Krabbe Disease 

Check out this interesting case ...

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 @

#Krabbe #Disease #Diagnosis #MRI #Clinical #Radiology
Contributed by

Dr. Gerald Diaz
Board Certified Internal Medicine Hospitalist, GrepMed Editor in Chief 🇵🇭 🇺🇸 - Sign up for an account to like, bookmark and upload images to contribute to our community platform. Follow us on IG: | Twitter:
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