کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
9988926 | 1580079 | 2005 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Peripheral neuropathy-a novel finding in dyskeratosis congenita
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب تکاملی
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چکیده انگلیسی
We report the case of a 3.5-year-old boy who presented with truncal ataxia, microcephaly and delayed global development in infancy. Hypoplasia of cerebellum and corpus callosum and delayed myelination were found on brain MRI. Failure to thrive, sparse hairs and dystrophic nails became evident at the age of 2 years. He subsequently developed bleeding tendency, thrombocytopenia and hypocellularity on bone marrow examination leading to a diagnosis of dyskeratosis congenita. Impaired pain perception with slowing of nerve conduction velocities was demonstrated, suggesting a mild peripheral neuropathy. To the best of our knowledge, peripheral neuropathy has never been reported as a feature of the congenital form of dyskeratosis congenita.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Paediatric Neurology - Volume 9, Issue 2, March 2005, Pages 85-89
Journal: European Journal of Paediatric Neurology - Volume 9, Issue 2, March 2005, Pages 85-89
نویسندگان
Patrick Ip, Ravi Knight, Inderjeet Dokal, Adnan Y. Manzur, Francesco Muntoni,