[Clinical characteristics of Wolfram syndrome].
OBJECTIVE
Wolfram syndrome (WFS) is a rare, autosomal recessive inherited disease characterized by various clinical manifestations. The aim of this study was to investigate clinical characteristics of WFS.


METHODS
One case of WFS was reported. Combined with the clinical data of 8 cases of WFS which had been reported in China between 1994 and 2007, the clinical characteristics of WFS were reviewed.


RESULTS
Insulin-dependent diabetes mellitus as the earliest manifestation was found in all of the 9 patients, with a median onset age of 5.0 years. Optic atrophy occurred in 8 patients (onset age: 8.5 years), diabetes insipidus in 7 patients (onset age: 8.5 years) and deafness in 7 patients (onset age: 9.8 years). Short stature was found in 6 patients and hydroureteronephrosis in 4 patients.


CONCLUSIONS
Insulin-dependent diabetes mellitus was the first presentation in children with WFS. Optic atrophy, diabetes insipidus and deafness were common complications, with a various onset age.
Hou
Ling
L
Department of Pediatrics, Huazhong University of Science and Technology, Wuhan 430030, China.
Lin
Han-Hua
HH
Wu
Li
L
Luo
Xiao-Ping
XP
D002648:Child; D006801:Humans; D008297:Male; D014929:Wolfram Syndrome / Q000150:complications* / Q000175:diagnosis / Q000628:therapy