Budd-Chiari syndrome caused by Gaucher's disease

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M Haliloglu1, F A Hoffer, A E Haight

  • 1Department of Diagnostic Imaging, St. Jude Children's Research Hospital, Memphis, TN 38105-2794, USA.

Pediatric Radiology
|December 22, 1999
PubMed

Insights

This case study highlights Gaucher's disease as a rare cause of Budd-Chiari syndrome. Diagnosis involved advanced imaging and pressure measurements, confirmed by histology.

Area of Science:

  • Hepatology
  • Vascular Medicine
  • Rare Diseases

Background:

  • Budd-Chiari syndrome involves hepatic venous outflow obstruction.
  • Gaucher's disease is a lysosomal storage disorder with potential systemic manifestations.

Observation:

  • A unique case of Budd-Chiari syndrome was identified.
  • The syndrome was directly linked to underlying Gaucher's disease.

Findings:

  • Diagnosis utilized a multimodal approach including Doppler sonography, MRI, MRA, venography, and pressure measurements.
  • Histological examination provided definitive confirmation of the diagnosis.

Implications:

  • This case expands the known clinical spectrum of Gaucher's disease.
  • Highlights the importance of considering rare metabolic disorders in the etiology of Budd-Chiari syndrome.
  • Suggests a need for integrated diagnostic strategies for complex vascular and metabolic conditions.

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