Sjögren-Larsson syndrome in two brothers: a case report

Autor:	Mahsa Asheghan, Farid Safar, Fatemeh Dehghani Zade, Zahra Reza Soltani, Farid Rezaei Moghaddam
Jazyk:	angličtina
Předmět:	Medicine(all) Pediatrics medicine.medical_specialty Sjögren–Larsson syndrome business.industry General Medicine medicine.disease Congenital ichthyosis Spastic diplegia Case report medicine Rare syndrome business human activities
Zdroj:	Cases Journal
ISSN:	1757-1626
DOI:	10.4076/1757-1626-2-8434
Popis:	Sjogren-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.
Databáze:	OpenAIRE
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