Abstract
A 1 year old male had features of autonomic dysfunction including lack of axon flare in response to intradermal histamine, abnormal pupillary response to conjunctival instillation of methacholine, absent fungiform papillae of the tongue, lack of overflow tears, decreased response to deep pain, and a history of recurrent aspiration pneumonias and failure to thrive. The patient differed from individuals with familial dysautonomia (FD) in that 1) he was not of Jewish heritage, 2) sweating was absent, 3) corneal reflexes were present, 4) temperature and vasomotor instability were absent. The patient differed from individuals with congenital sensory neuropathy with anhidrosis (CSN) in that 1) overflow tearing and fungiform papillae of the tongue were absent, 2) deep tendon reflexes were present, and 3) methacholine caused prompt pupillary miosis. True secretory diarrhea is a feature of neither FD or CSN, but was present in our patient. During a 9-day fast stool volume averaged 20 gm/kg/day. Stool electrolytes were Na 111 mEq/L, K 26 mEq/L, Cl 55 mEq/L. There was no evidence of malabsorption. Enteropathic bacteria and parasites were absent from the stool. No histologic abnormalities were evident in biopsies of the small bowel or rectum. The diarrhea improved during treatment with tincture of opium. Studies in animals and man have demonstrated that the autonomic nervous system contributes to the control of secretion from the small bowel and colon. This is the first report of a syndrome of a congenital autonomic dysfunction associated with secretory diarrhea.
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Hymen, P., Heyman, M., Feldman, E. et al. 1582 AUTONOMIC DYSFUNCTION ASSOCIATED WITH SECRETORY DIARHEA: A NEW SYNDROME. Pediatr Res 15 (Suppl 4), 707 (1981). https://doi.org/10.1203/00006450-198104001-01599
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DOI: https://doi.org/10.1203/00006450-198104001-01599