Staged Cataract Post Scar Removal: A Case Report

Gulani, Aaishwariya; Gulani, Arun

doi:10.7759/cureus.9145

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2023

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“…SLS is inherited in an autosomal recessive pattern with 100% disease penetrance [ 8 ]. This infers that the individual affected inherits the two defective genes from both parents and experiences symptoms of the disease [ 9 ]. SLS is commonly seen in consanguineously derived offspring where both parents are from the same pedigree and are carriers of the defective gene but do not express the phenotype of the disease themselves [ 5 ].…”

Section: Discussionmentioning

confidence: 99%

Sjögren-Larsson Syndrome: A Rare Presentation With Developmental Delay

Srilakshmi¹,

Waheed²,

Batool³

et al. 2023

Cureus

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Sjögren-Larsson syndrome (SLS) is a rare, inherited disorder passed down through families in an autosomal recessive pattern. Its main characteristics are spastic diplegic paralysis, congenital ichthyotic hyperkeratosis, and mild-to-moderate mental retardation. Lack of activity of microsomal fatty aldehyde dehydrogenase (FALDH) or its complete absence is the primary cause of this syndrome, leading to the buildup of fatty aldehydes and fatty alcohols in the body, particularly in the skin. In order to provide the best care for patients, educating them about the management of dry skin and offering genetic counseling are essential. We hereby present a case of an eight-year-old patient with spastic diplegia, congenital ichthyosis, and intellectual disability diagnosed with SLS.

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Section: Discussionmentioning

confidence: 99%