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[Wolfram syndrome. Three case reports].

Z Hajji1, M Halhal, Z Chaoui

  • 1Clinique Universitaire Ophtalmologique B, CHU Ibn Sina, Rabat, Maroc.

Journal Francais D'Ophtalmologie
|March 3, 1999
PubMed
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Wolfram syndrome, a rare genetic disorder, involves diabetes mellitus, optic atrophy, and deafness. This report details three new cases, highlighting key diagnostic features and potential mitochondrial dysfunction.

Area of Science:

  • Genetics and rare diseases
  • Ophthalmology
  • Endocrinology

Background:

  • Wolfram syndrome (WS), also known as DIDMOAD syndrome, is a rare autosomal recessive disorder.
  • It is characterized by the combination of diabetes mellitus, diabetes insipidus, optic atrophy, and deafness.
  • Early diagnosis and understanding of WS are crucial for patient management.

Observation:

  • This report presents three new cases of Wolfram syndrome in adolescents (12-17 years old).
  • Key diagnostic features included juvenile diabetes mellitus, bilateral optic atrophy, and urinary tract dilation.
  • Deafness was present in two of the three reported cases.

Findings:

  • Ophthalmic manifestations of WS include progressive visual acuity loss, visual field constriction, and optic disc atrophy.

Related Experiment Videos

  • Diabetic retinopathy is an uncommon complication of Wolfram syndrome.
  • The study differentiates WS from other diabetes-associated optic atrophies.

    • Implications:

    • Understanding the clinical spectrum of Wolfram syndrome aids in accurate diagnosis and differential diagnosis.
    • Further research into pathogenic hypotheses, such as mitochondrial dysfunction, is warranted.
    • This case series contributes to the knowledge base for managing this rare condition.