Wolfram (DIDMOAD) syndrome: report of two patients

J Pediatr Endocrinol Metab. 2004 Oct;17(10):1461-4. doi: 10.1515/jpem.2004.17.10.1461.

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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Autoantibodies / immunology
  • Child
  • Child, Preschool
  • Diabetes Mellitus, Type 1 / immunology*
  • Female
  • Glutamate Decarboxylase / immunology
  • Hearing Loss, Sensorineural / immunology*
  • Humans
  • Optic Atrophy / immunology*
  • Protein Tyrosine Phosphatase, Non-Receptor Type 1
  • Protein Tyrosine Phosphatases / immunology
  • Wolfram Syndrome / diagnosis*
  • Wolfram Syndrome / immunology

Substances

  • Autoantibodies
  • Protein Tyrosine Phosphatase, Non-Receptor Type 1
  • Protein Tyrosine Phosphatases
  • Glutamate Decarboxylase