Sjogren-Larsson syndrome: A case report of a rare disease
Indian Dermatology Online Journal, 2011 We report a case of Sjogren-Larsson syndrome with clinical profile (spastic diplegia, icthyosis, mental retardation) and imaging findings on magnetic resonance imaging.
S P Gupta +3 more
doaj +6 more sources
A rare case of Sjogren-Larsson syndrome with recurrent pneumonia and asthma [PDF]
Korean Journal of Pediatrics, 2016 Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder with worldwide incidence of 0.4 per 100,000 people. It is characterized by the triad of congenital ichthyosis, spastic diplegia or quadriplegia, and mental retardation ...
Azita Tavasoli +2 more
doaj +6 more sources
Sjogren-Larsson Syndrome: Mechanisms and Management [PDF]
The Application of Clinical Genetics, 2020 Parayil Sankaran Bindu TY Nelson Department of Neurology and Neurosurgery, Children’s Hospital at Westmead, Sydney, NSW, AustraliaCorrespondence: Parayil Sankaran Bindu Email Bindu.parayilsankaran@health.nsw.gov.auAbstract: Sjogren Larsson syndrome
Bindu PS
doaj +6 more sources
Beyond retina in Sjogren–Larsson syndrome [PDF]
Indian Journal of Ophthalmology, 2022 Neelam Pawar +5 more
doaj +4 more sources
Sjogren – Larsson Syndrome [PDF]
Medical Journal Armed Forces India, 2002 Sjogren-Larsson Syndrome is a rare autosomal disorder which occurs with 100% penetrance and is classically characterized by ichthyosis, spasticity and mental handicap. This has rarely been described in people of Indian origin, case reports mainly being restricted to Caucasians.
Dubey AK, Gupta RK, Gupta A.
exaly +7 more sources
OPHTHALMIC FINDINGS IN LATE STAGE SJOGREN–LARSSON SYNDROME [PDF]
Retinal Cases and Brief Reports, 2019 Purpose: To report spectral domain optical coherence tomography and fundus autofluorescence documentation of late stage macular findings associated with Sjogren–Larsson Syndrome in three adult siblings. Methods: Three adult siblings with Sjogren–Larsson Syndrome underwent ophthalmic
Tavish Nanda, Jaclyn L Kovach
exaly +5 more sources
Sjogren-Larsson syndrome brain volumetric reductions demonstrated with an automated software [PDF]
Arquivos de Neuro-Psiquiatria, 2023 Background Sjogren-Larsson syndrome (SLS) is a neurocutaneous disease with an autosomal recessive inheritance, caused by mutations in the gene that encodes fatty aldehyde dehydrogenase (ALDH3A2), clinically characterized by ichthyosis, spastic
José Thiago de Souza de Castro +6 more
doaj +2 more sources
Retinal Capillary Abnormalities in Sjögren-Larsson Syndrome Maculopathy [PDF]
Case Reports in Ophthalmology, 2022 Sjögren-Larsson syndrome (SLS) is a neurometabolic disease with a peculiar crystalline maculopathy. It is yet unclear if vascular abnormalities play a role in SLS maculopathy pathogenesis.
Pippa Staps +4 more
doaj +2 more sources
Sjögren-Larsson syndrome: A biochemical rationale for using aldehyde-reactive therapeutic agents [PDF]
Molecular Genetics and Metabolism Reports, 2022 Sjögren-Larsson syndrome (SLS) is a neurocutaneous disease caused by mutations in ALDH3A2 that result in deficient fatty aldehyde dehydrogenase (FALDH) activity and impaired fatty aldehyde and fatty alcohol oxidation.
William B. Rizzo +3 more
doaj +2 more sources
Untargeted Metabolomic Analysis of Sjögren–Larsson Syndrome Reveals a Distinctive Pattern of Multiple Disrupted Biochemical Pathways [PDF]
Metabolites, 2023 Sjögren–Larsson syndrome (SLS) is a rare inherited neurocutaneous disease characterized by ichthyosis, spastic diplegia or tetraplegia, intellectual disability and a distinctive retinopathy.
Hongying Daisy Dai +4 more
doaj +2 more sources