Objective:

Reporting an unusual case of adult-onset Krabbe disease.

Background:

Krabbe disease, also known as globoid cell leukodystrophy, is a rare autosomal recessive condition caused by a deficiency of the enzyme galactosylceramidase (GALC) resulting in accumulation of galactocerebroside and psychosine, which are neurotoxic. Neurologic manifestations vary, however it can present with combined peripheral and central demyelination.

Design/Methods:

N/A

Results:

A 38-year-old woman with a history significant for mood disorder and tobacco use presented with a 3 year history of bilateral lower extremity paresthesias, distal weakness, ataxia, and episodes of right monocular blurred vision. MRI of the brain showed nonspecific hyperintensities on T2 sequencing. Imaging of her cervical and thoracic spine was unremarkable. Workup for infections or nutritional deficiencies did not provide an explanation for her symptoms. CSF studies were notable for slightly elevated protein levels. Studies on the CSF/serum testing for oligoclonal bands and MOG and AQP4 antibodies were negative. EMG/NCS showed a demyelinating polyneuropathy with homogeneous slowing without conduction block or temporal dispersion. Mild chronic denervation was noted in distal muscles. Genetic assays were obtained and demonstrated two pathogenic variants identified in the GALC (galactocerebrosidase) gene, confirming a diagnosis of Krabbe Disease.

Conclusions:

Combined central and peripheral demyelinating diseases can be overlooked in favor of atypical presentations of more common conditions, such as multiple sclerosis or chronic inflammatory demyelinating polyneuropathy (CIDP). In cases where clinical examination shows evidence of peripheral and central nervous system involvement, consideration of hereditary leukodystrophies such as Krabbe disease and genetic testing is warranted.