Krabbe Disease 

Check out this interesting case ...
1.1K
Description

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
Contributed by

Dr. Gerald Diaz
@GeraldMD
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:  https://www.instagram.com/grepmed/ | Twitter: https://twitter.com/grepmeded/
Medical jobs
view all

0 Comments

Related content