Krabbe Disease Check out this interesting case of Krabbe disease, a rare genetic leukodystrophy. Diagnosis was made by radiology, which helped guide confirmatory lab testing and expedite treatment with clinical trials. • Autosomal recessive leukodystrophy w/ deficiency of galactocerebroside that leads to accumulation of psychosine, which is neurotoxic • Symptoms: dev delay, seizures, visual failure, cerebellar ataxia Imaging shows • Symmetric abnormal WM, cerebellar nuclei, & PLICs • Mineralization of thalami • Enlarged optic nerves (from globoid cell deposition) • Dec NAA, inc Cho Tx: Stem cell transplant, clinical trials Dr. Mark Mamlouk @ https://twitter.com/MarkMamloukMD #Krabbe #Disease #Diagnosis #MRI #Clinical #Radiology
