Sjögren-Larsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. Herein, we describe a case of a Greek patient with ichthyosis and spasticity of the legs but with normal intelligence (IQ 95). This syndrome should be suspected when a child presents with ichthyosis and spastic diplegia or tetraplegia, even if int...

A Síndrome de Sjögren-Larsson (SSL) foi descrita pela primeira vez em 1957 e até os dias atuais é pouco conhecida. Trata-se um distúrbio autossômico recessivo caracterizado por uma desordem neurocutânea rara. principal manifestação consiste-se tríade clássica que engloba: ictiose congênita, desenvolvimento paraplegia ou tetraplegia retardo mental. Os pacientes com SSL apresentam mutação no gene...

Necropsy material from the eye of a 23-year-old male known to have suffered from the Sjögren-Larsson syndrome, characterised by mental retardation, spastic diplegia or tetraplegia, congenital ichthyosis, and so-called glistening dots in the foveal and parafoveal areas of the fundus of the eye, was investigated ultrastructurally. The retinal pigment epithelium in the macular area showed a signif...