Congenital autonomic dysfunction with universal pain loss.
Three patients who appear to have a previously undescribed congenital neuropathy are described. None is of Ashkenazi Jewish extraction, but each seems to fulfill the clinical diagnostic criteria for familial dysautonomia. All lack overflow tears, fungiform papillae, and deep-tendon reflexes; intradermal administration of histamine did not produce an axon flare. Intraocular instillation of dilute mecholyl produced miosis in the one patient tested. In contrast to patients with familial dysautonomia, the three patients had universal loss of pain sensation, profound hypotonia, and unusual facies. Pathologic examination of the sural nerve in one patient was not consistent with the usual findings in familial dysautonomia. These patients are believed to have a previously undescribed congenital neuropathy.
D002675:Child, Preschool; D003937:Diagnosis, Differential; D004402:Dysautonomia, Familial / Q000175:diagnosis; D005149:Facial Expression; D006801:Humans; D008297:Male; D009123:Muscle Hypotonia / Q000175:diagnosis; D000699:Pain Insensitivity, Congenital / Q000175:diagnosis* / Q000473:pathology; D013497:Sural Nerve / Q000473:pathology; D013577:Syndrome