Severe early onset ethylmalonic encephalopathy with West syndrome

Metab Brain Dis. 2015 Dec;30(6):1537-45. doi: 10.1007/s11011-015-9707-8. Epub 2015 Jul 21.


Ethylmalonic encephalopathy (EE) is a rare autosomal recessive disorder characterized by early onset encephalopathy, chronic diarrhoea, petechiae, orthostatic acrocyanosis and defective cytochrome c oxidase (COX) in muscle and brain. High levels of lactic, ethylmalonic and methylsuccinic acids are detected in body fluids. EE is caused by mutations in ETHE1 gene, a mitochondrial sulfur dioxygenase. Neurologic signs and symptoms include progressively delayed development, hypotonia, seizures, and abnormal movements. We report on the clinical, electroencephalographic and MRI findings of a baby with a severe early onset encephalopathy associated with novel ETHE1 gene mutation. This is the first case described in literature with an early pure epileptic onset, presenting with West syndrome.

Keywords: ETHE1; Ethylmalonic encephalopathy; West syndrome.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Sequence
  • Biomarkers / blood
  • Brain / pathology
  • Brain Diseases, Metabolic, Inborn / complications
  • Brain Diseases, Metabolic, Inborn / genetics*
  • Brain Diseases, Metabolic, Inborn / pathology
  • Electroencephalography
  • Female
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Mitochondrial Proteins / genetics
  • Molecular Sequence Data
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Mutation / genetics
  • Nucleocytoplasmic Transport Proteins / genetics
  • Purpura / complications
  • Purpura / genetics*
  • Purpura / pathology
  • Spasms, Infantile / complications
  • Spasms, Infantile / genetics*
  • Spasms, Infantile / pathology


  • Biomarkers
  • ETHE1 protein, human
  • Mitochondrial Proteins
  • Nucleocytoplasmic Transport Proteins

Supplementary concepts

  • Ethylmalonic encephalopathy