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Case Report



Krabbe\'s disease in a 28 year old adult - A rare case report

Subrata Chakrabarti, Koushik Pan.




Abstract

Krabbe”s disease (KD) or Globoid cell leukodystrophy (GLD) is a disorder involving the white matter of both the central and peripheral nervous systems. It is caused by congenital deficiency of a lysosomal enzyme, galactosylceramidase I, which is responsible for hydrolyzing the galactolipids in myelin. The disease is extremely rare occurring only one in 100,000 to one in 200,000 live births. The disease is classically of infantile origin but it can also occur in older children as well as adults. Adult variant is the rarest type. We hereby report a 34 year old male patient with progressively increasing ataxia, dysarthria. Typical MRI brain changes and diminished leucocyte galactocerebrosidase (GALC) enzyme levels clinched the diagnosis of Krabbe”s disease . There are very few cases of KD reported from India. This case report is to stress upon the fact that this rare entity should not be missed in an appropriate clinical setting.

Key words: Krabbe disease, leukodystrophy, galactosylceramidase, GALC enzyme






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