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Wolman's disease diagnosed by intestinal biopsy
M Castro1, P Rosati, R Boldrini
1Department of Gastroenterology, Children's Hospital Bambino Gesù, Rome, Italy. castro@obg-irccs.rm.it
Italian Journal of Gastroenterology and Hepatology
|December 22, 1999
Summary
A rare genetic disorder, Wolman's disease, caused a fatal outcome in an infant. Diagnosis was confirmed through intestinal biopsy, CT scan, and elevated acid phosphatase levels.
Area of Science:
- Biochemistry
- Pediatric Gastroenterology
- Genetics
Background:
- Wolman's disease is a rare lysosomal storage disorder.
- It is characterized by the accumulation of triglycerides and cholesterol esters due to acid lipase deficiency.
Observation:
- A 5-month-old Italian infant presented with severe gastrointestinal distress.
- The infant exhibited symptoms suggestive of a metabolic disorder from an early age.
Findings:
- Diagnosis was established at 3 1/2 months via intestinal biopsy.
- Abdominal CT scan and elevated blood acid phosphatase levels corroborated the biopsy findings, confirming Wolman's disease.
Implications:
- Early diagnosis of Wolman's disease is crucial for potential intervention, though outcomes remain poor.
- This case highlights the importance of integrating clinical, imaging, and biochemical data for diagnosing rare pediatric diseases.