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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.

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|August 12, 2018
PubMed
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.

Keywords:
CataractsCholesterol synthesisDysmorphismLathosterolosisLearning difficultiesSC5D mutations

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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.