کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
10883078 | 1078347 | 2013 | 8 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
MRI of the brain in childhood-onset mitochondrial disorders with central nervous system involvement
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
بیوفیزیک
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چکیده انگلیسی
We retrospectively studied the brain MRIs of 66 pediatric patients with mitochondrial disorder with central nervous system involvement. Forty-one patients had an identified genetic etiology. A predominance of cerebrocortical lesions was mainly seen in patients with MELAS and Alpers syndrome. Basal ganglia were predominantly affected in patients with Leigh syndrome. All patients with leukoencephalopathy had pathological spectroscopy. Cerebrocortical atrophy with agenesis/atrophy of the corpus callosum was seen in patients with congenital lactic acidosis with or without pyruvate dehydrogenase complex deficiency. The diagnostic approach used in our study - from the neuroanatomical/neurofunctional lesion to disease identification - assists the physician in the use of brain neuroimaging early in the diagnostic work-up of suspected mitochondrial disorders.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Mitochondrion - Volume 13, Issue 4, July 2013, Pages 364-371
Journal: Mitochondrion - Volume 13, Issue 4, July 2013, Pages 364-371
نویسندگان
Kalliopi Sofou, Karin Steneryd, Lars-Martin Wiklund, Már Tulinius, Niklas Darin,