GTR Home > Conditions/Phenotypes > Leigh syndrome, French Canadian type

Summary

The French Canadian type of Leigh syndrome is an autosomal recessive severe neurologic disorder with onset in infancy. Features include delayed psychomotor development, mental retardation, mild dysmorphic facial features, hypotonia, ataxia, and the development of lesions in the brainstem and basal ganglia. Affected individuals tend to have episodic metabolic and/or neurologic crises in early childhood, which often lead to early death (summary by Debray et al., 2011). For a phenotypic description and a discussion of genetic heterogeneity of Leigh syndrome, see 256000. [from OMIM]

Available tests

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Associated genes

Clinical features

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  • Hirsutism
  • Increased CSF lactate
  • Increased serum lactate
  • Prominent forehead
  • Low anterior hairline
  • CNS demyelination
  • Midface retrusion
  • Anteverted nares
  • Lactic acidosis
  • Malar flattening
  • Seizure
  • Strabismus
  • Tremor
  • Failure to thrive
  • Hypertelorism
  • Wide nasal bridge
  • Delayed speech and language development
  • Ataxia
  • Muscular hypotonia
  • Global developmental delay
  • Microvesicular hepatic steatosis
  • Hypoglycemia
  • Gliosis
  • Highly arched eyebrow
  • Tachypnea
  • Hyperglycemia
  • Increased hepatocellular lipid droplets
  • Peripheral demyelination
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