Tohoku J. Exp. Med., 1998, 186 (2)

Case Report

Enzyme Therapy in Gaucher Disease Type 2: An Autopsy Case

TSUTOMU TAKAHASHI, YASUJI YOSHIDA,1 WATARU SATO, TAMAMI YANO, YUTAKA SHOJI, YUKIO SAWAISHI, IKURO SAKUMA,2 TAKASHI SASHI,2 KATSUHIKO ENOMOTO,3 HIROYUKI IDA4 and GORO TAKADA

Departments of Pediatrics, 2Radiology, 3Pathology, Akita University School of Medicine, Akita 010-8543, 1Department of Pathology, Research Institute for Brain and Blood Vessels, Akita 010-0874, and 4Department of Pediatrics, Jikei Medical School, Tokyo 105-0003

  • 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 improve-ment 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 laminar 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 variants of Gaucher disease.
    Key words--- Gaucher disease type 2; enzyme therapy; an autopsy case
    © 1998 Tohoku University Medical Press

    Tohoku J. Exp. Med., 1998, 186, 143-149
    Address for reprints: Tsutomu Takahashi, M.D., Department of Pediatrics, Akita University School of Medicine, 1-1-1 Hondo, Akita 010-8543, Japan.

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