[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.