An 11-Month-Old Boy With Chronic Diarrhea, Failure to Thrive, and Hepatomegaly

Steven Liu, MD; Jonathan E. Markowitz, MD, MSCE; Petar Mamula, MDSeries Editors: David A. Piccoli, MD; Petar Mamula, MD


September 12, 2007

Case Presentation

An 11-month-old boy was admitted to the hospital for a history of chronic diarrhea and severe failure to thrive. He was born full-term with a birth weight of 2.8 kg, but did not regain his birth weight until 2 months of age. He was noted by his parents to have foul-smelling diarrhea after every feeding for most of his life. He had been fed standard cow's milk protein-based formula and was reported to have a hearty appetite, typically ingesting at least 32 oz per day of formula without any vomiting or arching. He was seen by an endocrinologist at 4 months of age for poor weight gain, but no diagnosis was obtained. It was noted at the time, however, that he had a mildly enlarged liver.

His weight and height paralleled but remained below the third percentile curves. He began eating solids at 7 months of age and was started on a cow's milk protein-based nutritional supplement at 9 months of age without improvement in his weight gain. No hematochezia, fevers, jaundice, or rashes were reported.

His past medical history was remarkable for occipital nodal abscesses at 5 months of age and right lower lobe pneumonia at age 10 months. Both infections responded rapidly to antibiotics. He had no history of prior surgeries and his only medication was ranitidine for presumed gastroesophageal reflux disease. He had no known drug allergies. Both the social and family history were noncontributory. There was no known consanguinity in the family. The patient did have a history of developmental delay, as he rolled over at 7 months of age and was not yet able to sit or stand without support.

On physical examination, the patient weighed 5.16 kg (50th percentile for a 2-month-old) and had a length of 62.5 cm (50th percentile for a 3-month-old). His vital signs were within normal limits. He appeared to be a small, wasted infant with a high-pitched cry. There was no scleral icterus. He had a narrow thorax, and his lungs were clear to auscultation. His cardiac exam was normal. His abdomen was protuberant, nontender, and had normal bowel sounds. His liver edge was palpable 3 cm below the right costal margin, and his spleen was not palpable. There was no jaundice, and his neurologic exam demonstrated mild generalized hypotonia.

Electrolytes and coagulation studies were normal. He had elevated aminotransferases (alanine aminotransferase [ALT] 365 U/L, aspartate aminotransferase [AST] 325 U/L) and a mildly elevated serum gamma-glutamyl transpeptidase (GGT) of 63 U/L. His total bilirubin, alkaline phosphatase, total protein, and albumin levels were normal. His serum amylase and lipase levels were normal. Complete blood count was notable for an elevated white blood cell count of 20,900 cells/mcL (3% neutrophils, 83% lymphocytes, 9% monocytes), hemoglobin of 10.7 g/dL, hematocrit of 32.9%, and platelet count of 433,000 cells/mcL. A urine culture was positive for Escherichia coli.

Which of the following conditions is the most likely explanation for the patient's failure to thrive, diarrhea, and liver abnormalities?

  • Inadequate caloric intake

  • Urinary tract infection

  • Cow's milk protein allergy

  • Celiac disease

View the correct answer.


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