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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Detalles Bibliográficos
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
Descripción
Sumario: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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