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Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients

Wolcott-Rallison Syndrome is the commonest cause of neonatal diabetes in consanguineous families. It is associated with liver dysfunction, epiphyseal dysplasia, and developmental delay. It is caused by mutations in eukaryotic translation initiation factor 2-α kinase 3 (EIF2AK3). We report 4 children...

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Autores principales: Dias, R. P., Buchanan, C. R., Thomas, N., Lim, S., Solanki, G., Connor, SEJ, Barrett, T. G., Kapoor, R. R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4748609/
https://www.ncbi.nlm.nih.gov/pubmed/26860746
http://dx.doi.org/10.1186/s13023-016-0397-z
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author Dias, R. P.
Buchanan, C. R.
Thomas, N.
Lim, S.
Solanki, G.
Connor, SEJ
Barrett, T. G.
Kapoor, R. R.
author_facet Dias, R. P.
Buchanan, C. R.
Thomas, N.
Lim, S.
Solanki, G.
Connor, SEJ
Barrett, T. G.
Kapoor, R. R.
author_sort Dias, R. P.
collection PubMed
description Wolcott-Rallison Syndrome is the commonest cause of neonatal diabetes in consanguineous families. It is associated with liver dysfunction, epiphyseal dysplasia, and developmental delay. It is caused by mutations in eukaryotic translation initiation factor 2-α kinase 3 (EIF2AK3). We report 4 children with WRS and Os Odontoideum resulting in significant neurological compromise. This cervical spine abnormality has not previously been described in this syndrome. This additional evidence broadens the clinical spectrum of this syndrome and confirms the role of EIF2AK3 in skeletal development. Furthermore, Os Odontoideum needs to be actively screened for in WRS patients to prevent neurological and respiratory compromise.
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spelling pubmed-47486092016-02-11 Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients Dias, R. P. Buchanan, C. R. Thomas, N. Lim, S. Solanki, G. Connor, SEJ Barrett, T. G. Kapoor, R. R. Orphanet J Rare Dis Letter to the Editor Wolcott-Rallison Syndrome is the commonest cause of neonatal diabetes in consanguineous families. It is associated with liver dysfunction, epiphyseal dysplasia, and developmental delay. It is caused by mutations in eukaryotic translation initiation factor 2-α kinase 3 (EIF2AK3). We report 4 children with WRS and Os Odontoideum resulting in significant neurological compromise. This cervical spine abnormality has not previously been described in this syndrome. This additional evidence broadens the clinical spectrum of this syndrome and confirms the role of EIF2AK3 in skeletal development. Furthermore, Os Odontoideum needs to be actively screened for in WRS patients to prevent neurological and respiratory compromise. BioMed Central 2016-02-10 /pmc/articles/PMC4748609/ /pubmed/26860746 http://dx.doi.org/10.1186/s13023-016-0397-z Text en © Dias et al. 2016 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Letter to the Editor
Dias, R. P.
Buchanan, C. R.
Thomas, N.
Lim, S.
Solanki, G.
Connor, SEJ
Barrett, T. G.
Kapoor, R. R.
Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients
title Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients
title_full Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients
title_fullStr Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients
title_full_unstemmed Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients
title_short Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients
title_sort os odontoideum in wolcott-rallison syndrome: a case series of 4 patients
topic Letter to the Editor
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4748609/
https://www.ncbi.nlm.nih.gov/pubmed/26860746
http://dx.doi.org/10.1186/s13023-016-0397-z
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