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Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties
R Anderson1, S Rust2, J Ashworth3
1Willink Metabolic Unit, Manchester Academic Health Sciences Centre, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
JIMD Reports
|August 12, 2018
Summary
This study reports a fifth case of lathosterolosis, a rare cholesterol synthesis defect, in a child with mild learning difficulties and cataracts. Early diagnosis of this rare genetic disorder is crucial for potential interventions.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Lathosterolosis is an extremely rare inherited metabolic disorder impacting cholesterol biosynthesis.
- Previous reports are limited, with only four cases documented, highlighting the rarity of this condition.
Purpose of the Study:
- To describe a fifth patient with lathosterolosis, focusing on a milder clinical presentation.
- To detail the genetic and biochemical findings in this unique case.
- To emphasize the importance of considering lathosterolosis in the differential diagnosis of unexplained developmental delay and cataracts.
Main Methods:
- Clinical evaluation of a pediatric patient presenting with developmental delay and cataracts.
- Genetic analysis using a gene panel for inherited cataracts, identifying compound heterozygous SC5D mutations.
- Biochemical analysis of plasma sterol levels to confirm elevated lathosterol concentrations.
Main Results:
- The patient exhibited a mild phenotype including bilateral posterior cataracts, learning difficulties, and subtle dysmorphic features.
- Compound heterozygous mutations in the SC5D gene (c.479C>G p.(Pro160Arg) and c.630C>A p.(Asp210Glu)) were identified.
- Markedly elevated plasma lathosterol levels (219.8 μmol/L) confirmed the diagnosis of lathosterolosis.
Conclusions:
- Milder forms of lathosterolosis can manifest with learning difficulties, cataracts, and subtle dysmorphism, potentially leading to diagnostic delays.
- Diagnosis requires a high index of suspicion, necessitating plasma sterol analysis or targeted gene sequencing.
- The identified SC5D mutation suggests residual enzyme activity, consistent with a milder phenotype.
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