Related Experiment Videos
Stroke-like encephalopathy in an infant with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
M Huemer1, A Muehl, K Wandl-Vergesslich
1Department of Paediatrics, University of Vienna, Austria.
Insights
3-hydroxy-3-methyl-glutaryl-coenzyme A (HMG-CoA) lyase deficiency can cause stroke-like encephalopathy in children. This condition, occurring after metabolic decompensation, highlights the need for monitoring toxic metabolite accumulation.
Area of Science:
- Biochemistry
- Neurology
- Pediatrics
Background:
- 3-hydroxy-3-methyl-glutaryl-coenzyme A (HMG-CoA) lyase deficiency is an inherited metabolic disorder.
- Acute metabolic decompensation can trigger severe neurological complications.
Observation:
- A 2.5-year-old boy with HMG-CoA lyase deficiency developed stroke-like encephalopathy.
- The encephalopathy presented with seizures, coma, and brain edema, predominantly in the right cerebral artery territories.
- Neurological deficits included hemiparesis, facial palsy, and aphasia, suggesting diffuse brain involvement.
Findings:
- Stroke-like encephalopathy occurred days after metabolic decompensation in this patient.
- Brain imaging revealed edema, demarcation, and atrophy in specific cerebral regions.
- Residual deficits indicated significant bilateral brain affection.
Implications:
- Stroke-like encephalopathy in HMG-CoA lyase deficiency suggests ongoing intracerebral metabolic derangement.
- Monitoring toxic metabolite accumulation via magnetic resonance spectroscopy may aid understanding.
- Assessing cerebral hemodynamics could identify patients at risk for these neurological events.
Unlabelled:
A 2.5-year-old boy presented with acute metabolic decompensation in whom 3-hydroxy-3-methyl-glutaryl-coenzyme A (HMG-CoA) lyase deficiency was diagnosed. Four days after metabolic decompensation, a stroke-like encephalopathy with tonic clonic convulsion of the left arm and leg and coma developed. Brain oedema and subsequent demarcation and atrophy were observed mainly within the supply areas of the right anterior and middle cerebral artery and to a lesser extent in various sites within the right hemisphere. Residual neurological deficits included spastic paresis of the left arm and leg. and left supranuclear facial palsy and aphasia, indicating bilateral diffuse brain affection.
Conclusion:
In the presented patient with HMG-CoA lyase deficiency, stroke-like encephalopathy occurred days after metabolic decompensation indicating ongoing (intracerebral) metabolic derangement. Monitoring of the intracerebral accumulation of toxic metabolites by magnetic resonance spectroscopy and of cerebral haemodynamics might be useful for a better understanding of the pathogenetic mechanisms of stroke-like encephalopathy and to identify patients at risk.