Abstract
Background Short-chain enoyl-CoA hydratase (ECHS1) deficiency is a rare metabolic disorder. Concerned patients present with Leigh syndrome symptoms or a Leigh-like syndrome. Only 58 patients are known worldwide. The ECHS1 is a key component in β-oxidation and valine catabolic pathways.
Case Here we report a 6-month-old Lebanese boy born to consanguineous parents. He presented an increased muscle tone, hyperexcitability, feeding problems, horizontal nystagmus, and developmental delay. Magnetic resonance imaging of the brain revealed frontal brain atrophy, corpus callosum atrophy, and T2 hyperintensity in pallidum, internal capsule, pons, and thalamus. In the postsedation phase, the patient displayed a sudden generalized seizure with transition to status epilepticus. Therefore, we conducted metabolic examinations, which showed elevated levels of 2-methyl-2,3-DiOH-butyrate and 3-methylglutaconate in urine. Single exome sequencing revealed the homozygous mutation c.476A > G in the ECHS1 gene.
Conclusion This case report describes the clinical symptoms and the diagnostics of ECHS1 deficiency. It shows the importance of further metabolic and genetic testing of patients with motoric conspicuities and developmental delay. It is important to be cautious with propofol sedation of patients who present an unknown neurological disorder, when metabolic disturbance or especially mitochondriopathy is suspected.
Keywords
ECHS1 - encephalopathy - neurodegeneration - case report
