Common…
1 Tumor arising from bone in adults  Multiple Myeloma

Adrenal Medullary Tumor – Adults  Pheochromocytoma

Adrenal Medullary Tumor – Children  Neuroblastoma

Bacterial Meningitis – adults  Neisseria meningitidis

Bacterial Meningitis – elderly  Strep pneumoniae

Bacterial Meningitis – newborns  E. coli

Bacterial Meningitis – toddlers  Hib

Bone Tumors  Metasteses from Breast & Prostate

Brain Tumor – Child  Medulloblastoma (cerebellum)

Brain Tumor –Adult  Astrocytoma (including Glioblastoma

Multiforme) then: mets, meningioma, Schwannoma

Breast Carcinoma  Invasive Duct Carcinoma

Breast Mass  Fibrocystic Change (Carcinoma is the most

 common is post-menopausal women)

Bug in Acute Endocarditis  Staph aureus

Bug in debilitated, hospitalized  Klebsiella

pneumonia pt
Bug in Epiglottitis  Hib

Bug in GI Tract  Bacteroides (2nd – E. coli)

Bug in IV drug user bacteremia /  Staph aureus

pneumonia
Bug in PID  N. Gonnorrhoeae

Bug in Subacute Endocarditis  Strep Viridans

Cardiac 1 Tumor – Adults  Myxoma “Ball Valve”

Cardiac 1 Tumor – Child  Rhabdomyoma

Cardiac Tumor – Adults  Metasteses

Cardiomyopathy  Dilated (Congestive) Cardiomyopathy

Cause of 2 HTN  Renal Disease

Cause of Addison’s  Autoimmune (2nd – infection)

Cause of Congenital Adrenal Hyperplasia  21-Hydroxylase Deficiency (then, 11-)

Cause of Cushings  Exogenous Steroid Therapy (then, 1  ACTH,

Adrenal Adenoma, Ectopic ACTH)

Cause of death in Alzheimer pts  Pneumonia

Cause of death in Diabetics  MI

Cause of Death in SLE pts.  Lupus Nephropathy Type IV (Diffuse

Proliferative)

Cause of Dementia  Alzheimer’s

Cause of Dementia (2nd most common)  Multi-Infarct Dementia

Cause of food poisoning  Staph aureus

Cause of mental retardation  Down’s

Cause of mental retardation (2nd most  Fragile X

common)
Cause of preventable blindness  Chlamydia

Cause of Pulmonary HTN  COPD

Cause of SIADH  Small Cell Carcinoma of the Lung

Milton Wolf Page 39 of 9 10/16/10

Chromosomal disorder  Down’s

Congenital cardiac anomaly  VSD (membranous > muscular)

Congenital early cyanosis  Tetralogy of Fallot

Coronary Artery thrombosis  LAD

Demyelinating Disease  Multiple Sclerosis

Dietary Deficiency  Iron

Disseminated opportunistic infection in  CMV (Pneumocystis carinii is most common

AIDS overall)

Esophageal cancer  SCCA

Fatal genetic defect in Caucasians  Cystic Fibrosis

Female Tumor  Leimyoma

Form of Amyloidosis  Immunologic (Bence Jones protein in multiple

myeloma is also called the Amyloid Light Chain)

Form of Tularemia  Ulceroglandular

Gynecologic malignancy  Endometrial Carcinoma

Heart Murmur  Mitral Valve Prolapse

Heart Valve in bacterial endocarditis  Mitral

Heart Valve in bacterial endocarditis in  Tricuspid

IV drug users
Heart Valve involved in Rheumatic Fever  Mitral then Aortic

Hereditary Bleeding Disorder  Von Willebrand’s Disease

Liver 1 Tumor  Hepatoma

Liver Disease  Alcoholic Liver Disease

Location of Adult brain tumors  Above Tentorium

Location of Childhood brain tumors  Below Tentorium

Lysosomal Storage Disease  Gaucher’s

Motor Neuron Disease  ALS

Neoplasm – Child  Leukemia

Neoplasm – Child (2nd most common)  Medulloblastoma of brain (cerebellum)

Nephrotic Syndrome  Membranous Glomerulonephritis

Opportunistic infection in AIDS  PCP

Ovarian Malignancy  Serous Cystadenoma

Ovarian Tumor  Hamartoma

Pancreatic Tumor  Adeno (usually in the head)

Patient with ALL / CLL / AML / CML  ALL - Child / CLL - Adult over 60 / AML - Adult
over 60 / CML - Adult 35-50

Patient with Goodpasture’s  Young male

Patient with Reiter’s  Male

Pituitary Tumor  Prolactinoma (2nd – Somatotropic

“Acidophilic” Adenoma)

Primary Hyperparathyroidism  Adenomas (followed by: hyperplasia, then

carcinoma)

Pt. With Hodgkin’s  Young Male (except Nodular Sclerosis type –

Female)

Pt. With Minimal Change Disease  Young Child

Secondary Hyperparathyroidism  Hypocalcemia of Chronic Renal Failure

Sexually transmitted disease  Chlamydia

Site of Diverticula  Sigmoid Colon

Site of metastasis  Regional Lymph Nodes

Site of metastasis (2nd most common)  Liver

Sites of atherosclerosis  Abdominal aorta > coronary > popliteal >

carotid

Skin Cancer  Basal Cell Carcinoma

Stomach cancer  Adeno

Testicular Tumor  Seminoma

Thyroid Cancer  Papillary Carcinoma

Tracheoesophageal Fistula  Lower esophagus joins trachea / upper

esophagus – blind pouch

Tumor of Infancy  Hemangioma

Type of Hodkin’s  Mixed Cellularity (versus: lymphocytic

predominance, lymphocytic depletion, nodular
sclerosis)

Milton Wolf Page 41 of 9 10/16/10

Type of Non-Hodgkin’s  Follicular, small cleaved

Vasculitis (of medium & small arteries)  Temporal Arteritis

Viral Encephalitis  HSV

Worm infection in US  Pinworm (2nd – Ascaris)

Signature Drug Toxicities

Agranulocytosis  Clozapine

Aplastic Anemia  Chloramphenicol

 NSAIDs
 Benzene

Atropine-like Side Effects  Tricyclics

Cardiotoxicity  Doxorubicin
 Daunorubicin

Cartilage Damage in children  Fluoroquinolones (Ciprofloxacin & Norfloxacin)

Cinchonism  Quinidine

Cough  ACE Inhibitors

Diabetes Insipidus  Lithium

Disulfiram-like effect  Metronidazole

 Sulfonylureas (1st generation)

Extrapyramidal Side Effects  Antipsychotics (Thioridazine, Haloperidol,

Chlorpromazine)

Fanconi’s Syndrome  Tetracycline

Fatal Hepatotoxicity (necrosis)  Valproic Acid

 Halothane
 Acetaminophen

Gingical Hyperplasia  Phenytoin

Gray Baby Syndrome  Chloramphenicol

Gynecomastia  Cimetidine
 Azoles
 Spironolactone
 Digitalis

Hemolytic Anemia in G6PD-  Sulfonamides

deficiency  Isoniazid
 Aspirin
 Ibuprofen
  Primaquine

Hepatitis  Isoniazid

Hot Flashes, Flushing  Niacin

 Tamoxifen
 Ca++ Channel Blockers

Induce CP450  Barbiturates

 Phenytoin
 Carbamazepine
 Rifampin

Inhibit CP450  Cimetidine

 Ketoconazole

Interstitial Nephritis  Methicillin

 NSAIDs (except Aspirin)
 Furosemide
 Sulfonamides

Monday Disease  Nitroglycerin Industrial exposure  tolerance

during week  loss of tolerance during weekend 
headache, tach, dizziness upon re-exposure

Orange Body Fluids  Rifampin

Osteoporosis  Heparin
 Corticosteroids

Positive Coombs’ Test  Methyldopa

Pulmonary Fibrosis  Bleomycin

 Amiodarone

Red Man Syndrome  Vancomycin

Severe HTN with Tyramine  MAOIs

SLE-like Syndrome  Procainamide

 Hydralazine

Tardive Dyskinesia  Antipsychotics (Thioridazine, Haloperidol,

Chlorpromazine)

Tinnitus  Aspirin
 Quinidine

Miscellaneous
• Fastest growing tumor – Burkitt’s
• PE’s are found in half of all autopsies
• Courvoisier’s Law: tumors that obstruct the common bile duct cause enlarged gallbladders, but
obstructing gallstones do not (too much scarring).
Milton Wolf Page 43 of 9 10/16/10
• Only DNA virus to replicate in cytoplasm: Pox
• Only RNA virus to replicate in nucleus: Influenza
• Bacillus anthracis has the only protein capsule
• Bordetella pertussis (Whooping Cough) elicits lymphocytosis rather than granulocytosis
• Bronchioalveolar carcinomas grow without destroying the normal architecture of the lung
• Cryptococcus neoformans often lacks a capsule and, when stained with GMS, looks just like
Pneumycistis carinii, except that Cryptococcus lacks the prominent nucleoli.