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[Neonatal hepatitis in a case of Gaucher's disease in its acute infantile form].

作者信息

Drei F, Solfrini N, Pittschieler K, Colombetti V, Mengarda G

出版信息

Pediatr Med Chir. 1982 May-Jun;4(3):275-8.

PMID:7170198
Abstract

There is described a case of Gaucher's disease in its acute infantile form, interesting for the initial symptomatology marked by a hepatitic similarity, which has got manifest, already during the first days of life. A splenic and hepatic biopsy made at the age of about six months showed clearly the presence of cells with the characteristics of Gaucher's cells. A sure diagnosis was made at seven months through the determination of beta-glucosidase on the fibroblasts after the skin-biopsy. The patient died at the age of 14 months during an apnoic crisis.

摘要

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