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Related Experiment Videos

A case of Farber disease.

T Fujiwaki1, S Hamanaka, M Koga

  • 1Department of Pediatrics, Kokura Memorial Hospital, Japan.

Acta Paediatrica Japonica : Overseas Edition
|February 1, 1992
PubMed
Summary

Farber disease, a rare genetic disorder, involves ceramide accumulation due to deficient acid ceramidase. This case highlights unique symptoms like persistent diarrhea and gallstones, expanding the known clinical spectrum.

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Farber disease (Farber lipogranulomatosis) is a rare lysosomal storage disorder.
  • It is characterized by the accumulation of the lipid precursor, ceramide.
  • This accumulation results from deficient acid ceramidase activity.

Observation:

  • A case presentation of Farber disease with typical features: shrill voice, joint swelling, subcutaneous nodules, and psychomotor retardation.
  • Cytological examination revealed characteristic intracytoplasmic inclusion bodies.
  • Additional observed symptoms included persistent diarrhea, cholelithiasis, transient proteinuria, and elevated urinary total sialic acids.

Findings:

  • Lipid analysis of liver tissue showed accumulation of ceramide with non-hydroxy fatty acids.
  • Acid ceramidase activity in the patient's liver was significantly reduced (31% of control).
  • The co-occurrence of diarrhea and cholelithiasis represents novel findings in Farber disease.

Implications:

  • This case broadens the understanding of Farber disease's clinical variability.
  • Early diagnosis and comprehensive management are crucial for patients with Farber disease.
  • Further research into acid ceramidase deficiency and ceramide metabolism is warranted.

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