Atypical Presentation of Sjögren-Larsson Syndrome #MMPMID29181214
Papathemeli D; Mataftsi A; Patsatsi A; Sotiriadis D; Samouilidou M; Chondromatidou S; Evangeliou A
Case Rep Pediatr 2017[]; 2017 (ä): ä PMID29181214show ga
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 intelligence is normal.