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Παρασκευή 15 Δεκεμβρίου 2017

Childhood hearing loss is a key feature of CAPOS syndrome: A case report

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Publication date: January 2018
Source:International Journal of Pediatric Otorhinolaryngology, Volume 104
Author(s): Stéphanie Paquay, Elsa Wiame, Naima Deggouj, Antonella Boschi, Romolo Daniele De Siati, Yves Sznajer, Marie-Cécile Nassogne
CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare neurological disorder, recently associated with the c.2452G > 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.



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