Wolfram (DIDMOAD) syndrome: report of two patients.
We report a girl with Wolfram syndrome who presented with juvenile-onset diabetes mellitus when she was 4 3/12 years old. Optic atrophy and high frequency sensorineural hearing loss were found at 7 and 9 5/12 years of age, respectively. Her younger brother also developed Wolfram syndrome when he was 3 2/12 years old. Wolfram syndrome is also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness). This syndrome is transmitted as an autosomal recessive trait and is a progressive neurodegenerative disorder. It should be considered in a diabetic patient with unexplained optic atrophy, hearing loss, or polyuria and polydipsia in the presence of adequate blood glucose control. Visual acuity should be checked annually in patients with juvenile-onset diabetes mellitus. Optic atrophy should be considered if visual acuity is impaired.
Lin
Chao-Hsu
CH
Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
Lee
Yann-Jinn
YJ
Huang
Chi-Yu
CY
Shieh
Jui-Wen
JW
Lin
Hung-Ching
HC
Wang
An-Mei
AM
Shih
Bing-Fu
BF
D000293:Adolescent; D001323:Autoantibodies / Q000276:immunology; D002648:Child; D002675:Child, Preschool; D003922:Diabetes Mellitus, Type 1 / Q000276:immunology*; D005260:Female; D005968:Glutamate Decarboxylase / Q000276:immunology; D006319:Hearing Loss, Sensorineural / Q000276:immunology*; D006801:Humans; D009896:Optic Atrophy / Q000276:immunology*; D054562:Protein Tyrosine Phosphatase, Non-Receptor Type 1; D017027:Protein Tyrosine Phosphatases / Q000276:immunology; D014929:Wolfram Syndrome / Q000175:diagnosis* / Q000276:immunology
D001323:Autoantibodies; D054562:Protein Tyrosine Phosphatase, Non-Receptor Type 1; D017027:Protein Tyrosine Phosphatases; D005968:Glutamate Decarboxylase