Atypical Presentation of Sjögren-Larsson Syndrome

Sjögren-Larsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. Herein, we describe a case of a Greek patient with ichthyosis and spasticity of the legs but with normal intelligence (IQ 95). This syndrome should be...

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Autores principales: Papathemeli, D., Mataftsi, A., Patsatsi, A., Sotiriadis, D., Samouilidou, M., Chondromatidou, S., Evangeliou, A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5664252/
https://www.ncbi.nlm.nih.gov/pubmed/29181214
http://dx.doi.org/10.1155/2017/7981750
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author Papathemeli, D.
Mataftsi, A.
Patsatsi, A.
Sotiriadis, D.
Samouilidou, M.
Chondromatidou, S.
Evangeliou, A.
author_facet Papathemeli, D.
Mataftsi, A.
Patsatsi, A.
Sotiriadis, D.
Samouilidou, M.
Chondromatidou, S.
Evangeliou, A.
author_sort Papathemeli, D.
collection PubMed
description Sjögren-Larsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. Herein, we describe a case of a Greek patient with ichthyosis and spasticity of the legs but with normal intelligence (IQ 95). This syndrome should be suspected when a child presents with ichthyosis and spastic diplegia or tetraplegia, even if intelligence is normal.
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spelling pubmed-56642522017-11-27 Atypical Presentation of Sjögren-Larsson Syndrome Papathemeli, D. Mataftsi, A. Patsatsi, A. Sotiriadis, D. Samouilidou, M. Chondromatidou, S. Evangeliou, A. Case Rep Pediatr Case Report Sjögren-Larsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. Herein, we describe a case of a Greek patient with ichthyosis and spasticity of the legs but with normal intelligence (IQ 95). This syndrome should be suspected when a child presents with ichthyosis and spastic diplegia or tetraplegia, even if intelligence is normal. Hindawi 2017 2017-10-18 /pmc/articles/PMC5664252/ /pubmed/29181214 http://dx.doi.org/10.1155/2017/7981750 Text en Copyright © 2017 D. Papathemeli et al. http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Papathemeli, D.
Mataftsi, A.
Patsatsi, A.
Sotiriadis, D.
Samouilidou, M.
Chondromatidou, S.
Evangeliou, A.
Atypical Presentation of Sjögren-Larsson Syndrome
title Atypical Presentation of Sjögren-Larsson Syndrome
title_full Atypical Presentation of Sjögren-Larsson Syndrome
title_fullStr Atypical Presentation of Sjögren-Larsson Syndrome
title_full_unstemmed Atypical Presentation of Sjögren-Larsson Syndrome
title_short Atypical Presentation of Sjögren-Larsson Syndrome
title_sort atypical presentation of sjögren-larsson syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5664252/
https://www.ncbi.nlm.nih.gov/pubmed/29181214
http://dx.doi.org/10.1155/2017/7981750
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AT samouilidoum atypicalpresentationofsjogrenlarssonsyndrome
AT chondromatidous atypicalpresentationofsjogrenlarssonsyndrome
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