Abstract
A 3 yr old boy with Cockayne's syndrome (CS), a neurodegenerative disease, presented with malnutrition secondary to vomiting and diarrhea. Anatomic, mucosal and infectious etiologies were ruled out. Symptoms recurred independent of the strength or volume of an elemental formula given by bolus or continuous drip despite a fundoplication, gastrostomy and jejunostomy. To determine the defect in motility, manometric studies were performed in the antrum, duodenum and jejunum with a water perfused multi-lumened catheter. Abnormal fasting motility was characterized by the complete absence of the migrating motor complex and a predominance of Phase 1 activity. After a bolus feeding, the typical fed pattern of random contractions was not seen. Phase 1 activity still predominated. In contrast, intravenous metocloparamide (MCP) given 5 minutes before a bolus feeding induced high amplitude, normal frequency contractions of 3/minute in the antrum and 11/minute in the duodenum and jejunum. In 1 study, Phase 1 activity occupied 32% of the first 60 minutes after feeding when MCP was given, compared to 87.5% when no drug was administered, suggesting that the intestinal muscle is capable of reponse to a chemical stimulus. Other pathologic descriptions of abnormal neurons and myelination in both the peripheral and central nervous system and recent work demonstrating abnormalities of the myenteric plexus in CS support this observation. As part of a widespread neurodegenerative process also affecting the neural plexi of the intestine, CS patients have intestinal dysmotility. This is a previously unreported association.
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Hcdiarmid, S., Vargas, J. & Ament, M. INTESTINAL MOTILITY IN COCKAYNE'S SYNDROME. Pediatr Res 21 (Suppl 4), 273 (1987). https://doi.org/10.1203/00006450-198704010-00633
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DOI: https://doi.org/10.1203/00006450-198704010-00633