Incomplete Wolfram syndrome: clinical and electrophysiologic study of two familial cases.
Wolfram, or DIDMOAD, syndrome is a genetic disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy and deafness. We studied a family in which only diabetes mellitus and primary optic atrophy were present in three female siblings. Two of these patients, fraternal twins, were subjected to a complete electrophysiologic examination. The possibility of an incomplete clinical expression of Wolfram syndrome, hypotheses of its genetic transmission, and diagnostic problems are discussed.
Cillino
S
S
Istituto di Clinica Oculistica, Policlinico, Palermo, Italy.
Anastasi
M
M
Lodato
G
G
D000328:Adult; D003920:Diabetes Mellitus / Q000235:genetics / Q000503:physiopathology*; D004594:Electrophysiology; D005260:Female; D006801:Humans; D009896:Optic Atrophy / Q000235:genetics / Q000503:physiopathology*; D014929:Wolfram Syndrome / Q000235:genetics / Q000503:physiopathology*