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A SURF1 gene mutation presenting as isolated leukodystrophy.

S Rahman1, R M Brown, W K Chong

  • 1Department of Metabolic Medicine, Great Ormond Street Hospital, London, UK. S.Rahman@ich.ucl.ac.uk

Annals of Neurology
|June 21, 2001
PubMed
Summary
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Mitochondrial disease, specifically leukodystrophy with systemic cytochrome oxidase deficiency due to SURF1 gene mutations, is identified in a young girl. This finding expands the known spectrum of SURF1-related disorders beyond Leigh syndrome.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Mitochondrial respiratory chain defects are implicated in various neurological disorders, including leukodystrophy.
  • Leigh syndrome is a well-known condition associated with cytochrome oxidase deficiency, often linked to the SURF1 gene.

Observation:

  • A 2-year-old girl presented with failure to thrive, global neurodevelopmental regression, and lactic acidosis.
  • This patient exhibited systemic cytochrome oxidase deficiency, a hallmark of mitochondrial dysfunction.

Findings:

  • Genetic analysis revealed a loss-of-function mutation in the SURF1 gene as the cause of the observed symptoms.
  • This represents the first reported case of leukodystrophy associated with a SURF1 gene mutation and systemic cytochrome oxidase deficiency.

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Implications:

  • The phenotype associated with SURF1 protein deficiency should be broadened to encompass leukodystrophy, not solely Leigh syndrome.
  • This case highlights the importance of considering mitochondrial disorders in the differential diagnosis of pediatric leukodystrophies.