15 citations
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October 2012 in “Journal of child neurology” In this study, two unrelated Honduran patients with Sjögren-Larsson syndrome 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-Larsson syndrome, and emphasizes the importance of differential diagnosis when additional symptoms are present.
2 citations
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December 1997 in “Journal of The American Academy of Dermatology” The document concludes that doctors should monitor children's brain development when treating hemangiomas with interferon alfa and consider stopping the treatment if problems arise, while also exploring drugs that might counteract side effects.
January 2025 in “Genetics in Medicine Open” This case report highlights a 33-year-old male initially misdiagnosed with Neuromyelitis Optica, whose symptoms may improve with biotin treatment due to late onset biotinidase deficiency.
In this study, radial shockwave therapy significantly improved muscle spasticity, ankle range of motion, and functional abilities in children with spastic cerebral palsy, suggesting it may help them achieve greater autonomy in daily activities.