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[Incomplete Wolfram syndrome. Clinical case report].

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Summary

Wolfram syndrome diagnosis is challenging due to variable symptom onset and sequence. This case highlights early bladder dysfunction and hearing loss, differing from the typical progression.

Keywords:
DIDMOAD syndromeWolfram syndromechildrenclinical case reportincomplete form

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Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Wolfram syndrome is a rare genetic disorder characterized by progressive neurodegeneration.
  • Typical manifestations include diabetes mellitus, optic atrophy, hearing loss, and bladder dysfunction.
  • Diagnosis is often delayed due to the slow and variable progression of symptoms.

Observation:

  • This report details the clinical presentation and follow-up of a child with Wolfram syndrome.
  • The patient exhibited early-onset bladder innervation disorders within the first year of life.
  • Sensorineural hearing loss developed by the fourth year, preceding typical timelines.

Findings:

  • The patient presented with optic disc atrophy within the first year after diabetes onset, consistent with literature.
  • Early onset of bladder dysfunction and sensorineural hearing loss deviates from the classic Wolfram syndrome progression.
  • The case represents an incomplete form of Wolfram syndrome, lacking diabetes insipidus.

Implications:

  • This case underscores the significant variability in Wolfram syndrome's clinical manifestations and disease course.
  • The atypical sequence of symptoms complicates early and accurate diagnosis of Wolfram syndrome.
  • Recognizing these variations is crucial for timely intervention and management in affected children.