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Childhood hearing loss is a key feature of CAPOS syndrome: A case report
- Source :
- International Journal of Pediatric Otorhinolaryngology, Vol. 104, p. 191-194 (2018)
- Publication Year :
- 2018
- Publisher :
- Elsevier BV, 2018.
-
Abstract
- 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.
- Subjects :
- 0301 basic medicine
medicine.medical_specialty
Pes cavus
Areflexia
Cerebellar Ataxia
Foot Deformities, Congenital
Hearing loss
Hearing Loss, Sensorineural
Neurological disorder
Audiology
Auditory neuropathy
Diagnosis, Differential
CAPOS
03 medical and health sciences
0302 clinical medicine
Atrophy
ATP1A3
otorhinolaryngologic diseases
medicine
Humans
Optic atrophy
Child
Reflex, Abnormal
Cerebellar ataxia
business.industry
Hearing Tests
General Medicine
medicine.disease
Optic Atrophy
030104 developmental biology
Otorhinolaryngology
Mutation
Pediatrics, Perinatology and Child Health
Female
Ataxia
Sensorineural hearing loss
Sodium-Potassium-Exchanging ATPase
medicine.symptom
Differential diagnosis
business
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 01655876
- Volume :
- 104
- Database :
- OpenAIRE
- Journal :
- International Journal of Pediatric Otorhinolaryngology
- Accession number :
- edsair.doi.dedup.....9c3dc5eaa2c69180405c8f3119e4326b