A Neurodegenerative Phenotype Associated With Sjögren-Larsson Syndrome

Simone Warrack, Terri Love, William B. Rizzo

Research output: Contribution to journalArticlepeer-review


Sjögren-Larsson syndrome (SLS) is a rare neurologic disorder caused by pathogenic sequence variants in ALDH3A2 and characterized by ichthyosis, spasticity, intellectual disability, and a crystalline retinopathy. Neurologic symptoms develop in the first 2 years of life. Except for worsening ambulation due to spastic diplegia and contractures, the neurologic disease has been considered static and a neurodegenerative course is distinctly unusual. We describe a young child with Sjögren-Larsson syndrome who exhibited an early and severely progressive neurologic phenotype that may have been triggered by a febrile rotavirus infection. Together with 7 additional published cases of these atypical patients, we emphasize that a neurodegenerative course can be an extreme outcome for a minority of patients with Sjögren-Larsson syndrome.

Original languageEnglish (US)
Pages (from-to)1011-1016
Number of pages6
JournalJournal of Child Neurology
Issue number11
StatePublished - Oct 2021


  • ichthyosis
  • intellectual disability
  • leukodystrophy
  • myelin
  • spasticity

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology


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