Congenital dysautonomia with secretory diarrhea.
A 1-year-old boy was evaluated because of failure-to-thrive and persistent diarrhea. His illness was characterized by autonomic dysfunction sharing some features of both familial dysautonomia and congenital sensory neuropathy with anhidrosis, but was consistent with neither diagnosis. The gastrointestinal tract was involved: esophageal motility was abnormal and moderate secretory diarrhea was present. This report documents an unusual case of congenital autonomic dysfunction with secretory diarrhea.
D001342:Autonomic Nervous System Diseases / Q000151:congenital* / Q000175:diagnosis; D003937:Diagnosis, Differential; D003968:Diarrhea, Infantile / Q000209:etiology*; D004402:Dysautonomia, Familial / Q000175:diagnosis; D005769:Gastrointestinal Motility; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000175:diagnosis*; D006801:Humans; D007007:Hypohidrosis / Q000175:diagnosis*; D007223:Infant; D008297:Male; D013577:Syndrome