title: MRI findings in encephalopathy with primary carnitine deficiency: a case report.
abstract: OBJECTIVE
  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.
authors.affiliation: Bezmialem Vakif University School of Medicine, Department of Radiology, İstanbul/Turkey.
authors.forename: Temel Fatih
authors.initials: TF
authors.lastname: Yilmaz
authors.affiliation: Bezmialem Vakif University School of Medicine, Department of Radiology, İstanbul/Turkey.
authors.forename: Musa
authors.initials: M
authors.lastname: Atay
authors.affiliation: Bezmialem Vakif University School of Medicine, Department of Radiology, İstanbul/Turkey.
authors.forename: Huseyin
authors.initials: H
authors.lastname: Toprak
authors.affiliation: Bezmialem Vakif University School of Medicine, Department of Pediatric Neurology, İstanbul/Turkey.
authors.forename: Serhat
authors.initials: S
authors.lastname: Guler
authors.affiliation: Bezmialem Vakif University School of Medicine, Department of Radiology, İstanbul/Turkey.
authors.forename: Ayse
authors.initials: A
authors.lastname: Aralasmak
authors.affiliation: Bezmialem Vakif University School of Medicine, Department of Radiology, İstanbul/Turkey.
authors.forename: Alpay
authors.initials: A
authors.lastname: Alkan
mesh_terms: D001921:Brain / Q000473:pathology*; D009202:Cardiomyopathies / Q000150:complications* / Q000473:pathology*; D002331:Carnitine / Q000172:deficiency*; D002648:Child; D003937:Diagnosis, Differential; D038524:Diffusion Magnetic Resonance Imaging / Q000379:methods*; D006801:Humans; D022124:Hyperammonemia / Q000150:complications* / Q000473:pathology*; D007003:Hypoglycemia / Q000209:etiology* / Q000473:pathology*; D008297:Male; D009135:Muscular Diseases / Q000150:complications* / Q000473:pathology*
chemical_list: D002331:Carnitine
keywords: MRI; encephalopathy; primary carnitine deficiency