MRI Findings in Encephalopathy with Primary Carnitine Deficiency: A Case Report

BACKGROUND AND PURPOSEWe presented MRI and DWI findings of a 12-year-old boy with primary carnitine deficiency, manifested with hypoglycemic hypoketotic encephalopathy. METHODSMagnetic resonance imaging (MRI) and diffusion weighted imaging (DWI) were performed to the patient. RESULTSIn our case, T2 hyperintensity and diffusion restriction were noted bilaterally in the corona radiate, cerebral white matter, deep white matter of cerebellum, ascending (inferior cerebellar peduncle) and descending tracts (corticospinal and corticobulbar tracts) of brainstem. CONCLUSIONSMRI and DWI are helpful in the diagnosis, therapy planning and follow up of encephalopathic cases with carnitine deficiency.