کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3053918 | 1580030 | 2012 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
A rare cause of facial nerve palsy in children: Hyperostosis corticalis generalisata (Van Buchem disease). Three new pediatric cases and a literature review
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کلمات کلیدی
BMDPINPProcollagen type I N-terminal propeptide (PINP)SctxVan Buchem diseasebone-specific alkaline phosphatase - آلکالن فسفاتاز ویژه استخوانPediatric population - اطفال اطفالBone mineral density - تراکم معدنی استخوانcomputerized tomography - توموگرافی کامپیوتریFacial nerve palsy - فلج عصبی صورتcranial neuropathy - نوروپاتی جمجمه
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
Differential diagnosis of facial nerve palsy in children is extensive. We report on three pediatric cases presenting with facial nerve palsy caused by hyperostosis corticalis generalisata (Van Buchem disease). This autosomal recessive disease is characterized by progressive bone overgrowth, with narrowing of the neuroforamina in the skull causing cranial neuropathies. These three new cases of Van Buchem disease are of interest because of exceptionally early presentation of symptoms. Furthermore, this is the first report describing bilateral papilledema in a child with Van Buchem disease. Head computerized tomography (CT) scan revealed thickened calvarium, skull base and mandible in all three children, with narrowed facial nerve canals. Bone mineral density (BMD) was markedly increased at all measured points and biochemical markers of bone formation were significantly elevated. Diagnosis of Van Buchem disease was genetically confirmed. The cases are unique in that these are the first well-documented pediatric cases of Van Buchem disease.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Paediatric Neurology - Volume 16, Issue 6, November 2012, Pages 740-743
Journal: European Journal of Paediatric Neurology - Volume 16, Issue 6, November 2012, Pages 740-743
نویسندگان
M.E. van Egmond, F.G. Dikkers, A.M. Boot, A.H.J.M. van Lierop, S.E. Papapoulos, O.F. Brouwer,