کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8806462 | 1605964 | 2018 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Childhood hearing loss is a key feature of CAPOS syndrome: A case report
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کلمات کلیدی
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
بیماری های گوش و جراحی پلاستیک صورت
پیش نمایش صفحه اول مقاله
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چکیده انگلیسی
CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare neurological disorder, recently associated with the c.2452GÂ >Â A hotspot mutation in the ATP1A3 gene, with sensorineural hearing loss as a prominent feature. We herein report on a girl who has experienced hearing loss for three years following an initial encephalitic episode when aged 15 months old. CAPOS was diagnosed only when she was six years old by targeted testing whilst she displayed optic atrophy, cerebellar signs and areflexia. CAPOS syndrome should be considered in the differential diagnosis of acquired childhood deafness, prompting clinicians to search for associated neurological features.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: International Journal of Pediatric Otorhinolaryngology - Volume 104, January 2018, Pages 191-194
Journal: International Journal of Pediatric Otorhinolaryngology - Volume 104, January 2018, Pages 191-194
نویسندگان
Stéphanie Paquay, Elsa Wiame, Naima Deggouj, Antonella Boschi, Romolo Daniele De Siati, Yves Sznajer, Marie-Cécile Nassogne,