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MRI Findings in Encephalopathy with Primary Carnitine Deficiency: A Case Report
Author(s) -
Yilmaz Temel Fatih,
Atay Musa,
Toprak Huseyin,
Guler Serhat,
Aralasmak Ayse,
Alkan Alpay
Publication year - 2014
Publication title -
journal of neuroimaging
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.822
H-Index - 64
eISSN - 1552-6569
pISSN - 1051-2284
DOI - 10.1111/jon.12102
Subject(s) - medicine , hyperintensity , magnetic resonance imaging , white matter , diffusion mri , brainstem , cerebral peduncle , cerebellum , radiology , encephalopathy , carnitine , pathology , internal capsule
BACKGROUND AND PURPOSE We presented MRI and DWI findings of a 12‐year‐old boy with primary carnitine deficiency, manifested with hypoglycemic hypoketotic encephalopathy. METHODS Magnetic resonance imaging (MRI) and diffusion weighted imaging (DWI) were performed to the patient. RESULTS In 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. CONCLUSIONS MRI and DWI are helpful in the diagnosis, therapy planning and follow up of encephalopathic cases with carnitine deficiency.