Congenital cholinergic nervous system dysfunction in identical twins.
We report identical male twins with secretory diarrhea, craniofacial abnormalities often found in G syndrome, hypospadias, and abnormalities of the cholinergic nervous system including achalasia, decreased tearing, corneal hypesthesia, positive Mecholyl test (eye and esophagus), and decreased sweating. The children also lacked fungiform papillae but were clinically distinct from patients with either the Riley-Day syndrome or acquired dysfunction of the autonomic nervous system. Assessment of autonomic nervous system function should be considered in infants with recurrent diarrhea or swallowing disorders or in children with morphologically characteristics suggesting G syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics; D002799:Cholinergic Fibers / Q000503:physiopathology*; D003968:Diarrhea, Infantile / Q000235:genetics; D004200:Diseases in Twins; D004402:Dysautonomia, Familial / Q000235:genetics* / Q000503:physiopathology; D004931:Esophageal Achalasia / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D011247:Pregnancy; D014430:Twins, Monozygotic