کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8283313 | 1535178 | 2009 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Cystinosis of the brain and spinal cord with associated vasculopathy
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موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
سالمندی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Cystinosis of the brain and spinal cord with associated vasculopathy Cystinosis of the brain and spinal cord with associated vasculopathy](/preview/png/8283313.png)
چکیده انگلیسی
Cystinosis is an autosomal recessive lysosomal storage disease that results in renal failure. CNS manifestations are rare. We report a 29-year man who presented with a cervical myelopathy due to cystinosis. Biopsy of the brain lesions demonstrated cystine crystal deposition and an intense perivascular with inflammatory vasculopathic changes. Symptomatic improvement attended the use of higher doses of cysteamine and corticosteroid therapy. Cystinosis of the nervous system may present as spinal cord disease and be associated with a CNS vasculopathy/vasculitis. As more patients with cystinosis experience long term survival, there will likely be an increased frequency of CNS disease.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of the Neurological Sciences - Volume 284, Issues 1â2, 15 September 2009, Pages 182-185
Journal: Journal of the Neurological Sciences - Volume 284, Issues 1â2, 15 September 2009, Pages 182-185
نویسندگان
Joseph R. Berger, Donita A. Dillon, Byron A. Young, Steven J. Goldstein, Peter Nelson,