Sjögren-Larsson syndrome in two brothers: a case report.

Cases Journal
Farid Rezaei MoghaddamFatemeh Dehghani Zade

Abstract

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.

References

Mar 8, 2000·Neuropediatrics·M A WillemsenR C Sengers
Apr 4, 2002·Indian Journal of Pediatrics·Meena SoodR K Marwaha
Aug 19, 2006·Arquivos de neuro-psiquiatria·Mauro NakayamaRômulo L Gama

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Citations

Apr 8, 2014·Revue neurologique·H ZribiA Ben Osman
Jan 30, 2018·Clinical Case Reports·Maryam TaghdiriMohammad Miryounesi

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Methods Mentioned

BETA
biopsy

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