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A case of late variant form of infantile Krabbe disease with a partial deficiency of galactocerebrosidase.

Abstract：

:A female was diagnosed as a late variant form of infantile Krabbe disease at 1 year and 3 months because of the late onset of regressive clinical course, decreased motor nerve conduction velocities, high cerebrospinal protein concentration and partial deficiency of galactocerebrosidase (15.6%) in the cultured skin fibroblasts. She showed normal development until 8 months when she lost her ability of sitting alone after febrile infection, and died accidentally at 2 years and 4 months. A considerable residual enzyme activity may correlate to the milder clinical course of this case.

journal_name

Brain Dev

journal_title

Brain & development

authors

Okada S,Kato T,Tanaka H,Takada K,Aramitsu Y

doi

10.1016/s0387-7604(88)80045-7

subject

Has Abstract

pub_date

1988-01-01 00:00:00

pages

45-6

issue

1

eissn

0387-7604

issn

1872-7131

pii

S0387-7604(88)80045-7

journal_volume

10

pub_type

杂志文章

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