Sjögren-Larsson syndrome in two brothers: a case report

Sjögren-Larsson syndrome is a rare autosomal recessive disorder that was originally recognized in the coexistence of congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation. We recently saw two cases with characteristic features of this rare syndrome. Two brothers aged 21 and...

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Autores principales: Moghaddam, Farid Rezaei, Safar, Farid, Asheghan, Mahsa, Soltani, Zahra Reza, Zade, Fatemeh Dehghani
Formato: Texto
Lenguaje:English
Publicado: Cases Network Ltd 2009
Materias:
Case report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2769442/
https://www.ncbi.nlm.nih.gov/pubmed/19918432
http://dx.doi.org/10.4076/1757-1626-2-8434
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author Moghaddam, Farid Rezaei
Safar, Farid
Asheghan, Mahsa
Soltani, Zahra Reza
Zade, Fatemeh Dehghani
author_facet Moghaddam, Farid Rezaei
Safar, Farid
Asheghan, Mahsa
Soltani, Zahra Reza
Zade, Fatemeh Dehghani
author_sort Moghaddam, Farid Rezaei
collection PubMed
description Sjögren-Larsson syndrome is a rare autosomal recessive disorder that was originally recognized in the coexistence of congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation. We recently saw two cases with characteristic features of this rare syndrome. Two brothers aged 21 and 25 years presented with triad of congenital ichthyosis, mental retardation and spastic diplegia. Magnetic resonance imaging showed demyelinating disease in one of these cases. Electrodiagnostic studies were normal in all cases.
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spelling pubmed-27694422009-11-16 Sjögren-Larsson syndrome in two brothers: a case report Moghaddam, Farid Rezaei Safar, Farid Asheghan, Mahsa Soltani, Zahra Reza Zade, Fatemeh Dehghani Cases J Case report Sjögren-Larsson syndrome is a rare autosomal recessive disorder that was originally recognized in the coexistence of congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation. We recently saw two cases with characteristic features of this rare syndrome. Two brothers aged 21 and 25 years presented with triad of congenital ichthyosis, mental retardation and spastic diplegia. Magnetic resonance imaging showed demyelinating disease in one of these cases. Electrodiagnostic studies were normal in all cases. Cases Network Ltd 2009-09-09 /pmc/articles/PMC2769442/ /pubmed/19918432 http://dx.doi.org/10.4076/1757-1626-2-8434 Text en © 2009 Moghaddam et al.; licensee Cases Network Ltd. http://creativecommons.org/licenses/by/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case report
Moghaddam, Farid Rezaei
Safar, Farid
Asheghan, Mahsa
Soltani, Zahra Reza
Zade, Fatemeh Dehghani
Sjögren-Larsson syndrome in two brothers: a case report
title Sjögren-Larsson syndrome in two brothers: a case report
title_full Sjögren-Larsson syndrome in two brothers: a case report
title_fullStr Sjögren-Larsson syndrome in two brothers: a case report
title_full_unstemmed Sjögren-Larsson syndrome in two brothers: a case report
title_short Sjögren-Larsson syndrome in two brothers: a case report
title_sort sjögren-larsson syndrome in two brothers: a case report
topic Case report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2769442/
https://www.ncbi.nlm.nih.gov/pubmed/19918432
http://dx.doi.org/10.4076/1757-1626-2-8434
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AT asheghanmahsa sjogrenlarssonsyndromeintwobrothersacasereport
AT soltanizahrareza sjogrenlarssonsyndromeintwobrothersacasereport
AT zadefatemehdehghani sjogrenlarssonsyndromeintwobrothersacasereport

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