Adult‐onset Krabbe disease presenting as isolated sensorimotor demyelinating polyneuropathy: A case report

• DOI: 10.1111/jns.12511
• Publication Date: 2022-09-04T04:44:56Z
• Authors: Emily Forbes; Kaitlin Smith; Monica Petluru; Jered Nystrom; Vera Fridman
• Keywords: Krabbe disease; Demyelinating disease

Abstract Krabbe disease is a rare autosomal recessive neurodegenerative disease, caused by mutations in the GALC gene, which encodes for lysosomal enzyme galactocerebrosidase. Typical clinical manifestations of include psychomotor deterioration, visual loss, seizures, and spasticity, that result from central nervous system demyelination. We report case 35‐year‐old male with who presented adulthood isolated severe, upper extremity predominant demyelinating sensorimotor polyneuropathy did not develop other distinguishing or radiological features until later stages disease. The patient's diagnostic odyssey lasted 13 years presentation to diagnosis, was ultimately determined use whole exome sequencing (WES) at age 48 years. expanding phenotypic spectrum adult‐onset Disease (AOKD) presents challenge can lead delays potentially affect treatment options. Our underscores importance pursuing WES those undiagnosed progressive neuromuscular disorders.