Abstract Details

Krabbe Disease is a leukodystrophy characterized by both central and peripheral demyelination. The infantile onset form of Krabbe Disease is most common, although later onset forms exist, including rare adult-onset cases. Here, we present a much older patient presenting with a mild form of Krabbe Disease.

To describe a case of an older woman who presented for evaluation of demyelinating polyneuropathy, and was then diagnosed with adult-onset Krabbe disease.

Clinical Case

A 72-year-old woman presented to neuromuscular clinic for a second opinion of possible chronic inflammatory demyelinating neuropathy. She reported a ten-year history of progressive numbness and weakness in the bilateral legs. She was maintained on frequent intravenous immune globulin infusions with no clear benefit. Neurological exam revealed mild hand intrinsic weakness and weakness of bilateral hip flexion and ankle dorsiflexion. She had retained upper extremity and patellar reflexes and absent Achilles reflexes. Her MRI scan of the brain demonstrated confluent white matter T2-hyperintensities in a posterior-predominant pattern. Her nerve conduction studies showed a uniform pattern of slowing with no conduction block or temporal dispersion.  Genetic testing for inherited leukodystrophies was performed. This confirmed her to be homozygous for a known pathogenic mutation in the GALC gene, c.850G>A.

We describe a much older patient who was found to have genetically confirmed Krabbe Disease. This case illustrates that Krabbe Disease can be a cause of demyelinating neuropathy, even in considerably older patients. The diagnosis should also be kept in mind in patients with typical findings on MR imaging, no matter the age. In infancy, Krabbe disease can be treated with hematopoietic stem cell transplant. While adult-onset Krabbe is not treatable, proper diagnosis allows for appropriate genetic counseling and may help avoid unnecessary treatments.