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Case Reports
. 1998 Oct;186(2):143-9.
doi: 10.1620/tjem.186.143.

Enzyme therapy in Gaucher disease type 2: an autopsy case

T Takahashi  1 , Y Yoshida, W Sato, T Yano, Y Shoji, Y Sawaishi, I Sakuma, T Sashi, K Enomoto, H Ida, G Takada
Affiliations
Free article
Case Reports

Enzyme therapy in Gaucher disease type 2: an autopsy case

T Takahashi et al. Tohoku J Exp Med. 1998 Oct.
Free article

Abstract

A Japanese patient with Gaucher disease type 2 was treated with enzyme therapy, alglucerase, from 7 to 22 months of age. Whereas hematologic parameters were normalized and hepatosplenomegaly was alleviated, no improvement in neurologic symptoms occurred, and the patient died of respiratory failure at age 22 months. Postmortem examination revealed massive intra-alveolar infiltration of Gaucher cells in lungs and in the central nervous system, i.e., the presence of Gaucher cells in the perivascular Virchow-Robins spaces in the cortex and deep white matter and extensive lamilar necrosis with reactive proliferation of blood vessels and macrophage infiltration of the cerebral cortex. It is suggested that enzyme therapy, with thus far recommended dose, does not prevent long-term respiratory and central nervous system involvement in severe varients of Gaucher disease.

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