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Case Studies | Pediatrics | Volume 11 Issue 3, March 2022 | Pages: 177 - 178 | India
Case Study on Rare Disease: Sjogren-Larsson Syndrome
Abstract: I report a case of Sj?gren-Larsson syndrome (SLS) which is a rare autosomal recessive disorder with clinical outline (spastic diplegia, icthyosis, mental retardation). So, basically this disorder characterized by triad of congenitalichthyosis, spastic paresis, and mental retardation. It is an inherited fault of lipid metabolism triggered by absenceof fatty aldehyde dehydrogenase enzyme.
Keywords: Sjogren-Larsson syndrome, Congenital ichthyosis, mental retardation, spastic paresis
How to Cite?: Dr. Vidit Chawda, Dr. Shailendra Khasavat, Dr. Khushbu Chaudhari, Dr. Jigisha Patadia, "Case Study on Rare Disease: Sjogren-Larsson Syndrome", Volume 11 Issue 3, March 2022, International Journal of Science and Research (IJSR), Pages: 177-178, https://www.ijsr.net/getabstract.php?paperid=MR22303145747, DOI: https://dx.doi.org/10.21275/MR22303145747