Harun Yıldız

A case of Krabbe disease presenting with hydrocephalus

Krabbe disease, or globoid cell leukodystrophy, is a rare autosomal recessive lysosomal storage disorder caused by deficiency of galactocerebrosidase (GALC) enzyme activity. While classic infantile presentation typically includes irritability, spasticity, and developmental regression, this report describes an atypical...