Adult onset krabbe’s disease with galc enzyme deficiency: a rare case report

Krabbe’s disease (globoid cell leucodystrophy) is a disorder involving the white matter of the peripheral and central nervous systems. Mutations in the gene for the lysosomal enzyme galactocerebrosidase (GALC) result in low enzymatic activity and decreased ability to degrade galactolipids found in myelin. The disease is classically of infantile onset, but adult onset cases have been reported. A 30 year old female with Krabbe’s disease is described, with proven GALC deficiency. Patient is a young female with the history of gradual onset and gradually progressive executive dysfunction for last 4 years associated with difficulty in walking since 4 years and behavioural abnormalities since 2 years and two episodes of seizures. On examination there was no dysmorphic features apparent, spasticity was present in both the legs with brisk reflexes and few cerebellar signs with with Impairement in all the lobar functions. She was suspected case of leukodystrophy and MRI suggestive of hyperintensities in periventricular white matter. Her opthalomological evaluation normal. VEP/BERA/ NCV was normal. Her routine investigations was normal and enzyme assay for leukodystrophy suggestive of decrease level of galactocerebrocidase, suggestive of krabbe's disease.