Poor Weight Gain - Case 6-2: 7-Month-Old Boy
I. History of Present Illness
A 7-month-old white boy was admitted for evaluation of FTT. The patient was a
former twin B who was born at 37 weeks
' gestation. The mother's pregnancy was uncomplicated, and the patient did well until 3 months of age.
At that time, he had bilateral inguinal hernia repair. Since then, he had not
been gaining weight. His stools were loose and foul smelling and occurred six
to seven times per day. There was no history of fevers or vomiting, and his
appetite was described as greater than that of his twin brother, who was
thriving.
II. Past Medical History
He was a former 37-week twin B of an uncomplicated pregnancy, labor, and
delivery. The mother denied any sexually transmitted diseases. The child took
no medications, had no allergies, and was up to date in immunizations. The
family history was remarkable for a father with diabetes. The child lived with
his mother, father, twin, and 3-year-old sister. Both siblings were healthy.
Developmentally, the child was unable to sit unassisted, had not rolled over,
and still had some head lag on repeated testing.
III. Physical Examination
T, 37.2°C; RR, 20/min; HR, 110 bpm; BP, 78/50 mm Hg
Height, less than 5th percentile; weight, is much less than 5th percentile
In general, the child was emaciated but interactive. His head was normocephalic,
and hi pupils were equal round and reactive to light. The sclerae were
anicteric. The tympanic membranes were normal in appearance and mobility. The
neck was supple with free range of motion. There were no enlarged lymph nodes
or palpable masses. The chest was clear bilaterally. There were no murmurs,
gallops, or rubs on cardiovascular examination. The abdomen was soft,
nontender, and nondistended with positive bowel sounds. There was no
hepatosplenomegaly or masses. The genitalia were normal. There was
clinodactyly. Neurologic examination showed global weakness and head lag. The
skin had a fine erythematous macular rash over the extremities.
IV. Diagnostic Studies
Complete blood count revealed 1,000 WBCs/mm3 (2% band forms, 8% segmented neutrophils, 81% lymphocytes, and 9% monocytes);
hemoglobin, 2.2 g/dL; platelets, 180,000/mm
3. Serum electrolytes were as follows: sodium, 138 mEq/L; potassium, 3.6 mEq/L;
chloride, 103 mEq/L; and bicarbonate, 22 mEq/L. The serum albumin concentration
was 4.2 mg/dL. The prothrombin time (PT) and the partial thromboplastin time
(PTT) were 12.5 and 31.0 seconds, respectively. A sweat test was normal.
V. Course of Illness
The patient was evaluated for malabsorptive stool pattern. He was shown to have
increased fecal fat and evidence of pancreatic insufficiency. This finding in
conjunction with findings on physical examination and the complete blood count
suggested a diagnosis.
Discussion: Case 6-2
I. Differential Diagnosis
The differential diagnosis of growth failure due to malabsorption is a long one.
Once the type of malabsorption was narrowed down to exocrine pancreatic
dysfunction, then the differential narrowed to hereditary and acquired causes.
The hereditary causes include cystic fibrosis, Shwachman-Diamond syndrome,
Pearson
's pancreatitis and bone marrow syndrome, and isolated enzyme deficiency.
Acquired causes include chronic pancreatic and surgical conditions.
Other causes of malabsorption are many and include defects in the luminal phase,
the mucosal phase, or the transport phase of absorption and digestion. Table
6-4 shows tests that may be used to evaluate the various forms of
malabsorption.
II. Diagnosis
The presence of neutropenia and a skeletal abnormality (clinodactyly) in
conjunction with pancreatic insufficiency suggested the diagnosis of
Shwachman-Diamond syndrome.
The diagnosis is Shwachman-Diamond syndrome, the second most common cause of
hereditary pancreatic insufficiency after cystic fibrosis.
The stool pattern and growth pattern are similar to those of cystic fibrosis,
but patients with Shwachman-Diamond syndrome have additional features, which
often include short stature with a normal growth pattern. Skeletal deformities
have been noted in the thorax and fingers. Some children manifest bone marrow
dysfunction, which most often causes neutropenia and frequent infections but
may also lead to anemia and thrombocytopenia.
III. Incidence and Epidemiology
Shwachman-Diamond syndrome appears to be caused by an autosomal recessive gene.
The overall incidence is not known.
IV. Diagnostic Approach
The diagnostic approach is similar to that for a child with cystic fibrosis; the
sweat test is normal, but some of the other distinguishing features may be
present. There is no single laboratory marker. Shwachman-Diamond syndrome is a
clinical phenotype with central features of pancreatitis and bone marrow
dysfunction. Other causes of pancreatic dysfunction must be eliminated.
Patients with Shwachman-Diamond syndrome may have a complete blood count with
neutropenia, but the platelet count may be low or normal. The PT, PTT, amylase,
and lipase values may also be elevated. Bone marrow may show hypoplasia with
fibrosis.
V. Treatment
Treatment includes enzyme replacement and nutritional support. Careful attention
should be paid to vitamin therapy of the fat-soluble vitamins and treatment for
infections and other hematologic manifestations. The response to treatment is
good in most cases. Patients may be prone to infections due to the neutropenia.
Some patients may also develop acute myelogenous leukemia (AML).
VI. References
1. Mark DR, Forstner GG, Wilchanski M, et al. Shwachman syndrome: exocrine
pancreatic dysfunction and variable phenotypic expression.
Gastroenterology 1996;111:1593–1602.
2. Baldassano R, Liacouras C. Chronic diarrhea: a practical approach for the
pediatrician.
Pediatr Clin North Am 1991;38:667–674.
3. Rothbaum R, Perrault J, Vlachos A, et al. Shwachman-Diamond syndrome: report
from an international conference.
J Pediatr 2002;14:266–270.
Pictures
Book Source Details
- Book Title: Pediatric Complaints and Diagnostic Dilemmas
- Author(s): Samir S Shah MD; Stephen Ludwig MD
- Year of Publication: 2003
- Copyright Details: Pediatric Complaints and Diagnostic Dilemmas, Copyright © 2003 Lippincott Williams & Wilkins.
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Copyright Details: Pediatric Complaints and Diagnostic Dilemmas, Copyright © 2008 Williams & Wilkins.
More About Causes of Weight gain
» Next page: Poor Weight Gain - Case 6-3: 20-Day-Old Girl (Pediatric Complaints and Diagnostic Dilemmas)
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