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

Initial Differential Diagnosis

In addition to the conditions mentioned in the previous question, there are other processes that should be considered in this patient's differential diagnosis. Conditions causing pancreatic insufficiency, such as cystic fibrosis, may cause chronic diarrhea as well as liver abnormalities. Metabolic disorders such as galactosemia may present with diarrhea, hepatomegaly, and sepsis. The patient's diarrhea could also be explained by an infection or a postinfectious enteropathy that led to intestinal villous damage. Neonatal enteropathies, such as microvillus inclusion disease, tufting enteropathy, autoimmune enteropathy, and IPEX (immunodysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome should also be considered. Conditions causing carbohydrate malabsorption, such as sucrase-isomaltase deficiency, could also be a cause of chronic diarrhea. Patients with an immunodeficiency such as chronic granulomatous disease could present with a history of abscesses and pneumonia, diarrhea, and if the infection involved the liver, increased aminotransferase levels. Endocrine abnormalities and nonorganic causes should always be considered in patients with failure to thrive; however, this patient's clinical history and laboratory abnormalities do not seem to be compatible with these causes.


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