title: Hereditary sensory and autonomic neuropathy with autonomic crises: a Turkish variant of familial dysautonomia?
abstract: Hereditary sensory and autonomic neuropathies have different phenotypes. We report 2 cousins with differing clinical courses of a hereditary sensory and autonomic neuropathy. The progressive disease in case 1 is dominated by loss of sensation, autonomic crises, and pain. Case 2 shows loss of sensation, mental retardation, and deafness, clinically similar to patients with hereditary sensory and autonomic neuropathy type II. Detailed molecular studies in case 1 for all known genes that are associated with hereditary sensory and autonomic neuropathies were negative. However, the occurrence of the 2 cases within 1 kindred makes a common genetic background likely. We, therefore, propose a Turkish variant of familial dysautonomia in these 2 patients.
authors.affiliation: Department of General Pediatrics, University Children's Hospital Düsseldorf, Germany. anne.koy@med.uni-duesseldorf.de
authors.forename: Anne
authors.initials: A
authors.lastname: Koy
authors.forename: Rainer
authors.initials: R
authors.lastname: Freynhagen
authors.forename: Ertan
authors.initials: E
authors.lastname: Mayatepek
authors.forename: Daniel
authors.initials: D
authors.lastname: Tibussek
mesh_terms: D002648:Child; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000175:diagnosis*; D006801:Humans; D008297:Male; D014421:Turkey; D055815:Young Adult