کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5503153 | 1535092 | 2016 | 10 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Congenital insensitivity to pain and anhidrosis: Case report and review of findings along neuro-immune axis in the disorder
ترجمه فارسی عنوان
عدم حساسیت مادرزادی به درد و آنیدروزی: گزارش مورد و بررسی یافته ها در امتداد عصبی-ایمنی در این اختلال
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
سالمندی
چکیده انگلیسی
Congenital insensitivity to pain and anhidrosis (CIPA) is one of the hereditary autonomic and sensory neuropathies. Typically presenting in infancy, it manifests as hyperpyrexia from defects in sweating (autonomic) and self-mutilating injuries from pain insensitivity (sensory). CIPA being rare in North America, diagnosis is often missed due to variable presentation. Subsequent management of its complications is therefore delayed. We report an unusual presentation in a 2-year-old girl with preexisting diagnosis of CIPA who was evaluated for bilateral upper extremity paresis of insidious onset. MRI revealed a mass compressing her cervical spine as the cause, and work up suggested immune dysfunction as possible etiology. To our knowledge, this complication has not been reported before in association with the disease. We introduce the disease by explaining the molecular pathology behind its presenting features. The neurological findings, documented in association with CIPA, are summarized and serve as a reference for the various presentations of this rare disorder. Since this disease is known to affect the immune system, immune defects in CIPA are discussed with recommendations for surveillance of patient's immune status.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of the Neurological Sciences - Volume 370, 15 November 2016, Pages 201-210
Journal: Journal of the Neurological Sciences - Volume 370, 15 November 2016, Pages 201-210
نویسندگان
Aditi Vian MD, Lori MD, Michael MD, Ann MD,