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