Atypical Presentation of Sjögren-Larsson Syndrome.
| Τίτλος | Atypical Presentation of Sjögren-Larsson Syndrome. |
| Publication Type | Journal Article |
| Year of Publication | 2017 |
| Authors | Papathemeli, D., Mataftsi A., Patsatsi A., Sotiriadis D., Samouilidou M., Chondromatidou S., & Evangeliou A. |
| Journal | Case Rep Pediatr |
| Volume | 2017 |
| Pagination | 7981750 |
| Date Published | 2017 |
| ISSN | 2090-6803 |
| Abstract | 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. |
| DOI | 10.1155/2017/7981750 |
| Alternate Journal | Case Rep Pediatr |
| PubMed ID | 29181214 |
| PubMed Central ID | PMC5664252 |
