کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3054203 1580044 2010 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Two unusual clinical and radiological presentations of biotinidase deficiency
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
Two unusual clinical and radiological presentations of biotinidase deficiency
چکیده انگلیسی

Biotinidase deficiency is due to a defect in recycling of biotin and is a treatable autosomal recessive inherited disorder.We describe two cases with unusual presenting symptoms and rarely described MRI findings.We propose that the diagnosis of biotinidase deficiency should be considered when there are symmetrical MRI changes in the medial thalamus, dorsal brainstem, medulla and spinal cord as in our two cases.As long as there isn't newborn screening for biotinidase deficiency in the UK; increased awareness of this disorder and recognition of biotinidase deficiency as a cause of bilateral symmetrical MRI patterns similar to our patients, would facilitate early diagnosis and prevent many of the devastating neurological sequelae associated with missing the condition.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Paediatric Neurology - Volume 14, Issue 6, November 2010, Pages 535–538
نویسندگان
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