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

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.
PMID
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Authors

Mayor MeshTerms
Keywords

Areflexia

Ataxia

Auditory neuropathy

CAPOS

Hearing loss

Optic atrophy

Journal Title international journal of pediatric otorhinolaryngology
Publication Year Start




PMID- 29287866
OWN - NLM
STAT- In-Process
LR  - 20171230
IS  - 1872-8464 (Electronic)
IS  - 0165-5876 (Linking)
VI  - 104
DP  - 2018 Jan
TI  - Childhood hearing loss is a key feature of CAPOS syndrome: A case report.
PG  - 191-194
LID - S0165-5876(17)30565-7 [pii]
LID - 10.1016/j.ijporl.2017.11.022 [doi]
AB  - 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.
CI  - Copyright (c) 2017 Elsevier B.V. All rights reserved.
FAU - Paquay, Stephanie
AU  - Paquay S
AD  - Pediatric Neurology Unit, Cliniques Universitaires Saint-Luc, Universite
      Catholique de Louvain, Brussels, Belgium. Electronic address:
      [email protected]
FAU - Wiame, Elsa
AU  - Wiame E
AD  - Laboratory of Physiological Chemistry, Institut de Duve, Universite Catholique de
      Louvain, Brussels, Belgium.
FAU - Deggouj, Naima
AU  - Deggouj N
AD  - Department of Oto-Rhino-Laryngology and Neck Surgery, Cliniques Universitaires
      Saint-Luc, Universite Catholique de Louvain, Brussels, Belgium.
FAU - Boschi, Antonella
AU  - Boschi A
AD  - Ophthalmology Unit, Cliniques Universitaires Saint-Luc, Universite Catholique de 
      Louvain, Brussels, Belgium.
FAU - De Siati, Romolo Daniele
AU  - De Siati RD
AD  - Department of Oto-Rhino-Laryngology and Neck Surgery, Cliniques Universitaires
      Saint-Luc, Universite Catholique de Louvain, Brussels, Belgium.
FAU - Sznajer, Yves
AU  - Sznajer Y
AD  - Center for Human Genetics, Cliniques Universitaires Saint-Luc, Universite
      Catholique de Louvain, Brussels, Belgium.
FAU - Nassogne, Marie-Cecile
AU  - Nassogne MC
AD  - Pediatric Neurology Unit, Cliniques Universitaires Saint-Luc, Universite
      Catholique de Louvain, Brussels, Belgium.
LA  - eng
PT  - Journal Article
DEP - 20171122
PL  - Ireland
TA  - Int J Pediatr Otorhinolaryngol
JT  - International journal of pediatric otorhinolaryngology
JID - 8003603
OTO - NOTNLM
OT  - Areflexia
OT  - Ataxia
OT  - Auditory neuropathy
OT  - CAPOS
OT  - Hearing loss
OT  - Optic atrophy
EDAT- 2017/12/31 06:00
MHDA- 2017/12/31 06:00
CRDT- 2017/12/31 06:00
PHST- 2017/09/10 00:00 [received]
PHST- 2017/11/17 00:00 [revised]
PHST- 2017/11/18 00:00 [accepted]
PHST- 2017/12/31 06:00 [entrez]
PHST- 2017/12/31 06:00 [pubmed]
PHST- 2017/12/31 06:00 [medline]
AID - S0165-5876(17)30565-7 [pii]
AID - 10.1016/j.ijporl.2017.11.022 [doi]
PST - ppublish
SO  - Int J Pediatr Otorhinolaryngol. 2018 Jan;104:191-194. doi:
      10.1016/j.ijporl.2017.11.022. Epub 2017 Nov 22.