title: Wolfram (DIDMOAD) syndrome: report of two patients.
abstract: 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.
authors.affiliation: Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
authors.forename: Chao-Hsu
authors.initials: CH
authors.lastname: Lin
authors.forename: Yann-Jinn
authors.initials: YJ
authors.lastname: Lee
authors.forename: Chi-Yu
authors.initials: CY
authors.lastname: Huang
authors.forename: Jui-Wen
authors.initials: JW
authors.lastname: Shieh
authors.forename: Hung-Ching
authors.initials: HC
authors.lastname: Lin
authors.forename: An-Mei
authors.initials: AM
authors.lastname: Wang
authors.forename: Bing-Fu
authors.initials: BF
authors.lastname: Shih
mesh_terms: 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
chemical_list: D001323:Autoantibodies; D054562:Protein Tyrosine Phosphatase, Non-Receptor Type 1; D017027:Protein Tyrosine Phosphatases; D005968:Glutamate Decarboxylase