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Short-chain enoyl-CoA hydratase, encoded by ECHS1, plays a major role in the valine catabolic pathway and mitochondrial fatty acid β-oxidation. Deficiency of this enzyme causes Leigh syndrome. Herein, we report a case of ECHS1 -related Leigh syndrome with a prominent ketone body spectrum on magnetic resonance spectroscopy during acute exacerbation. A 6-month-old boy with mild motor developmental delay presented with disturbances of consciousness and hypercapnia without prior infection or feeding failure. Upon admission, investigations revealed prominent ketosis and elevated 2,3-dihydroxy-2-methylbutyric acid excretion. Brain magnetic resonance imaging revealed symmetrical T2 prolongation with restricted diffusion in the basal ganglia. Magnetic resonance spectroscopy showed a prominent ketone body spectrum in the cerebral white matter, and prominent ketone bodies, elevated lactate and markedly decreased N-acetylaspartate levels in the basal ganglia. Genetic analysis identified compound heterozygous variants of ECHS1 . Short-chain enoyl-CoA hydratase deficiency is a disease for which a valine-restricted diet is reported to be beneficial, and early diagnosis is desirable. Severe ketosis and the ketone body magnetic resonance spectroscopy spectrum during acute exacerbation may aid in the diagnosis of this disease., (© 2024 The Authors. Published by Elsevier Inc. on behalf of University of Washington.)

Vitamin deficiency disorders display a wide variety of neurologic signs and symptoms, the pathogenesis of which is not clearly understood. Metabolic encephalopathies (hepatic, hypoglycemic, and uremic) have to be considered in the differential diagnosis of patients with cognitive impairment, motor disturbances, psychiatric symptoms, seizures, and neuropathies. Calcifications (vascular wall and parenchymal) occur in the normal aging brain and in neurodegeneration; some associated genes are already described., (Copyright © 2017 Elsevier B.V. All rights reserved.)