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Updated: Mar 3, 2026

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New Neuroimaging Findings in Enoyl-CoA Hydratase Short-Chain 1 (ECHS1) Deficiency

Hiroko Tada1, Keiko Ichimoto2, Kei Murayama3

  • 1Department of Pediatrics, Chibaken Saiseikai Narashino Hospital, Narashino, JPN.

Cureus
|March 2, 2026
PubMed

Insights

Enoyl-CoA hydratase short-chain 1 (ECHS1) deficiency can cause Leigh syndrome. This case highlights potential specific cerebellar involvement in ECHS1 variants, suggesting a need for focused neuroimaging.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Enoyl-CoA hydratase short-chain 1 (ECHS1) variants are a frequent cause of Leigh syndrome.
  • Leigh syndrome is a severe multisystem disorder affecting the central nervous system.

Keywords:
arterial spin labelingcerebellumechs1leigh syndromemagnetic resonance spectroscopyvaline

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