Sjögren-Larsson syndrome in two brothers: a case report
نویسندگان
چکیده
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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Identification of a novel deletion within ALDH3A2 gene in an Iranian Family with Sjögren–Larsson Syndrome
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