Severe Diarrhea Associated with X-linked Lissencephaly with Absent Corpus Callosum and Abnormal Genitalia: a Case Report of Successful Treatment with the Somatostain Analogue Octreotide:a Case Report of Successful Treatment with the Somatostatin Analogue

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We report the clinical course of a case of X-linked lissencephaly with absent corpus callosum and abnormal genitalia (XLAG) exhibiting severe diarrhea. The patient demonstrated lactose intolerance and his intractable seizures were relieved with lactose-free, extensively hydrolyzed whey protein formula.<BR>At the age of 2 years while being treated with the antiallergic formula, he was affected with severe diarrhea that resembled watery diarrhea-hypokalemia-acidosis syndrome (WDHA). Administration of octreotide was effective in relieving his secretory diarrhea.<BR>Hypoglycemia without hyperinsulinemia was seen during fasting, and plasma vasoactive intestinal polypeptide was not increased when he had WDHA-like diarrhea. Although pancreas of ARX mutant mice revealed an increased number of β and δ cells, we did not detect the cause of hypoglycemia and secretory diarrhea by pancreatic endocrinology.<BR>His urinary findings mimicked the symptoms of Fanconi syndrome, so it was possible that his hyperaldsteronemia affected not only his intestinal tract, but also his renal tubules.
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