Affiliation:
1. Department of Pediatrics, Shaare Zedek Hospital and the Departments of Pathology and Biochemistry, Hebrew University—Hadassah Medical School, Jerusalem, Israel
Abstract
A case of the infantile form of Gaucher's disease in a Sephardi Jewish infant is described. Evidence of the disease was present at birth, and death occurred 48 hours later due to intracranial hemorrhage following a tentorial tear. The diagnosis of Gaucher's disease was confirmed by the histological, histochemical, and biochemical findings at autopsy. Typical Gaucher cells were present in the brain of the patient described. The rarity of the infantile form of Gaucher's disease in Jews, especially in those of Sephardi origin, is stressed.
Publisher
American Academy of Pediatrics (AAP)
Subject
Pediatrics, Perinatology and Child Health
Cited by
2 articles.
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