MRI Findings in Encephalopathy with Primary Carnitine Deficiency: A Case Report. Issue 2 (10th March 2014)

• Record Type: Journal Article
• Authors: Yilmaz, Temel Fatih; Atay, Musa; Toprak, Huseyin; Guler, Serhat; Aralasmak, Ayse; Alkan, Alpay
• Is Part Of: Journal of neuroimaging. Volume 25:Issue 2(2015)
• Page Start: 325
• Page End: 328
• Publication Date: 2014-03-10
• Subjects: Diagnostic imaging -- Periodicals; Nervous system -- Diseases -- Diagnosis -- Periodicals; Imagerie pour le diagnostic -- Périodiques; Système nerveux -- Maladies -- Diagnostic -- Périodiques; Imagerie médicale; Neuroimagerie; Neurologie; Système nerveux; Périodique électronique (Descripteur de forme); Ressource Internet (Descripteur de forme); 616.804754
• DOI: 10.1111/jon.12102
• Languages: English
• ISSNs: 1051-2284

Abstract

<abstract abstract-type="main"> <title>ABSTRACT</title> <sec id="jon12102-sec-0010" sec-type="section"> <title>BACKGROUND AND PURPOSE</title> <p>We presented MRI and DWI findings of a 12‐year‐old boy with primary carnitine deficiency, manifested with hypoglycemic hypoketotic encephalopathy.</p> </sec> <sec id="jon12102-sec-0020" sec-type="section"> <title>METHODS</title> <p>Magnetic resonance imaging (MRI) and diffusion weighted imaging (DWI) were performed to the patient.</p> </sec> <sec id="jon12102-sec-0030" sec-type="section"> <title>RESULTS</title> <p>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.</p> </sec> <sec id="jon12102-sec-0040" sec-type="section"> <title>CONCLUSIONS</title> <p>MRI and DWI are helpful in the diagnosis, therapy planning and follow up of encephalopathic cases with carnitine deficiency.</p> </sec> </abstract>