Lapkas Anak (Prof Dr. Hj. Bidasari)

CHAPTER 1
INTRODUCTION
1.1. Background
Malnutrition can be dened as a state of nutrition in which deciency or excess of energy,
protein, and other nutrients causes measurable adverse effects on tissue and body form and
function, and clinical outcome. Malnutrition can be of the acute, chronic or mixed type.
Acute malnutrition is the type that usually occurs in illness, but children with underlying
chronic diseases whoare admitted to the hospital because of an acute illness can also present
with chronic malnutrition. Anthropometric variables are used to dene nutritional status
worldwide but various classication systems and cutoff points are used to dene
malnutrition. One such classication method includes kwashiorkor and marasmus. These
terms were originally established to describe syndromes of protein-energy malnutrition in
children in developing countries. The most used classication system was that described by
Waterlow, in which acute and chronic malnutrition were divided into four stages, on the basis
of the actual weight to the 50th percentile of Weight For Height for acute malnutrition and
the actual height to the 50th percentile for height for chronic malnutrition.
Childhood malnutrition is a disease of relevance and importance to public health. These
children exhibit elevated morbidity and increased prevalence of hospital admissions. When
admitted to the hospital they are not generally subjected to anthropometric assessment and do
not, therefore, receive nutritional support. Hospital acquired malnutrition is caused by a
reduction in the hospitalized children nutritional intake and increase in their calorie
requirements as a result of morbidity. There is an identified number of contributing factors to
the widespread existence of under nutrition among hospitalized child and sometimes leads to
exacerbation of his or her nutritional status.
Examples are interference with meal times by ward rounds, investigations and procedures.
Nil-by-mouth orders may be used inappropriately or prolonged unnecessarily. A patient
may be kept nil-by mouth all morning only to find that their treatment has been cancelled or
delayed. In addition, many drugs cause anorexia, taste changes, nausea, vomiting or
constipation, thereby reducing food intake. The psychological outcome of hospitalized
children remains little studied and poorly understood. Children have been observed to be
anxious, withdrawn, fearful, restless, and angry or demonstrate hostile behaviors and
therefore, contributing to malnutrition.
Cholestasis is defined as reduced bile flow and abnormal accumulation of conjugated
bilirubin, indicating impaired hepatobiliary function. Conjugated bilirubin is considered
abnormal if it is 1 mg/dl or above when the total bilirubin is less than 5 mg/dl or more than 20
percent of the total bilirubin when the total is above 5 mg/dl.
Cholestasis occurs in approximately 1 in 2,500 births. Biliary atresia and neonatal hepatitis
account for most cases. The other etiologies of cholestasis are numerous and include
anatomic obstruction (such as bile sludging and choledochal cyst), infection (such as urinary
tract infection and CMV), metabolic disorders (such as galactosemia and tyrosinemia),
genetic disorders (such as alpha-1 antitrypsin deficiency, cystic fibrosis and Alagille
syndrome), endocrine dysfunction (such as hypothyroidism and panhypopituitarism) and
toxins (such as TPN).
The primary care physician is critically important in the evaluation of the jaundiced infant. It
is recommended that all infants with persistent jaundice beyond 2 weeks old be assessed with
a fractionated bilirubin. In healthy breast-fed infants with no signs of cholestasis, this
investigation can be postponed until 3 weeks old. If conjugated hyperbilirubinemia is present,
prompt referral to a pediatric gastroenterologist for further evaluation is imperative.
Developmental Disability/Delay (DD) is present when functional aspects of a childs
development in one or more domains are significantly delayed compared to the expected
level for age. These functional aspects are gross/fine motor, speech/language, cognition,
social/personal, and activities of daily living. Global Developmental Delay (GDD) is a subset
of Developmental Disability/Delay, defined as significant delay in two or more
developmental domains. However, this is reserved for children less than 5 years old. An
estimated 12-16% of children have a developmental and/or behavior disorder.
CHAPTER 2
LITERATURE REVIEW
2.1. HOSPITAL ACQUIRED MALNUTRITION

2.1.1. DEFINITION
Malnutrition can be defined as a state of nutrition in which deficiency or excess of
energy, protein, and other nutrients causes measurable adverse effects on tissue and body
form and function, and clinical outcome. The World Health Organization (WHO) defines
malnutrition as the cellular imbalance between the supply of nutrients and energy and the
bodys demand for them to ensure growth, maintenance, and specific functions. This
dynamic imbalance of nutrients affects children differently than adults and can have profound
implications for the developing child.
The most used classification system was that described by Waterlow,1 in which acute
and chronic malnutrition were divided into four stages, on the basis of the actual weight
to the 50th percentile of WFH for acute malnutrition and the actual height to the 50th
percentile for height for chronic malnutrition.
In 1992, the international
statistical classification of disease
and
related
health
problems used weight, expressed as SD scores, to define the probability of malnutrition.

For example, an SD score between 1 and 2 (representing 13.5% of the reference
population) indicates a probability of mild malnutrition and an SD score of less than
2 indicates a probability of severe malnutrition (2.3%). This statistical approach does
not use weight-for-height index and does not define the reference population. In 1999, the
World Health Organization2 recommended an additional classification for malnutrition in
children, which became widely used. The likelihood of malnutrition is defined using a
cutoff point of
2 SD. A child with a SD score between
1 and
2 is no longer defined
as malnourished. According to these WHO criteria, a SD score for WFH between 3 and
2 can be considered as moderate malnutrition
malnutrition.
and a SD score below 3 as severe
Acute malnutrition (severe and moderate) is defined as one of the following:
WFH SD score less than 2,
WFH less than 80% of the median,
% ideal body WFH less than 80,
WFH less than 5th percentile,
BMI SD score less than 2.
Chronic malnutrition is defined as:
Height for age (HFA) SD score less than
HFA less than 90% of the median,
HFA less than 5th percentile.
2,
Hospital acquired malnutrition refers to nutrient imbalance acquired during hospitalization

and may occur with or without pre-existing malnutrition, or malnutrition that was present
prior to hospital admission. The mechanisms of nutrient imbalance in illness-related
malnutrition include decreased nutrient intake, altered utilization, increased nutrient losses, or
increased nutrient requirements (hyper metabolism) not matched by intake.
2.2 CAUSES
Hospital acquired malnutrition occurs largely among children admitted to hospital with an
underlying disease.
Cardiac disease
Cardiac cachexia refers to a syndrome of protein-energy malnutrition seen in patients
with chronic cardiac disease. A high prevalence percentage of low WFH is reported
most commonly in patients with chronic congestive failure, chronic shunt hypoxemia and
nosocomial postoperative acute and chronic states. Various studies3-5 among children
with various cardiac diseases (e.g. congenital
heart
cardiomyopathy) showed prevalence rates between
disease,
idiopathic
dilated
18 and 64% on admission.
The
highest rates were found in cardiac surgical patients and in children with congenital
heart diseases and left-to-right shunt.
Cystic fibrosis
Malnutrition is an extremely substantial complicating factor in patients
with cystic
fibrosis. A poor nutritional status is a negative prognostic factor and malnutrition and
deterioration
of lung function are interrelated and inter- dependent. Substantial
improvements in medical management including nutritional therapy have been made.

In the USA, in 1999, it was reported that 24% of the cystic fibrosis patients had a weight
less than the 5th percentile. In a very large study in the USA6, children below 1
year and above 10 years appeared to be at more risk of acute malnutrition than children
aged 1 10 years.
Malignancy
Malnutrition in childhood cancer is a common and serious problem.
previously mentioned con- sequences
of malnutrition,
it
Besides
is associated
with
the
a
decreased tolerance to chemotherapy. Although malnutrition is not uniformly found in
all pediatric malignancies, certain types of malignancies are at high nutritional risk (solid
tumors,
medulloblastoma, acute
nonlymphocytic leukemia,
and multiple relapse
leukemia). Furthermore, marked differences in the prevalence of malnutrition will be

found between children on therapy and those off therapy. The use of body weight to
assess nutritional status in pediatric cancer patients has been misleading because of the
confounding effects of tumor mass. Up to 50% of pediatric patients with malignancies
to be undernourished. Recently, a study6 reported a prevalence rate of
were reported
9.1% acute malnutrition (<80% WFH) in patients with pediatric
malignancies
on
admission. In a study3 among 1033 patients with acute lymphoblastic leukemia, it is

found
a rate
of about 7% malnutrition (BMI <
2 SD). Another study observed
malnutrition (WFH < 2 SD) in 28% of the patients with a solid tumor.
Renal disease
In children with chronic kidney disease, both acute and chronic malnutrition are highly
prevalent, and become more pronounced when dialysis treatment is initiated. In a mixed
population study7, malnutrition was observed in 64% of the
children
with kidney
insufficiency using WFA SDS score less than 2.

Pediatric intensive care
Despite
improvements in
intensive
care
technology, feeding
possibilities
and
increased awareness of the significance of adequate nutritional support, it is found t h a t

24% of the children to be acutely and chronically malnourished on admission to the
pediatric intensive care unit (PICU) (WFH <
2 SD or HFA <
2 SD)6. There was a
high prevalence (84%) of underlying growth- affecting disease in those with acute
malnutrition.
acute
and
On discharge, on average for the preterm and term neonates together,

chronic
malnutrition
rates
had increased to 26 and 48%, respectively,
whereas the prevalence of malnutrition in the older children was found not to have
changed during the ICU stay. This study is the only study in which the nutritional
status of pediatric intensive care patients was followed during admission and 6 weeks
and 6 months after discharge. Most children had good long-term outcome in terms of
nutritional status after discharge.
Neurological disorders
In
general,
poor nutritional
status
and growth is often seen in children
with
neurological disorders. It is advocated to use specific weight charts for specific diseases
such as Duchennes muscular dystrophy. The precise prevalence varies depending on
the criterion by which malnutrition is defined, the degree of mental retardation, the
presence of associated problems, treatment administered, and socioeconomic and family
environment. In a study, eight different criteria were used to define the nutritional
status
of mentally retarded children on the basis of anthropometric variables. The
prevalence of malnutrition increased with age, increasing intelligence quotient deficit and
cerebral palsy.
In children with Duchenne muscular dystrophy, malnutrition occurs after the age of 14
years, involving 54% of boys at about 18 years of age. Evaluating
developmentally
disabled children is often difficult because they do not fit into normal standards for
assessment. In children with cerebral palsy, malnutrition is associated with the degree
of feeding dysfunction. A s t u d y found in a mixed population7, using the criterion
less than 80% WFH, malnutrition in 24% of the children with mental retardation.
In conclusion, a summary was given of the prevalence of malnutrition in a selection of
children with an underlying disease. The main finding is that malnutrition
highly prevalent
in children
with an underlying
is still
disease. In children with chronic
inflammatory diseases such as chronic kidney disease, both acute and chronic malnutrition remain highly prevalent, probably due to the ongoing inflammatory state. For
diseases such as inflammatory bowel disease and AIDS, the nutritional status is also
dependent on the degree of inflammation
2.3 PATHOGENESIS
Inflammatory conditions may increase requirements for nutrients while promoting a nutrientwasting catabolic state. Illness-related malnutrition is associated with an inflammatory
component. Inflammation promotes skeletal muscle breakdown, mediated by a cytokinedriven pathway. Critical illness or injury promotes an acute inflammatory response that has a
rapid catabolic effect on lean body mass. The acute phase inflammatory response is
associated with elevated resting energy expenditure and nitrogen excretion and thereby
energy and protein requirements, respectively. Nutrition supplementation alone only partly
reverses or prevents muscle protein loss in active inflammatory states. The anorexia that
accompanies inflammation will promote further loss of lean tissue if nutrition intake is
inadequate. Over the past decade, it has become increasingly evident that the
pathophysiology of disease or injury-associated malnutrition invariably includes acute or
chronic inflammation that affects body composition and biological function.
The inflammatory condition may be short-lived or chronic in nature with the severity being
influenced by the progression and extent of underlying illness/disease condition. Loss of
muscle mass and function may occur insidiously in the chronic disease state over months to
years. It is important to recognize the presence or absence of a systemic inflammatory
response in the malnourished state, as it affects the response to intervention. In the absence of
inflammation, as seen in malnutrition due to starvation, appropriate nutrient interventions
may be successful in treating malnutrition. On the other hand, the presence of inflammation
may limit the effectiveness of nutrition interventions, and the associated malnutrition may
compromise the clinical response to medical therapy. If inflammation is present, then it is
useful to clarify whether it is mild, moderate, or severe and transient or sustained. The
recently proposed adult malnutrition definition has suggested that acute diseaserelated
malnutrition is probably associated with a severe degree of inflammation and chronic diseaserelated malnutrition with a mild to moderate degree of inflammation.
However, the role of inflammation and currently available inflammatory markers, such as Creactive protein (CRP) or erythrocyte sedimentation rate, in classifying pediatric malnutrition
severity has not been adequately described.
Inflammatory cytokines can impair growth via multiple pathways. Anorexia, skeletal muscle
catabolism, and cachexia affect the growth plate via insulin-like growth factor 1 (IGF-1)
independent or IGF-1dependent pathways. The inhibitory effects of tumor necrosis factor
(TNF-) and interleukin (IL)1 on the growth plate are reversed by antiIL-1 and anti
TNF-. The effect of TNF- on IL-6 transcription and circulating leptin level may be
reversed by infliximab. In pediatric Crohns disease, growth retardation may result from a
complex interaction between nutrition status, inflammation, disease severity, and genotype,
which causes resistance to the effects of growth hormone. Elevated serum concentration of
CRP is one of the most common nontraditional markers used to stratify cardiovascular risk,
and it has been used to identify patients with chronic inflammation as it reflects a pro-
inflammatory state. IL-6 concentrations may be an important marker of early inflammatory

response with serial levels correlating with nutrition status in critically ill children. Although
there is no doubt about the association between inflammatory state and nutrition recovery, the
precise nature of this relationship remains elusive.
2.4 PREVENTION
To prevent malnutrition and especially hospital-acquired malnutrition,
the risk of
nutritional depletion needs to be identified at the time of admission so that appropriate

nutritional intervention can be initiated at an early stage. Routine nutritional screening is
rarely carried out in pediatric patients due to the lack of a simple and valid nutritional
screening tool. Only two screening tools have been published since 2000 to identify
Sermet-Gaudelus et al.8 described
children at risk of malnutrition.
a simple pediatric
nutritional risk score, which is suitable for routine use to identify patients at risk of
malnutrition during hospitalization. Nutritional risk was assessed prospectively in 296
children by evaluating various factors within 48 h of admission. Multivariate analysis
indicated that food intake less than 50%, pain, and grades 2 and
conditions
were associated
3 pathologic
with weight loss of more than 2%. These significant risk
factors were scored (one point for food intake <50%, one for pain, one for grade 2
pathologic condition,
and three
for grade 3 pathologic condition) and add up to a
nutritional risk score ranging from 0 to 5. A score of 1 or 2 indicated moderate risk and
a score of more than 2 indicated high risk of malnutrition. Of the patients who lost
less than 2% of their reference weights, 25% were in the moderate class, and 78%
were in the high-risk class.
Secker and Jeejeebhoy9 recently reported the use of the subjective global nutritional
assessment (SGNA) screening tool. Prospectively, the preoperative nutritional status
of 175 children having major thoracic or abdominal surgery was evaluated with the use
of SGNA and objective measurements. The SGNA consisted of a nutrition-related
physical examination and gathered information
on the
childs recent
and current
height and weight history, parental heights, dietary intake, frequency and duration of
gastrointestinal symptoms, current functional capacity and recent changes. These items
together
led to a global assessment of the patients nutritional status, assigning a
global rating of well nourished, moderately malnourished, or severely malnourished.

A rigid scoring system based on specific criteria was not used. SGNA successfully
divided children into the three groups with significantly different mean values for
various anthropometric measures. SGNA was considered a valid tool for assessing
nutritional status in children and identifying those at higher risk of nutrition-associated
complications and prolonged hospitalizations. Both methods
described
by Sermet-
Gaudelus et al. and Secker and Jeejeebhoy link nutritional status to outcome. Both
methods have their limitations in use. The tool of Sermet-Gaudelus et al. needs a period
of 48 h after admission to complete and the study results of Secker and Jeejeebhoy were
not based on a single assessor but were a composite of the data of five asessors. For both
methods, skilled staff are necessary and the procedures seem to be time-consuming.
3.1. CHOLESTASIS
3.1.1. DEFINITION
Neonatal cholestasis is defined as impaired canalicular biliary flow resulting in accumulation
of biliary substances (bilirubin, bile acids and cholesterol) in blood and extrahepatic tissues.
Jaundice is a common clinical finding in the first 1 to 2 weeks after birth and usually
resolves spontaneously. Any infant who is jaundiced beyond 2 to 3 weeks after birth needs
further evaluation to rule out neonatal cholestasis.10
3.1.2. PATHOPHYSIOLOGY
The normal process of bile production involves two main processes: uptake of bile acids by
hepatocytes from the blood and excretion of bile acids into the biliary canaliculus. Uptake of
bile acids from sinusoidal blood is an active process at the sinusoidal membrane of the
hepatocytes. Na taurocholate cotransporting polypeptide (NTCP) and organic anion transporting proteins (OATP) are the two main receptors involved in the uptake of conjugated bile
acids by the liver cells. These receptors are also responsible for the transport of other an- ions
like drugs and toxins through the hepatocellular membrane. At the biliary canaliculus, bile
salt export pump (BSEP) and the multidrug resistant proteins MRP2 and MDR3 are
involved in the secretion of bile acids into bile. These pumps are present in the canalicular
membrane.
In newborn infants, the biliary system is both structurally and functionally immature making
them more susceptible to cholestasis. In hepatitis and sepsis, there is down regulation of the
NTCP and OATP receptors resulting in decreased bile production and cholestasis. Various
genetic defects in the transporter proteins have been recognized in familial cholestasis
syndromes, eg, mutation of BSEP gene in progressive familial intrahepatic cholestasis type 2
(PFIC), defect in the MDR3 in PFIC type 3.
3.1.3 CLASSIFICATION
The differential diagnosis of neonatal cholestasis is extensive and can be classified based on
the anatomic location of the pathology into extrahepatic and intrahepatic causes. Biliary
atresia and choledochal cyst are examples of extrahepatic
causes while common intrahepatic causes include idiopathic neonatal hepatitis, infections,
1-antitrypsin deficiency and other metabolic disorders. The different causes of cholestasis can
also divided into broad etiological categories like infectious, metabolic, toxic, chromosomal,
vascular disorders and bile duct anomalies.
The causes of cholestasis are as below:
1) Idiopathic neonatal hepatitis
2) Infections
Viral
Cytomegalovirus
Rubella
Reovirus3
Adenovirus Coxsackie
Virus Human herpes
Virus 6
Varicella zoster
Herpes simplex
Parvovirus
Hepatitis B and C
Human immuno-deficiency virus
Bacterial
Sepsis
Urinary tract infection
Syphilis
Listeriosis
Tuberculosis
Parasitic
Toxoplasmosis
Malaria
Bile duct anomalies
Biliary atresia
Choledochal cyst
Alagille syndrome
Non syndromic bile duct paucity
Inspissated bile syndrome
Caroli syndrome
Choledocholithiasis
Neonatal sclerosing cholangitis
Spontaneous bile duct perforation
Metabolic disorders
1-antitrypsin deficiency
Galactosemia
Glycogen storage disorder type IV
Cystic fibrosis
Hemochromatosis
Tyrosinemia Arginase deficiency
Zellwegers syndrome
Dubin-Johnson syndrome
Rotor syndrome
Niemann Pick disease, type C
Gauchers disease
Bile acid synthetic disorders
Progressive familial intrahepatic cholestasis

North American Indian familial cholestasis
Aagenaes syndrome
X-linked adreno-leukodystrophy
Endocrinopathies
Hypothyroidism
Hypopituitarism (Septo-optic dysplasia)
Chromosomal disorders
Turners syndrome
Trisomy 18
Trisomy 21
Trisomy 13
Cat-eye syndrome
Donahues syndrome (Leprechauns)
Toxic
Parenteral nutrition
Fetal alcohol syndrome
Drugs
Vascular
Budd-Chiari syndrome
Neonatal asphyxia
Congestive heart failure
Neoplastic
Neonatal leukemia
Histiocytosis X
Neuroblastoma
Hepatoblastoma
Erythrophagocytic lymphohistiocytosis
Miscellaneous
Neonatal lupus erythematosus
Le foie vide (infantile hepatic non regenerative disorder)
Indian childhood cirrhosis
3.1.4 CLINICAL PRESENTATIONS

An infant with cholestasis usually presents with prolonged jaundice, pale stools and dark
urine. Acholic stools are a cardinal feature of cholestasis and should be promptly evaluated.
Some infants may present with signs of coagulopathy due to deficiency of clotting factors or
vitamin K deficiency. Neurological abnormalities like irritability, lethargy, seizures and poor
feeding may indicate either sepsis or metabolic disorders.
Physical examination is remarkable for jaundice. Hepatomegaly is common. Splenomegaly
may be seen in infants with advanced liver disease. Other physical findings may include
growth retardation seen in congenital infections and syndromic facial dysmorphisms.
Choledochal cyst can present as a mass in the right upper quadrant
3.1.5 DIAGNOSIS
Any infant presenting with jaundice beyond 2 weeks after birth should be immediately
evaluated for cholestasis. A detailed history (including family history, pregnancy and
delivery history and postnatal course) and physical examination could provide clues to a
specific diagnosis. Breast- fed infants who can be reliably monitored and have an
otherwise
normal
history
and
physical examination should be reevaluated at 3
weeks of age and if still jaundiced, have fractionated serum bilirubin levels checked at that
time. Once cholestasis is established, further investigations should be done in a stepwise
manner to establish the specific cause of cholestasis. The investigations should first rule out
conditions requiring immediate intervention like sepsis, metabolic disorders like
galactosemia, glycogen storage disorders and other endocrinopathies. Once they have
been excluded, the next step is to look for biliary atresia. It is important to establish or
rule out biliary atresia early because of better prognosis if the patient undergoes surgical
intervention before 60 days of life. If biliary atresia has been excluded, further
investigations should be done to establish the cause of intrahepatic cholestasis. The
potentially extensive evaluation of an infant with cholestasis should be individualized to
efficiently and promptly establish a diagnosis.
3.1.6 Management
Medical management of cholestasis is mostly supportive and does not alter the natural course
of the disease. It is aimed mostly at treating the complications of chronic cholestasis like
pruritus, malabsorption and nutritional deficiencies and portal hypertension.10
4.1 GLOBAL DEVELOPMENTAL DELAY

4.1.1 DEFINITION
Developmental Disability/Delay (DD) is present when functional aspects of a childs
development in one or more domains are significantly delayed compared to the expected
level for age. These functional aspects are gross/fine motor, speech/language, cognition,
social/personal, and activities of daily living. Global Developmental Delay (GDD) is a subset
of Developmental Disability/Delay, defined as significant delay in two or more
developmental domains.
Children with developmental delays often are identified early in life, because they fall
significantly behind their age-mates in meeting developmental milestones. For example, a
young child may be slow to roll over, to understand his or her name, or to exhibit fine motor
skills. Parents of infants often worry when their second child takes longer than the first to
display a specific ability. In fact, the range of ages within which an infant should be able to
perform any given skill is broad. Differences in personality can also result in variations in
developmental progress. Nevertheless, special educators and medical doctors find that the
behaviors and abilities of children who have developmental delays are well outside the age
ranges for almost every developmental benchmark.
Identifying a child with a developmental delay involves going through a set of evaluative
processes, including intelligence tests, developmental scales, adaptive behavior evaluations,
and tests of general knowledge. Evaluation tools such as intelligence tests and behavioral
scales are normed on a large sample of the population over a long period of time, and the
scores from these sample assessments are distributed along a curve, offering a picture of how
the measured attributes occur in the general population.
Figure 4.1 illustrates a bell curve (or normal curve), the graphic shape that depicts scores on
any standardized measure. On such a curve, the mean (average) score falls in the middle, and
a statistical measure called a standard deviation is used to indicate the distance of a given
score from the mean. When educational evaluators describe children with developmental
delays, they are talking about children whose assessment scores fall at least two standard
deviations below the mean. As you can see from the figure, this means that the childrens
scores are lower than those of 95 percent of the population used to establish the norms for the
test.
4.1.2.CAUSES
The primary cause for developmental delays in school-aged children is genetic abnormalities.
For example, phenylketonuria (PKU) is a single-gene disorder also referred to as an inborn
error of metabolism. PKU leads to mental retardation and other developmental delays if
untreated in infancy because the body is unable to produce proteins or enzymes needed to
convert certain toxic chemicals into nontoxic products or to transport substances from one
place to another (Glanze, 1996). Infants with untreated PKU appear to develop typically for
the first few months of life, but by twelve months of age most of them will have a significant
developmental delay and will be diagnosed with mental retardation before they start school.
Down syndrome is an example of a chromosomal disorder. Chromosomal disorders happen
sporadically and are caused by too many or too few chromosomes or by a change in structure
of a chromosome. In the case of Down syndrome, the children have recognizable physical
characteristics and limited intellectual endowment because of the presence of an extra
chromosome 21.
Similarly, fragile X syndrome arises from a single gene located on the X (female)
chromosome. It is the leading inherited cause of mental retardation.
Other causes of developmental delays include these:
Problems during pregnancy. Use of alcohol or drugs by a pregnant mother can cause
mental retardation and developmental delays in the child. Research suggests that
smoking also increases the risk of developmental delays. Other risks include
malnutrition, certain environmental contaminants, and illnesses of the mother during
pregnancy, such as toxoplasmosis, cytomegalovirus, rubella, and syphilis. Pregnant
women who are infected with HIV may pass the virus to their child, leading to future
neurological damage.
Problems at birth. Although any birth condition of unusual stress may injure the
infants brain, prematurity and low birth weight predict serious problems more often
than any other conditions.
Problems after birth. Childhood diseases such as whooping cough, chicken pox,
measles, and HIB disease (which may lead to meningitis and encephalitis) can
damage the brain, as can accidents such as a blow to the head or near drowning. Lead,
mercury, and other environmental toxins can cause irreparable damage to the brain
and nervous system. It is important to note that some children with developmental
delays have problems caused by abuse or neglect. Although accidents and injuries can
result in brain damage, it is often difficult to determine whether the childs problems
existed prior to the accident.
Measured by both intelligence and adaptive behavior measures, approximately 1 percent of

the general population has developmental delays. According to states data reported to the
U.S. Department of Education, in the 19971998 school year approximately six hundred
thousand students between the ages of six and twenty-one were classified as having
developmental delays and received services from public schools. This figure does not include
students reported as having multiple disabilities or those in noncategorical special education
preschool programs.
4.1.3 TYPES
Development delays are disorders, not diseases, and should not be confused with mental
illness. Many educators and researchers agree that people with developmental delays develop
in the same way that people without a developmental disorder do, but at a slower rate. Others
suggest that persons with developmental delays have difficulties in particular areas of basic
thinking and learning such as attention, perception, or memory. Depending on the degree of
impairment, individuals with developmental delays will follow different developmental
pathways for academic, social, and vocational skills.
In an attempt to characterize and classify the varying degrees of difficulty these children
experience, special educators often label children according to the type of services that they
receive. In 1992, the American Association on Mental Retardation established a system of
classification that is wide use extensively today. It includes the following four levels of
intensity:
Intermittent. Children who have developmental delays that do not cause day-to-day
difficulties, but who need support occasionally and during transitions (for example,
the transition from junior high to high school).
Limited. Children who have daily limitations but can achieve a good degree of selfsufficiency after education and training.
Extensive. Support for these children extends consistently throughout their lifetime,
and they will not live independently.
Pervasive. Used rarely, this term describes children whose developmental delays
prohibit them from most self-help activities. These children typically require support
for life-sustaining activities.
4.1.4 MANAGEMENT
Management of children with developmental delays are usually in the form of therapy. The
therapies are
Occupational and physical therapy. Therapy can help children with motor skills (such
as increasing range of motion and fine motor skills); perceptual skills (for instance,
helping a child track an object in two- or three-dimensional space); and socialemotional skills (working in groups and taking turns). Occupational therapy also
focuses on the use of adaptive and assistive technologies.
Speech/language therapy. This type of therapy can help children with articulation and
expressive disorders; it also boosts receptive language skills.
Psychotherapy and psychiatric therapy. Broadly speaking, psychological therapy

helps children with the process of recognizing, defining, and overcoming
psychological and interpersonal difficulties. School psychologists are also responsible
for administering many of the assessment inventories mentioned earlier. Psychiatrists
have medical credentials and are responsible for managing any medication therapy the
child may receive for psychological issues, such as anxiety, depression, and sleep
disorders.
CHAPTER 3
CASE REPORT
Name
: AD
Age
: 1 years 11 month
Sex
: Male
Date of Admission
: Augusts, 16th 2013
Main complain: Yellowish pigmentation throughout the body. Patient has been experiencing
this approximately 1 week ago before visiting the hospital. Initially, it started on both eyes,
spreading on face and throughout the body. Fever was found about 1 week ago, not too high
and subsided with medication. Convulsion or seizure was not found. Patient was found
shivering during fever.
Patient was also suffering from diarrhea since 3 days ago, with a frequency of less than 3
times a day. The consistency of the feces was watery with residues. It was slimy indicating
the presence of mucus. However, blood was not found.
Patient's urine was in a colour similar with dark tea (dark and brownish) since 1 week ago.
At the time of the physical examination, patient is unable to face down and lift his head. He is
only able to tilt his head to the left and right.
Patient was given food and drinks through NGT because he is not able to eat and drink
properly with his mouth.
History of previous illness: Patient was treated in a hospital before at the age of 3 months
old with the diagnose of coagulated blood due to trauma and had an head operation.
Physical Examination
Body weight : 5.5kg
Height
: 53.4 cm
Presence status
Sens. Compos Mentis, Body temperature: 36.5 oC, Pulse: 152 bpm, Respiratory Rate: 40bpm.
Localized status
1. Head
: Microcephalic Eye : Light reflexes(+/+), isochoric pupil, conjunctiva

palpebra inferior ane (+/+), icteric (+/+) , Ear : Normal appereance ,
Mouth : Sianosis (-), Nose: Normal appereance.
2. Neck
: Lymph node enlargement (-)
3. Thorax
: Icteric (+) Symmetrical fusiformis. Epigastria retraction (-).

HR:152bpm, regular, murmur (+) systolic grade III-IV HR: 40bpm,
regular. Crackles (-/-), interposed rib clearly visible
4. Abdomen
: Distention (+), symmetrical, Decreased tenderness, Peristaltic

movement normal. Liver: palpable 3cm from costal margin,
concentration kenyal, flat surface, Pain(-). Spleen : Normal
5. Extremities
: Pulse 152 bpm, regular, adequate pressure and volume, warm

extremities, CRT< 2.
Working Diagnosis
: Cholestasis Jaundice + Global Development delay + Microchepaly
Diffential Diagnosis : - Cholestasis Jaundice + Global Development Delay + Microchepaly

- Suspected of hepatitis
- Suspected of sepsis
- Microchepaly
Medication
: IVFD D 5% NaCl 0.2 25% 20gtt/I micro
Follow Up
August, 16th 2013
S: Yellowish skin colour on the whole body (+)
O: Sens: CM, Temp: 37 oC
Head
Microsefali ,Eye : Light reflexes(+/+), isochoric pupil, pale conjunctiva
palpebra inferior (-/-), icteric (+/+) , Ear : Normal appereance ,Mouth :
Sianosis (-), Nose: Normal appereance Face icteric (+)
Thorax
Ikteric (+), Symmetrical fusiformis. Retracsi (-).

HR: 139 bpm, reguler, murmur (-)
RR: 28 bpm, reguler. Crackles (-/-)
Abdomen
Icteric (+), symmetrical, Decreased tenderness, Peristaltic (-). Liver:

palpable 4cm from costal margin, sharp edge, flat surface, Pain(-)
Spleen:normal
Extremities Pulse 139 bpm, regular, adequate pressure and volume, warm acral, CRT<
2.
A: Cholestasis jaundice + Global Development delay + mikrosefali

P:
Plan :
-
O2 1-2 l/I nasal canule

Sistecol 3 x 90 mg
Urdafalk 3 x 20 mg
Folic acid 1x5mg , 1x1 mg
Diet Sv 550 kkcl + protein
Inj. Cefiazone 135 mg / 12 hour / iv ( skin test )
GK DL, LED, HST, RFT, LFT, Urinalisa

Urinalisa and Feces
Electrolic
CRP
Pulcalaton
PRC Transfusion
Pemeriksaan Hasil Lab RS Gatot Subroto
Laboratory Result:
August, 5th 2013
Complete blood count(CBC)
Hemoglobin (HGB)
Eritrosit (RBC)
Leukosit (WBC)
Hematokrit
Trombosit (PLT)
MCV
MCH
MCHC
RDW
PDW
MPV
PCT
WBC Count
Neutrofil
Limfosit
Monosit
Eosinofil
Basofil
g%
106/ mm3
103/ mm3
%
103/ mm3
fL
Pg
g%
%
%
fl
%
10,09
86
30
35
14,5
15,6
7,1
0,787
12.0-14.4
4.75-4.85
4.5- 13.5
36 42
150-450
75-87
25-31
33-35
11.6 14.8
10-18
6,50-9,50
0,100-0,500
%
%
%
%
%
33
41
15
4
0
37 80
20 40
28
16
01
16,300
31,5
Laboratorium Resuls (Gatot Subroto, 05/08/2013)
Pemeriksaan
Hasil
Satuan
Nilai Normal
21,08
Mg/dl
Dewasa: 0,1-1,2
FAAL HATI
Bilirubin
Total/Direk
Bilirubin
Total
>1 bulan : 0,2-1,0

4-6 hari : 0,1 -12,6
3 hari : 0,7 -12,7
2 hari : 1,3-11,3
< 1 hari :
Bilirubin
Direct
19,39
Mg/dl
0-0,2
HBsAg
NEgatif
Negatif Indeks : <0,13
TV:
0.01
Positif indeks : >=0,13
Alkaline
Phospatase
2515
U/L
P: 53-128 W:42-98
SGOT
121
U/L
P: <37 W:<31
SGPT
93
U/L
P: <41 W:<31
Gamma GT
20
U/L
P: <49 W:<32
Module Gastro hepatologi

Recommendation : check bilirubin urine , KGD , Blood glucose level, albumin
USG hepatobiilier
Uldafalk 3 x 28
Laboratory Result:
August,5th 2013
Blood Gases
Ph
pCO2
pO2
Bikarbonat (HCO3)
Total CO2
Kelebihan Basa (BE)
Saturasi
Carbohydrate
metabolism
Glukosa ad random
Renal
Ureum
Kreatinin
Electrolytes
Natrium (Na)
Kalium (K)
Klorida (Cl)
mmHg
mmHg
mmol/L
mmol/L
Mmol/L
%
7.174
60.8
164.3
21.9
23.7
-6.6
98.6
7.35-7.45
38-42
85-42
22-26
19-25
(-2)-(+2)
95-100
Mg/dl
362.00
<200
Mg/dl
Mg/dl
15.00
0.34
<50
0.50-0.90
mEq/L
mEq/L
mEq/L
135
2.8
106
135-155
3.6-5.5
96-106
August, 17th 2013

S: yellowish skin colour on the whole body (+)
Head
palpebra inferior (-/-), icteric (+/+) , Ear : Normal appereance ,Mouth :
Sianosis (-), Nose: Normal appereance Face icteric (+),
Thorax
Ikteric (+), Symmetrical fusiformis. Retracsi (-).

RR: 36 bpm, reguler. Crackles (-/-),
Abdomen

Spleen:Normal
2.
A: Cholestasis jaundice + Global Development delay
P: -
Suspect hepatitis
Suspect sepsis
Suspect microsefali
IVFD 0.5% Nacl 0,225% - 20 gtt/i micro

Sistecol 3 x 90 mg
Urdafalk 3 x 20 mg
Folic acid 1x5mg , 1x1 mg
Diet Sv 550 kkcl + protein
Laboratorium Result : August, 18th 2013
Jenis
Pemeriksaan
Satuan
Hasil
Rujukan
g/dL
3.8
3.8-5.4
68
<200
Keterangan
Kimia Klinik
Hati
Albumin
Metabolisme Karbohidrat
Glukosa Darah
(Sewaktu)
mg/dL
August, 18th 2013

S: Yellowish skin colour on the whole body, Fever(+)
Head
palpebra inferior (-/-), icteric (+/+) Face Icteric (+) , Ear : Normal
appereance ,Mouth : Sianosis (-), Nose: Normal appereance
Neck
No enlarge limp node (-)
Thorax
Ikteric (+), Symmetrical fusiformis. Retraksi (-).

)RR: 30 bpm, reguler. Crackles (-/-),
Abdomen

Spleen:Normal
3.
P: -
IVFD 0.5% NaCl 0,255% - 20 gtt/I micro

Urdafalk 3 x 20 mg
Folic acid 1 x 5 mg , 1x1 mg
Sistenol 3 x 80 mg
Diet Sv 550 kkcl + 18gr protein
August, 19th 2013

Head
Neck
Thorax
Icteric (+), Symmetrical fusiformi, Retracsi (-).

Abdomen

Spleen:Normal
3.
P: -

Urdafalk 3 x 20 mg
Folic acid 1 x 5 mg , 1x1 mg
Sistenol 3 x 80 mg
Plan
Check urine and feces , CRO, Procalcitonin
August, 20th 2013

O: Sens: CM, Temp: 36.9 oC
Head
Neck
Thorax
Ikteric (+), Symmetrical fusiformi, Retracsi (-).

Abdomen

Spleen:Normal
3.,
P: -

Urdafalk 3 x 20 mg
Nutricol 1 x 1 sachert
Sistenol 3 x 80 mg
Inj. Cefiazone 135 mg / 12 hour / iv ( 25mg/KgBB/x )
Plan:
Check Screening Hepatitis
MRI
Recommended by Module Gastroentro Hepatologi Anak
1- Check blood.urine,feces
2- Screening Hepatitis ( HBG Ag, HBs AB, HBcAB, Hbc AP, HCV AB, IgM Anti HAV,
Anti Hav total)
3- Check Bilirubin ( Bilirubin, SGOT/SGPT, ALP )
Result
USG Hepatobilier = Suspect Hepatitis
Laboratory Result:
August ,20th 2013
Hemoglobin (HGB)
Eritrosit (RBC)
Leukosit (WBC)
Hematokrit
Trombosit (PLT)
MCV
MCH
MCHC
RDW
MPV
PCT
PDW
LED
WBC Count
Neutrofil
Limfosit
Monosit
Eosinofil
Basofil
Neutrofil Absolut
Limfosit Absolut
Monosit Absolut
Eosinofil Absolut
Basofil Absolut
g%
106/ mm3
103/ mm3
%
103/ mm3
fL
Pg
g%
%
fL
%
fL
Mm/jam
10.10
3.49
13.69
30.50
699
87.40
28.90
33.10
14.50
10.60
0.74
11.7
65
11.1-14.4
3.71-4.25
6.0-17.5
35-41
217-497
82-100
24-30
28-32
14.9-18.7
7.2-10.0
%
%
%
%
%
103/L
103/L
103/L
103/L
103/L
36.20
45.40
12.30
5.70
0.400
4.96
6.21
1.69
0.78
0.05
37 80
20 40
28
16
01
2.4 - 7.3
1.7 - 5.1
0.2 - 0.6
0.10 - 0.30
0 - 0.1
<15
Laboratory Result: August 20th, 2013

Faal Hemostasis
PT + INR
Waktu Protombin
Control
Patient
INR
APTT
Control
Patient
Waktu Trombin
Control
Patient
D-Dimer
Ferritin
Besi (Fe/iron)
TIBC
Kimia Klinik
Hati
Bilirubin Total
Bilirubin Direct
Fosfatase alkali (ALP)
AST/SGOT
ALT/SGPT
Albumin
Metabolisme Karbohidrat
Glukosa Darah (sewaktu)
Ginjal
Ureum
Kreatinin
Asam Urat
Elektrolit
Kalsium (Ca)
Natrium (Na)
Kalium (K)
Klorida (Cl)
Magnesium (Mg)
Satuan
Hasil
Rujukan
Detik
Detik
13.20
15.1
1.16
Detik
Detik
32.2
42.0
Detik
detik
Ng/ml
Ng/ml
16.0
15.1
197
194.80
Mg/dl
Um/dl
53
313
< 500
Adult : 15-300
Child : 15-240
61-157
112-346
mg/dl
mg/dl
U/L
U/L
U/L
g/dl
9.04
8.54
989
66
55
3.7
<1
0-0.2
<462
<38
<41
3.8-5.4
Mg/dl
83.10
<200
Mg/dl
Mg/dl
Mg/dl
11.20
0.23
3.1
<50
0.17-0.42
<7.0
Mg/dl
mEq/dl
mEq/dl
mEq/dl
mEq/dl
7.3
136
5.1
108
2.31
8.4-10.8
135-155
3.6-5.5
96-106
1.4-1.9
Laboratorium Result : August 20th 2013

Jenis Pemeriksaan
satuan
Hasil
Rujukan
Keterangan
<0.05
<0.5ng/mL low
risk of septic
shock
Autoimmune
CRP Kualitatif
Positif
Test Lain
Procalcitonin
Ng/mL 0.16
>2.0ng/ml high
risk of septic
shock
August, 21th 2013
Head
Neck
Thorax

Abdomen

Spleen:Normal
3.,
P: -

Urdafalk 3 x 20 mg
Sistenol 3 x 80 mg
Plan:
MRI
Consult Pedsos
August, 22th 2013

Head
palpebra inferior (-/-), icteric (+/+) Face Icteric (+) Micro sefali ,
Ear : Normal appereance ,Mouth : Sianosis (-), Nose: Normal appereance
Neck
Thorax

HR: 124bpm, reguler, murmur (-)
Abdomen

Spleen:Normal
3.,
A: Cholestasis jaundice + Global Development delay + mikrosefali + suspect hepatitis
P: -

Urdafalk 3 x 20 mg
Sistenol 3 x 80 mg
Plan:
MRI
Laboratory Result: August 22nd, 2013

Immunoserologi
Jenis Pemeriksaan
Hepatitis
HBsAg
Satuan
Anti HBs
HBeAG
Hepatitis A Profile
Anti HAV Total
IU/L
Hepatitis C
Anti HCV
Hasil
Rujukan
Keterangan
Negatif
Negatif
Cut
Off
Index
>=1.0 :Positif
Negatif
Negatif
Negatif
Negatif
13.61
Negatif
Negatif <20
Positif >=20
Negatif
Negatif
Cut
Off
Index
>=1.0:Positif
August, 23th 2013

Head
Neck
Thorax

Abdomen

Spleen:Normal
3.,
P: -
Plan:
MRI

Urdafalk 3 x 20 mg
Sistenol 3 x 80 mg
Laboratory Result:
August 23rd 2013
Urinalysis
Complete Urine Test
Colour
Glucose
Bilirubine
Ketone
Berat Jenis
pH
Protein
Urobilinogen
Nitrit
Darah
Sedimen Urine
Eritrosit
Leukosit
Epitel
Casts
Kristal
Tinja
Makroskopik
Warna
Konsistensi
Darah
Lendir
Mikroskopik
Telur cacing
Amoeba
Eritrosit
Leukosit
LPB
LPB
LPB
LPB
LPB
Kuning Jernih
Negatif
Negatif
Negatif
1.010
6.5
Negatif
Negatif
Negatif
Negatif
Kuning
Negatif
Negatif
Negatif
1.005-1.030
5-8
Negatif
0-1
0-1
0-1
Negatif
Negatif
<3
<6
Kuning
Lembek
Negatif
Negatif
LPB
LPB
LPB
LPB
Negatif
Negatif
0-1
0-1
Negatif
Negatif
Negatif
Negatif
Negatif
Negatif
Negatif
August, 24th 2013

Head
Neck
Thorax

Abdomen

Spleen:Normal
3.,
P: -

Urdafalk 3 x 20 mg
Sistenol 3 x 80 mg
Plan:
MRI
Module Neurology
S: Head Small +=27<
O:Sens:CM T: 37 oC
RR: 36 bpm, reguler. Crackles (-/-)
A : Microcepali
P : MRI
August, 25th 2013

Head
Neck
Thorax

Abdomen

Spleen:Normal
3.,
P: -

Sistenol 3 x 80 mg
Plan:
MRI
1- Stop medicine hepatotoxic
2- Maintain Nutrihal or neutribls because patient allergy to urdafalk
3- Check Urine and feces
Result
Hbs Ag / Anti Hbs / Hbc Ag = Negative
Anti HAV =- 13.6
Anti HCV = Negative
Answer by consult Pedsos : Diagnosis Global Development Delayed

Recommend to stimulate hard motoric and soft motoric
August, 26th 2013

S: Yellowish skin colour on the whole body, Fever(-)
Head
Neck
No enlarged limp node (-)
Thorax

Abdomen
Icteric (+), symmetrical, Decreased tenderness, Peristaltic (-).Liver: palpable

2 cm from costal margin, sharp edge, flat surface, Pain(-) Spleen:Normal
3
P: - IVFD 0.5% NaCl 0,255% - 20 gtt/I micro

- O2 1-2 l/I nasal canule
- Sistenol 3 x 80 mg
- Diet Sv 550 kkcl + 11gr protein
- Inj. Cefiazone 135 mg / 12 hour / iv ( 25mg/KgBB/x )
- Nutricol 1x1 sachet
Plan:
Stop medicine hepatotoxic

1- Stop medicine hepatotoxic
August, 27th 2013

Head
Neck
Thorax

Abdomen

Spleen:Normal
3.,
A: Cholestasis jaundice + Global Development delay + mikrosefali +
P: IVFD 0.5% NaCl 0,255% - 20 gtt/I micro

- Diet Sv 550 kkcl + 11gr protein
- Nutrical 1x1 sachet
- Colistivamin 1x2gr
Plan:
Result
MRI Brain : Hemiatrophy Dextra
August, 28th 2013

Head
Neck
Thorax

Abdomen

Spleen:Normal
3.,
A: Cholestasis jaundice + Global Development delay + Hemiatrophy Dextra
P: -
Plan:

Sistenol 3 x 80 mg
Module Gastroentro Hepatologi Anak

1. Confirmation to Neuro about the MRI results
Result
Urinalysis results
Colour : Yellow
Glucose/Bil/Ket/BJ/pH/Protein/Urobilinogen/NH/Darah
-/-/-/1,010/6.5/-/-/-/-
Urine Sedimentation
Eri/Leu/Epi/Cosdasdasdt/Crystal
0-1/0-1/0-1/-/-/
Feces is normal
August, 29th 2013

S: Yellowish skin colour on the whole body reducing, Fever(-)
O: Sens: CM, Temp: 37 oC Body weight :6.3kg
Head
Neck
Thorax

Abdomen

Spleen:Normal
3.,
P: -

Sistenol 3 x 80 mg
Inj GEntamycin 30mg/12hours/IV (5mg/kgbb)H3
Plan:
Continuation of the medication
August, 30th 2013

S: Yellowish skin colour on the whole body reduces, Fever(-)
Head
Neck
Thorax

Abdomen

Spleen:Normal
3.,

- Diet Sv 700 kkcl + 14 gr protein
- Inj Gentamycin 30mg/12hours/IV (5mg/kgbb)H3
Plan:
Result
Blood culture results (24/8/2013)
-suspected MRSA
August, 31th 2013

S: Yellowish skin colour on the whole body reduces, Fever(-)
Head
Neck
Thorax

Abdomen

Spleen:Normal
3.,
P: -

Sistenol 3 x 80 mg
Inj Gentamycin 30mg/12hours/IV (5mg/kgbb)H3
Nutricol 1x1 sachet
Plan:
Results
Nasal swab culture
Nose- Klebsialla pneumoni ESP +
Staphylococcus epeidonfainfi
Ceftriaxon resistence screening test
Dugaan MRSE
Sensitive
antibiotics
Amoxycilin,
Etramycin,
Ciprofloxacin,Levofloxacin,
Textracyclin,Tigecyclin,
September, 1st 2013

S: Yellowish skin colour on the whole body, Intermitten Fever(+)
O: Sens: CM, Temp: 37.5 oC 38.0C
Head
Neck
Thorax

Abdomen

Spleen:Normal
3.,

- Inj Gentamycin 30mg/12hours/IV (5mg/kgbb)H3
Plan:
Result
September, 2nd 2013

S: Yellowish skin colour on the whole body reduces, Fever (-)
O: Sens: CM, Temp: 36,8 oC Body weight : 6.5kg
Head
Neck
Thorax

Abdomen

Spleen:Normal
3.,
A: Cholestasis jaundice + Global Development delay + Hemiatrophy Dextra + suspect MRSE

-

Sistenol 3 x 80 mg
Diet Sv 700 kkcl + 14 gr protein
-Inj Gentamycin
-Nutricol 1x1 sachet
Plan:
Continuation of the medication
Result
Hb/HT/L/I : 10.9/30.9/116.20/599.00
PT/INH/APTT/TT : 195/1.55/60.5/15.3
Bil TOT/Diver/AIP/ SGOT/PT/Albumin : 7.96/7.77/1077/48/32/3.8
Laboratory Result: September 2th, 2013

Faal Hemostasis
PT + INR
Waktu Protombin
Control
Patient
INR
APTT
Control
Patient
Waktu Trombin
Control
Patient
Kimia Klinik
Hati
Bilirubin Total
Bilirubin Direct
Fosfatase alkali (ALP)
AST/SGOT
ALT/SGPT
Albumin
Satuan
Hasil
Detik
Detik
13.10
19.5
1.55
Detik
Detik
31.2
60.5
Detik
detik
15.9
15.3
mg/dl
mg/dl
U/L
U/L
U/L
g/dl
7.96
7.77
1077
48
32
3.8
Rujukan
<1
0-0.2
<462
<38
<41
3.8-5.4
Laboratory Result:
September ,2th 2013
Hemoglobin (HGB)
Eritrosit (RBC)
Leukosit (WBC)
Hematokrit
Trombosit (PLT)
MCV
MCH
MCHC
RDW
WBC Count
Neutrofil
Limfosit
Monosit
Eosinofil
Basofil
Neutrofil Absolut
Limfosit Absolut
Monosit Absolut
Eosinofil Absolut
Basofil Absolut
g%
106/ mm3
103/ mm3
%
103/ mm3
fL
Pg
g%
%
10.40
3.50
11.66
30.40
549
86.90
29.70
34.20
15.10
11.1-14.4
3.71-4.25
6.0-17.5
35-41
217-497
82-100
24-30
28-32
14.9-18.7
%
%
%
%
%
103/L
103/L
103/L
103/L
103/L
34.70
47.10
16.90
0.20
1.100
4.06
5.05
1.97
0.02
0.13
37 80
20 40
28
16
01
2.4 - 7.3
1.7 - 5.1
0.2 - 0.6
0.10 - 0.30
0 - 0.1
September, 3th 2013

Head
Neck
Thorax

Abdomen

Spleen:Normal
3.,

- Nutricol 1 x 1 sachert
- Ibuproven 3 x 80 mg
- Physiotherapy
Plan:
Recheck USG Hepato Bilier

-
Colistivamin 1x2gr
Result
Culture Swab Throat : Klebsiella pneumoni ESBL (+)
Sensitivity
Antibiotic
Amoxycilin,
Etramycin,
Ciprofloxacin,Levofloxacin,
Textracyclin,Tigecyclin,
September, 4st 2013

Head
Neck
Thorax

Abdomen

Spleen:Normal
3.,

- Inj Gentamycin 30mg/12j/iv H10
Plan:
Recheck USG Hepato Bilier
Recheck Blood culture
September, 5st 2013

Head
Neck
Thorax

Abdomen

Spleen:Normal
3.,

Plan:
USG Hepato Bilier
September, 6st 2013

Head
Neck
Thorax

Abdomen

Spleen:Normal
3.,


-
Nutricol 1x1 sachet aff

Zinc 1 x 10 mg
Colestinamin aff
Urdafalk 3 x 28 mg
Plan : Check IgM CMV

Immunoserology
Virus
Anti Toxoplasma IgG
Satuan
IU/mL
Hasil
98.7
Rujukan
Negative
Anti Toxoplasma IgM
IDU
1.1
Negative
Anti Rubella IgG
IU/mL
1.3
Anti Rubella IgM
IDU
1.7
Anti CMV IgG
U/ml
13.2
Non
Reactive
Anti CMV IgM
COI
3.4
Non
Reactive
Keterangan
Negative<32 IU/mL
Positive>=32 IU/mL
Negative < 10 IDU
Positive >= 10 IUD
Negative < 13.5 IU/mL
Positive 15 IU/mL
Negative < 0.9
Equivocal : 0.91 0.99
Positive >= 1.0
Non Reactive < 0.5 U/mL
Inderterminate >= 10 U/mL
Reactive >=1.0U/mL
Non Reactive < 0.7 COI
Inderterminate >= 0.7 - < 1.0
COI
Reactive >= 1.0 COI
September, 7st 2013

Head
Neck
Thorax

Abdomen

Spleen:Normal
3.,
P: -

Sistenol 3 x 80 mg
Inj Gentamycin 30mg/12j/iv H10
Nutricol 1x1 sachet
Urdafalk 3 x 28 mg
Zinc 1 x 10 mg
Plan:

Inj gentamycin replace by ceflozidime 150/12j/iv skin test
Check UGT , comb test, reticulosit
September, 8st 2013

Head
Neck
Thorax

Abdomen

Spleen:Normal
3.,
P: -

Sistenol 3 x 80 mg
Nutricol 1x1 sachet
Urdafalk 3 x 28 mg
Zinc 1 x 10 mg
September, 9st 2013

S: Yellowish skin colour on the whole body, Fever(-), Diarrhea (+)
Head
Neck
Thorax

Abdomen

Spleen:Normal
3.,
P: -

Sistenol 3 x 80 mg
Nutricol 1x1 sachet
Urdafalk 3 x 28 mg
Zinc 1 x 10 mg
Plan:
Check UGT , Comb test, retikulosit, LFT,
CT Scan Abdomen
Lumbar Punture

Liver Function Test
Bilirubin Total
Bilirubin Direct
Phosphatase Alkali (ALP)
AST/SGOT
ALT/SGPT
y-Gt
Mg/dl
Mg/dl
U/L
U/L
U/L
U/L
14.80
13.58
870
52
44
18
<1
0-0.2
<462
<38
<41
10-66
g%
106/ mm3
103/ mm3
%
103/ mm3
fL
Pg
g%
%
10.00
3.42
17.69
28.60
606
83.60
29.20
35.00
16.00
12.0-14.4
4.75-4.85
4.5- 13.5
36 42
150-450
75-87
25-31
33-35
11.6 14.8
%
%
%
%
%
103/L
103/L
103/L
103/L
103/L
24.10
60.10
13.50
1.10
1.200
4.32
10.75
2.42
0.19
0.21
37 80
20 40
28
16
01
2.4 - 7.3
1.7 - 5.1
0.2 - 0.6
0.10 - 0.30
0 - 0.1
Laboratory Result:
September,9th 2013
Hemoglobin (HGB)
Eritrosit (RBC)
Leukosit (WBC)
Hematokrit
Trombosit (PLT)
MCV
MCH
MCHC
RDW
WBC Count
Neutrofil
Limfosit
Monosit
Eosinofil
Basofil
Neutrofil Absolut
Limfosit Absolut
Monosit Absolut
Eosinofil Absolut
Basofil Absolut
September, 10st 2013

S: Yellowish skin colour on the whole body, Fever(-),Diarrhea (+)
Head
Neck
Thorax

Abdomen

Spleen:Normal
3.,

- Zinc 1 x 10 mg

S: Yellowish skin colour on the whole body, Fever(-),
Head
Microcephalic ,Eye : Light reflexes(+/+), isochoric pupil, pale conjunctiva
Neck
Thorax
Icteric (+), Symmetrical fusiformi, Retraction (-).

HR: 120 bpm, regular, murmur (-)
RR: 26 bpm, regular. Crackles (-/-),
Abdomen

Spleen:Normal
3.,
P: -

Sistenol 3 x 80 mg
Nutricol 1x1 sachet
Zinc 1 x 10 mg
Inj Gancyelovir 5mg/kgBB/12jam for 14 days
Plan
Scantigraphy hepatobilier

Head
Neck
Thorax

Abdomen

Spleen:Normal
3.,
P: -

Sistenol 3 x 80 mg
Nutricol 1x1 sachet
Zinc 1 x 10 mg
Divisi Infection and Tropical Disease

S: Fever(+) Yellowish skin colour on the whole body
Sens : CM T:37.3 oC
Thorax : SF, retraksi (-)
RR: 26 bpm, regular. Crackles (-/-)
A/ CMV + Rubella Congenital
P/ Inj Gecyclovir 30mg/12jam/iv 14days
Plan
Scantigraphy hepatobilier

O: Sens: CM, Temp: 36,9 oC
Head
Neck
Thorax

Abdomen

Spleen:Normal
3.,
A: Cholestasis jaundice + Global Development delay + Hemiatrophy Dextra + CMV + Rubella

Congenital
P: -

Sistenol 3 x 80 mg
Nutricol 1x1 sachet
Zinc 1 x 10 mg
Divisi Infection and Tropical Disease

S: Fever(+) Yellowish skin colour on the whole body
Sens : CM T:37.3 oC
Thorax : SF, retraksi (-)
RR: 30 bpm, regular. Crackles (-/-)
A/ CMV + Rubella Congenital + Cholestasis + GDD
P/ Inj Gecyclovir 30mg/12jam/iv 14days

Head
Neck
Thorax

Abdomen

Spleen:Normal
3.,
P: -

Sistenol 3 x 80 mg
Nutricol 1x1 sachet
Zinc 1 x 10 mg

Head
Neck
Thorax

Abdomen

Spleen:Normal
3.,

-

Sistenol 3 x 80 mg
Nutricol 1x1 sachet
Zinc 1 x 10 mg

Head
Neck
Thorax

Abdomen

Spleen:Normal
3.,
P: -

Sistenol 3 x 80 mg
Nutricol 1x1 sachet
Zinc 1 x 10 mg
CHAPTER 4
DISCUSSION
Hospital acquired malnutrition refers to the nutrient imbalance acquired during
hospitalization. the mechanism of nutrient imbalance includes decreased nutrient intake,
altered utilization, increased nutrient losses or increased nutrient requirement not matched by
the intake
In this case, the patient was admitted with yellowish pigmentation throughout the whole
body, which is cholestasis jaundice. Further investigation revealed that the patient was also
suffering from Global Developmental Delay, Cytomegalovirus infection and also congenital
rubella infection. This patient has a high risk to suffer from malnutrition during the hospital
stay as the underlying diseases increase the requirement of nutrients and promotes a nutrient
wasting catabolic state. however, despite having a high risk to suffer from hospital acquired
malnutrition, the patient's body weight did not record any significant weight loss or gain.
In this section, we shall discuss on the relationship between the underlying diseases, the
nutrient intake and the nutritional state of the patient. before continuing further on the
discussion, it is crucial to analyze the body weight, height and the nutritional state of the
patient during his first visit to the hospital
The analysis shows that for length for age chart, the patient is has a z-score of less that -3.
This indicates the patient is below the optimal length for his age which is 74cm. According
the weight for age chart, the patient has a z-score of less that -3. This indicates the patient is
underweight, below the optimal weight for his age, which is 9.5kg. However, analyzing the
weight for height chart, it shows that the patient has a z-score of 0. This shows that the patient
has an optimal weight for his length, even though both are not optimal for his age. The
analysis indicates a developmental delay in this patient.
During the patient's stay in the hospital, the patient's daily body weight and height was
recorded and represented in the graph below.
Height
70
60
Centimeters
50
40
30
20
10
0
Height, 58
Body Weight
6
Kilograms, 5.5
5
Kilograms
4
3
2
1
0
Based on the graph, the body weight was at a constant 5.5kg despite the underlying diseases
the patient is suffering from. The length of the patient did not record any significant changes
at all and remained at a constant even though it is not proportional to the normal growth that
should have taken place.
Now, let us discuss about the nutrient intake of the patient. The patient's daily diet included
Pregestimil milk powder and porridge. The nutrient content in one scoop of Pregestimil milk
powder is :
Amount
Weight
Energy
Protein
Fat
Choline
(scoop)
(gram)
(Cal)
(gram)
(gram)
(gram)
9.7
68
1.9
2.7
9.1
19.4
136
3.8
5.4
18.2
According to the patient's mother, the patient is given 2 scoops of Pregestimil every 2 hours a
day. If we calculated that the patient is given milk 10 times a day, the amount of nutrient
intake per day is approximately:
Amount
Weight
Energy
Protein
Fat
Choline
(scoop)
(gram)
(Cal)
(gram)
(gram)
(gram)
20
194
1360
38
27
91
This surpasses the recommended dietary intake of the patient which is 750cal and 14gr of
protein. In addition to that, the patient is also given porridge three times a day . The patient is
also given Nutricol supplement. The content of Nutricol are Pure lecitin (PPC 95 %) 300 mg,
vitamin B1 0.7 mg, vitamin B2 0.9 mg, vitamin B6 1 mg, vitamin B12 0.7 mcg, vitamin E 5
mg, nicotinamide 7.6 mg, protein 1.5 g, carbohydrate 6 g, cocoa Powder 1 g, wheat flour
1.184 g.
This shows that in a normal person, the intake causes excessive nutrient . however in this
patient, it is proven sufficient to maintain the body weight of the patient without being
subjected to malnutrition.
Focusing on cholestasis jaundice, long chain fatty acids are not well absorbed and this leads to
malnutrition and fat-soluble vitamin deficiency. Medium chain triglycerides (MCT) are
more readily absorbed and are a better source of fat calories. These infants should be started on
a formula containing MCT like Pregestimil or Alimentum. If oral intake is not sufficient,
patients may be started on nocturnal enteral feeds. Due to steatorrhea and increased
energy expenditure, the caloric intake goal should be 125% of recommended
dietary
allowance based on ideal body weight. Some infants may need additional calories for
catch-up growth if there is already significant malnutrition present. The intestinal absorption
of fat-soluble vitamins (A, D, E and K) requires the presence of bile acids. Doses of at least
two to four times the recommended daily allowance are given. Vitamin supplementation
should continue at least 3 months after resolution of jaundice.
The patient is also suffering from cytomegalovirus infection and congenital rubella
infection. C-negative protein was tested and turned out positive indicating active
inflammation. Inflammatory conditions may increase requirements for nutrients while
promoting a nutrient-wasting catabolic state. Illness-related malnutrition is associated with an

inflammatory component. Inflammation promotes skeletal muscle breakdown, mediated by a
cytokine-driven pathway. The acute phase inflammatory response is associated with elevated
resting energy expenditure and nitrogen excretion and thereby energy and protein
requirements, respectively. Nutrition supplementation alone only partly reverses or prevents
muscle protein loss in active inflammatory states. The anorexia that accompanies
inflammation will promote further loss of lean tissue if nutrition intake is inadequate. Over
the past decade, it has become increasingly evident that the pathophysiology of disease or
injury-associated malnutrition invariably includes acute or chronic inflammation that affects
body composition and biological function.
The inflammatory condition may be short-lived or chronic in nature with the severity being
influenced by the progression and extent of underlying illness/disease condition. Loss of
muscle mass and function may occur insidiously in the chronic disease state over months to
years. It is important to recognize the presence or absence of a systemic inflammatory
response in the malnourished state, as it affects the response to intervention. In the absence of
inflammation, as seen in malnutrition due to starvation, appropriate nutrient interventions
may be successful in treating malnutrition. On the other hand, the presence of inflammation
may limit the effectiveness of nutrition interventions, and the associated malnutrition may
compromise the clinical response to medical therapy. If inflammation is present, then it is
useful to clarify whether it is mild, moderate, or severe and transient or sustained. The
recently proposed adult malnutrition definition has suggested that acute diseaserelated
malnutrition is probably associated with a severe degree of inflammation and chronic diseaserelated malnutrition with a mild to moderate degree of inflammation.
In conclusion, despite the patient being high at risk to suffer from hospital acquired
malnutrition, the nutrition intake was adequate to prevent the patient from being severely
malnutrition.
CHAPTER 4
DAFTAR PUSTAKA
1. Waterlow JC. Classication and denition of protein-calorie malnutrition. Br Med J

1972; 3:566569.
2. WHO. Management of severe malnutrition: a manual for physicians and other senior
health workers. Geneva: World Health Organization; 1999.
3. Hendricks KM, Duggan C, Gallagher L, et al. Malnutrition in hospitalized pediatric

patients. Current prevalence. Arch Pediatr Adolesc Med 1995; 149:11181122.
4. Moy R, Smallman S, Booth I. Malnutrition in a UK childrens hospital. J Hum Nutr

Diet 1990; 3:93100.
5. Cameron JW, Rosenthal A, Olson AD. Malnutrition in hospitalized children with

congenital heart disease. Arch Pediatr Adolesc Med 1995; 149:10981102
6. Pawellek I, Dokoupil K, Koletzko B. Prevalence of malnutrition in paediatric hospital

patients. Clin Nutr 2008; 27:7276
7. Dogan Y, Erkan T, Yalvac S, et al. Nutritional status of patients hospitalized in

pediatric clinic. Turk J Gastroenterol 2005; 16:212216.
8. Sermet-Gaudelus I, Poisson-Salomon A, Colomb V, et al. Simple pediatric

nutritional risk score to identify children at risk of malnutrition. Am J Clin Nutr 2000;
72:6470.
9. Secker DJ, Jeejeebhoy KN. Subjective global nutritional assessment for children. Am
J Clin Nutr 2007; 85:10831089.
10. Sridevi Venigalla, MD, and Glenn R. Gourley, MD Neonatal Cholestasis, 2004

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CHAPTER 1

2.1. HOSPITAL ACQUIRED MALNUTRITION

statistical classification of disease

problems used weight, expressed as SD scores, to define the probability of malnutrition.

2 SD. A child with a SD score between

and a SD score below 3 as severe

Acute malnutrition (severe and moderate) is defined as one of the following:

WFH SD score less than 2,

WFH less than 80% of the median,

% ideal body WFH less than 80,

WFH less than 5th percentile,

BMI SD score less than 2.

Chronic malnutrition is defined as:

Height for age (HFA) SD score less than

HFA less than 90% of the median,

HFA less than 5th percentile.

Hospital acquired malnutrition refers to nutrient imbalance acquired during hospitalization

cardiomyopathy) showed prevalence rates between

18 and 64% on admission.

of lung function are interrelated and inter- dependent. Substantial

improvements in medical management including nutritional therapy have been made.

decreased tolerance to chemotherapy. Although malnutrition is not uniformly found in

and multiple relapse

leukemia). Furthermore, marked differences in the prevalence of malnutrition will be

9.1% acute malnutrition (<80% WFH) in patients with pediatric

admission. In a study3 among 1033 patients with acute lymphoblastic leukemia, it is

of about 7% malnutrition (BMI <

2 SD). Another study observed

insufficiency using WFA SDS score less than 2.

increased awareness of the significance of adequate nutritional support, it is found t h a t

2 SD)6. There was a

On discharge, on average for the preterm and term neonates together,

had increased to 26 and 48%, respectively,

and growth is often seen in children

of mentally retarded children on the basis of anthropometric variables. The

disease. In children with chronic

inflammatory state. IL-6 concentrations may be an important marker of early inflammatory

nutritional depletion needs to be identified at the time of admission so that appropriate

children at risk of malnutrition.

with weight loss of more than 2%. These significant risk

for grade 3 pathologic condition) and add up to a

led to a global assessment of the patients nutritional status, assigning a

global rating of well nourished, moderately malnourished, or severely malnourished.

Progressive familial intrahepatic cholestasis

3.1.4 CLINICAL PRESENTATIONS

physical examination should be reevaluated at 3

4.1 GLOBAL DEVELOPMENTAL DELAY

Other causes of developmental delays include these:

Measured by both intelligence and adaptive behavior measures, approximately 1 percent of

Psychotherapy and psychiatric therapy. Broadly speaking, psychological therapy

: Augusts, 16th 2013

: Microcephalic Eye : Light reflexes(+/+), isochoric pupil, conjunctiva

: Lymph node enlargement (-)

: Icteric (+) Symmetrical fusiformis. Epigastria retraction (-).

: Distention (+), symmetrical, Decreased tenderness, Peristaltic

: Pulse 152 bpm, regular, adequate pressure and volume, warm

: Cholestasis Jaundice + Global Development delay + Microchepaly

Diffential Diagnosis : - Cholestasis Jaundice + Global Development Delay + Microchepaly

: IVFD D 5% NaCl 0.2 25% 20gtt/I micro

Ikteric (+), Symmetrical fusiformis. Retracsi (-).

Icteric (+), symmetrical, Decreased tenderness, Peristaltic (-). Liver:

A: Cholestasis jaundice + Global Development delay + mikrosefali

O2 1-2 l/I nasal canule

GK DL, LED, HST, RFT, LFT, Urinalisa