PEDIA CPC
CASE PRESENTATION
BLOCK 4
CARISSA ESGUERRA
IAN CARLANN DICKA
ROSCEL CRISTIE DOLINO
LIZLOTTE CARIÑO
• GENERAL DATA: 12-month-old male, Caucasian
• CHIEF COMPLAINT: Failure to thrive
• MATERNAL AND BIRTH HISTORY:
Term
Birth weight = 2,688 g
No prenatal complications.
• FAMILY HISTORY:
- Both parents are 172.5 cm (5 feet 9 inches) tall
- No family history of growth failure
• NUTRITIONAL HISTORY:
- Was fed formula
- Had a variable eating pattern with early satiety,
- Consuming approximately 90 kcal/kg per day.
- Despite ingestion of high-calorie supplements, his growth
velocity has continued to be poor.
- He has no vomiting and diarrhea and has been healthy.
• GROWTH AND DEVELOPMENTAL HISTORY:
- He remained at the 5th percentile of growth until
approximately 6 months of age, when both his weight
and height percentiles declined significantly.
- Motor, language, and cognitive development have
been normal.
PHYSICAL EXAMINATION
General survey:
Well-appearing, charming child, obviously small for his age.
Head:
(+) triangular face, with a
(+) prominent forehead,
(+) hypertelorism, and
(+) turned-down mouth corners.
Extremities: (+) Bilateral syndactyly of the second and third toes
Findings on the remainder of the physical examination are normal.
Height 67 cm 50th percentile for a 5-month-old
Weight 6.43 kg 50th percentile for a 4-month-old
Head 44.5 cm 5th percentile
circumference
CHIEF COMPLAINT
• Skin rashes
LABORATORY EVALUATIONS
• Electrolytes • Urinalysis
• CBC • Fecal Fat Assay
• ESR • Sweat Test
• Albumin Level • Chromosomal Pattern
• Thyroid and Liver Function
• Immunoglobulin Levels
All of which were
• Endomysial Antibodies
NORMAL.
LABORATORY EVALUATIONS
• Insulin-like growth factor (IGF-1) level
= 59 ng/mL
(NV = 17 - 248 ng/mL)
• Bone age is delayed by 1.5 standard
deviations of normal.
Follow-up at 18 months of age:
• Growth parameters are unchanged
- despite being on a milk-free diet and
receiving continued caloric supplementation.
• Right hand and foot: slightly larger than his left
• Radiographs of both hands and forearms were
obtained.
SALIENT FEATURES
Triangular face Short stature
Prominent forehead Growth failure
Turned-down mouth corners Feeding difficulty
Bilateral syndactyly of the
second and third toes
DIFFERENTIAL DIAGNOSIS
Progeria
Mulibrey Nanism
Russell Silver Syndrome
DIFFERENTIAL DIAGNOSIS 1: PROGERIA
RULE IN RULE OUT
Growth failure (-) downturned mouth
Short stature (-) skeletal anomalies
Triangular face (-) syndactyly
Prominent forehead (+) microstoma
Feeding difficulties
DIFFERENTIAL DIAGNOSIS 2: MULIBREY NANISM
RULE IN RULE OUT
Progressive growth failure (-) downturned mouth
Triangular face (-) skeletal anomalies
Prominent forehead (-) syndactyly
Feeding difficulties (+) low nasal bridge
(+) hepatomegaly
DIFFERENTIAL DIAGNOSIS 3:
RUSSELL SILVER SYNDROME
RULE IN RULE OUT
Growth retardation CAN NOT BE RULED OUT
Short in stature
Triangular face
Prominent forehead
Limb assymetry
Downturned mouth
Skeletal anomalies
Syndactyly
WORKING IMPRESSION:
RUSSELL-SILVER SYNDROME
• DISCUSSION:
Russell-Silver syndrome (RSS)
- is a rare condition associated with
poor growth both before and after birth.
- It is originally was described by Silver and
colleagues in 1953 and, soon afterwards, by
Russell in 1954.
RUSSELL-SILVER SYNDROME
• Characterized by intrauterine and postnatal growth retardation leading to:
small-for-gestational-age (SGA) infant at birth,
feeding difficulties during infancy,
short stature,
body asymmetry,
a relatively large head size
Characteristic triangular facies with prominent forehead,
and several other anomalies.
The majority of individuals with RSS are of normal intelligence,
but motor and/or speech delay is common.
EPIDEMIOLOGY
• Estimated incidence:
• as high as 1 case in 3000 population to
• as low as 1 case in 100,000 population
• Male-to-female ratio is equal.
• Most cases are sporadic (not usually inherited)
• occurring in people with no family history of RSS.
• Rarely, RSS may be inherited.
• In some families, it appears to be inherited in an autosomal
dominant manner
PATHOPHYSIOLOGY
Genetic causes:
Hypomethylation of the telomeric imprinting centre region 1 (ICR1) in
chromosome 11p15
Maternal disomy of chromosome 7 (written as matUPD7) occurs
-wherein a child inherits both copies of chromosome 7 from the mother,
instead of one copy from the mother and one copy from the father.
• Growth failure is the primary abnormality
• Facial dysmorphism is observed, with small triangular facies and normal head
circumference.
• Because length usually is less than normal, the head appears disproportionately large.
CLINICAL MANIFESTATION
• Russell-Silver syndrome is usually diagnosed clinically
using the Netchine-Harbison RSS Clinical Scoring
System.
• Clinical diagnosis is considered if a patient scores at
least four of six from these criteria.
• The criteria include:
CRITERIA DEFINITION
SGA (birth weight and/or birth length) ≤−2 SDS for gestational age
Postnatal growth failure Height at 24 ± 1 months ≤−2 SDS or height ≤−2 SDS below
mid-parental target height
Relative macrocephaly at birth Head circumference at birth ≥1.5 SDS above birth weight
and/or length SDS
Protruding forehead Forehead projecting beyond the facial plane on a side view
as a toddler (1–3 years)
Body asymmetry LLD of ≥0.5 cm or arm asymmetry or LLD <0.5 cm with at least
two other asymmetrical body parts (one non-face)
Feeding difficulties and/or low BMI BMI ≤−2 SDS at 24 months or current use of a feeding tube or
cyproheptadine for appetite stimulation
MANAGEMENT
• Medical home with a multidisciplinary care facility
including:
clinical genetic counselors;
dietitians and gastroenterologists, for feeding issues
and failure to thrive;
endocrinologists for short stature and puberty;
speech therapists for delay; and
orthopedists for scoliosis
MANAGEMENT
• Early intervention with recombinant human growth
hormone (rhGH) for maximizing final adult height
• GH given via daily subcutaneous injections.
• Recommended starting dose is 0.24 mg/kg/wk,
but the dose can be titrated up to 0.48 mg/kg/wk.
MANAGEMENT
• Development
- Early intervention program, including physical therapy, is beneficial.
- Special education courses are needed when the child is older.
• Surgical Care
- Consider enteral feeding if the patient does not tolerate oral
feeding and has severe failure to thrive.
- Nasogastric or percutaneous endoscopic gastrostomy (PEG) feeds
are needed to facilitate growth and maintenance.
PROGNOSIS
• Long-term outlook is generally good,
- but may depend on how severely affected a person is and
- whether complications arise
• Possible increased risks for certain health issues in adulthood
include:
• Metabolic Syndrome
• Uterine and Vaginal Dysgenesis
• Gonadal Hypofunction or Testicular Cancer
• Low Muscle Mass or Low Bone Mineral Density
• Myoclonus Dystonia