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Budd-Chiari syndrome caused by Gaucher's disease
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
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.
Abstract:
We present a unique case of Budd-Chiari syndrome caused by Gaucher's disease. The diagnosis was based on Doppler sonography, magnetic resonance imaging, contrast-enhanced three-dimensional magnetic resonance angiography, standard venography, and venous pressure measurements and was confirmed histologically.