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Related Experiment Videos

Hepatic dysfunction in Alström disease.

M B Connolly1, J E Jan, R M Couch

  • 1Division of Pediatric Neurology, University of British Columbia, Vancouver, Canada.

American Journal of Medical Genetics
|September 15, 1991
PubMed
Summary
This summary is machine-generated.

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Alström disease, a rare genetic disorder, can affect multiple organs. This case study highlights a previously undescribed hepatic dysfunction manifestation in an 11-year-old patient.

Area of Science:

  • Genetics
  • Rare diseases
  • Pediatrics

Background:

  • Alström disease is an ultra-rare autosomal recessive genetic disorder.
  • Characterized by progressive sensory neural hearing loss, pigmentary retinopathy, and metabolic dysfunction.
  • Fewer than 20 cases reported globally.

Observation:

  • An 11-year-old female presented with classic Alström disease symptoms.
  • Symptoms included pigmentary retinopathy, sensory neural deafness, obesity, Type II diabetes mellitus, hyperlipidemia, and acanthosis nigricans.
  • The patient also developed hepatic dysfunction resembling chronic active hepatitis.

Findings:

  • The hepatic dysfunction observed in this patient may represent a novel systemic manifestation of Alström disease.
  • Pathological findings of the liver were similar to chronic active hepatitis.

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  • This expands the known clinical spectrum of Alström disease.

    • Implications:

    • Highlights the need for comprehensive multi-system evaluation in Alström disease patients.
    • Suggests that hepatic involvement should be considered in the diagnostic workup.
    • Further research is warranted to elucidate the mechanisms and prevalence of hepatic dysfunction in Alström disease.