15 citations
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October 2012 in “Journal of child neurology”
In this study, two unrelated Honduran patients with Sjögren-Larssonsyndrome had the same genetic mutation but displayed different disease severities, suggesting that factors beyond the ALDH3A2 mutation influence clinical outcome.
8 citations
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November 2009 in “The Neurologist/The neurologist”
This case report highlights a 21-year-old woman with seizures, mental retardation, spastic diplegia, and ichthyosis consistent with Sjogren-Larssonsyndrome, and emphasizes the importance of differential diagnosis when additional symptoms are present.
July 2026 in “Clinical Cosmetic and Investigational Dermatology”
In this case report, a 9-year-old boy with Sjogren-Larssonsyndrome was also diagnosed with central precocious puberty, showing genetic mutations and increased hormone levels; he was treated with triptorelin acetate for CPP but experienced growth delay during follow-up.