کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3038272 | 1184456 | 2007 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Neurological presentation of Griscelli syndrome: Obstructive hydrocephalus without haematological abnormalities or organomegaly
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موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب تکاملی
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چکیده انگلیسی
Griscelli syndrome is a rare autosomal-recessive disorder characterised by partial albinism, immunodeficiency, organomegaly and accelerated phases. During accelerated phases, pancytopenia, haemophagocytosis, hypoproteinemeia occur which may be accompanied by neurological deterioration. Primary neurological presentation is rare and we report a case that presented with obstructive hydrocephalus and infiltrative lesions in the brain unaccompanied by other features of accelerated phase. Biopsy of these lesions demonstrated sinus histiocytosis. Electron microscopy of hair shaft and genetic studies established the diagnosis of Griscelli disease with RAB 27A mutation.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Brain and Development - Volume 29, Issue 4, May 2007, Pages 247–250
Journal: Brain and Development - Volume 29, Issue 4, May 2007, Pages 247–250
نویسندگان
Mamata Rajadhyax, Gayatri Neti, Yanick Crow, Atul Tyagi,