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Atypical Presentation of Sjögren-Larsson Syndrome.

ΤίτλοςAtypical Presentation of Sjögren-Larsson Syndrome.
Publication TypeJournal Article
Year of Publication2017
AuthorsPapathemeli, D., Mataftsi A., Patsatsi A., Sotiriadis D., Samouilidou M., Chondromatidou S., & Evangeliou A.
JournalCase Rep Pediatr
Volume2017
Pagination7981750
Date Published2017
ISSN2090-6803
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.

DOI10.1155/2017/7981750
Alternate JournalCase Rep Pediatr
PubMed ID29181214
PubMed Central IDPMC5664252

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