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

被引：6

作者：

Paquay, Stephanie ^{[1
]}

Wiame, Elsa ^{[2
]}

Deggouj, Naima ^{[3
]}

Boschi, Antonella ^{[4
]}

De Siati, Romolo Daniele ^{[3
]}

Sznajer, Yves ^{[5
]}

Nassogne, Marie-Cecile ^{[1
]}

机构：

[1] Catholic Univ Louvain, Clin Univ St Luc, Pediat Neurol Unit, Brussels, Belgium

[2] Catholic Univ Louvain, Inst Duve, Lab Physiol Chem, Brussels, Belgium

[3] Catholic Univ Louvain, Clin Univ St Luc, Dept Oto Rhino Laryngol & Neck Surg, Brussels, Belgium

[4] Catholic Univ Louvain, Clin Univ St Luc, Ophthalmol Unit, Brussels, Belgium

[5] Catholic Univ Louvain, Clin Univ St Luc, Ctr Human Genet, Brussels, Belgium

来源：

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY | 2018年 / 104卷

关键词：

CAPOS; Hearing loss; Auditory neuropathy; Optic atrophy; Ataxia; Areflexia; CEREBELLAR-ATAXIA; GUILLAIN-BARRE; OPTIC ATROPHY; ATP1A3; GENE; AREFLEXIA; MUTATION;

D O I：

10.1016/j.ijporl.2017.11.022

中图分类号：

R76 [耳鼻咽喉科学];

学科分类号：

100213 ;

摘要：

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.

引用

页码：191 / 194

页数：4

共 16 条

[1] Miller Fisher syndrome: brief overview and update with a focus on electrophysiological findings [J].

Aranyi, Z. ;

Kovacs, T. ;

Sipos, I. ;

Bereczki, D. .

EUROPEAN JOURNAL OF NEUROLOGY, 2012, 19 (01) :15-E3

[2] A novel recurrent mutation in ATP1A3 causes CAPOS syndrome [J].

Demos, Michelle K. ;

van Karnebeek, Clara D. M. ;

Ross, Colin J. D. ;

Adam, Shelin ;

Shen, Yaoqing ;

Zhan, Shing Hei ;

Shyr, Casper ;

Horvath, Gabriella ;

Suri, Mohnish ;

Fryer, Alan ;

Jones, Steven J. M. ;

Friedman, Jan M. .

ORPHANET JOURNAL OF RARE DISEASES, 2014, 9

[3] Early Diagnosis of CAPOS Syndrome Before Acute-Onset Ataxia-Review of the Literature and a New Family [J].

Duat Rodriguez, Anna ;

Prochazkova, Michaela ;

Santos Santos, Saturnino ;

Rubio Cabezas, Oscar ;

Cantarin Extremera, Veronica ;

Gonzalez-Gutierrez-Solana, Luis .

PEDIATRIC NEUROLOGY, 2017, 71 :60-64

[4] CAOSEpisodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene [J].

Heimer, Gali ;

Sadaka, Yair ;

Israelian, Lori ;

Feiglin, Ariel ;

Ruggieri, Alessandra ;

Marshall, Christian R. ;

Scherer, Stephen W. ;

Ganelin-Cohen, Esther ;

Marek-Yagel, Dina ;

Tzadok, Michal ;

Nissenkorn, Andreea ;

Anikster, Yair ;

Minassian, Berge A. ;

Zeev, Bruria Ben .

JOURNAL OF CHILD NEUROLOGY, 2015, 30 (13) :1749-1756

[5] Insights into the Pathology of the α3 Na+/K+-ATPase Ion Pump in Neurological Disorders; Lessons from Animal Models [J].

Holm, Thomas H. ;

Lykke-Hartmann, Karin .

FRONTIERS IN PHYSIOLOGY, 2016, 7

[6] The Genetic Homogeneity of CAMS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene [J].

Maas, Roderick P. P. W. M. ;

Schieving, Jolanda H. ;

Schouten, Meyke ;

Kamsteeg, Erik-Jan ;

van de Warrenburg, Bart P. C. .

PEDIATRIC NEUROLOGY, 2016, 59 :71-75

[7] Distribution of the Na,K-ATPase α Subunit in the Rat Spiral Ganglion and Organ of Corti [J].

McLean, Will J. ;

Smith, K. Anne ;

Glowatzki, Elisabeth ;

Pyott, Sonja J. .

JARO-JOURNAL OF THE ASSOCIATION FOR RESEARCH IN OTOLARYNGOLOGY, 2009, 10 (01) :37-49

[8] Association of PRPS1 Mutations with Disease Phenotypes [J].

Mittal, Rahul ;

Patel, Kunal ;

Mittal, Jeenu ;

Chan, Brandon ;

Yan, Denise ;

Grati, M'hamed ;

Liu, Xue Zhong .

DISEASE MARKERS, 2015, 2015

[9] Auditory neuropathy - neural and synaptic mechanisms [J].

Moser, Tobias ;

Starr, Arnold .

NATURE REVIEWS NEUROLOGY, 2016, 12 (03) :135-149

[10] Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): A new syndrome [J].

Nicolaides, P ;

Appleton, RE ;

Fryer, A .

JOURNAL OF MEDICAL GENETICS, 1996, 33 (05) :419-421

← 1 2 →