Login / Signup

Atypical Presentation of Sjögren-Larsson Syndrome.

D PapathemeliA MataftsiAikaterini PatsatsiD SotiriadisM SamouilidouS ChondromatidouA Evangeliou
Published in: Case reports in pediatrics (2017)
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.
Keyphrases
  • intellectual disability
  • case report
  • cerebral palsy
  • botulinum toxin
  • autism spectrum disorder
  • upper limb
  • spinal cord injury
  • mental health
  • disease activity
  • rheumatoid arthritis
  • systemic lupus erythematosus