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[Wolfram syndrome. Personal experience]

G Marietti1, C Bizzarri, F Perrone

  • 1Istituto di Clinica Pediatrica, Università Cattolica del Sacro Cuore, Roma.

Minerva Pediatrica
|April 1, 1995
PubMed
Summary
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This study details a rare case of Wolfram syndrome presenting with thiamine-responsive anemia. The findings suggest diabetes and optic atrophy in this syndrome are independent of thiamine metabolism.

Area of Science:

  • Pediatric Endocrinology
  • Metabolic Disorders
  • Genetics

Background:

  • Wolfram syndrome is a rare genetic disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.
  • Early diagnosis and management are crucial for improving patient outcomes.
  • This case highlights a rare presentation of Wolfram syndrome with megaloblastic anemia.

Observation:

  • A young patient presented with diabetes mellitus and neurosensorial deafness from age two.
  • Progressive vision deterioration led to a diagnosis of optic atrophy by age three.
  • At age six, the patient developed thiamine-responsive megaloblastic anemia, a rare manifestation of Wolfram syndrome.

Findings:

  • Thiamine supplementation (75 mg/day) rapidly improved hemoglobin levels.

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  • Insulin requirements and C-peptide levels remained unchanged, indicating persistent diabetes mellitus.
  • No improvement in deafness or optic atrophy was observed with thiamine therapy.

    • Implications:

    • These observations suggest that diabetes mellitus and optic atrophy in Wolfram syndrome are not directly linked to thiamine metabolism.
    • Further research is needed to elucidate the complex pathophysiology of Wolfram syndrome.
    • This case underscores the importance of recognizing diverse clinical presentations of rare genetic disorders.