Novel Homozygous Variant in TTC19 Causing Mitochondrial Complex III Deficiency with Recurrent Stroke-Like Episodes: Expanding the Phenotype

Semin Pediatr Neurol. 2018 Jul:26:16-20. doi: 10.1016/j.spen.2018.04.003.

Abstract

A 7-year-old boy with family history of consanguinity presented with developmental delay and recurrent hemiplegia involving both sides of the body, with variable facial and ocular involvement. Brain MRI showed bilateral striatal necrosis with cystic degeneration and lactate peaks on spectroscopy. Biochemical testing demonstrated mildly elevated lactate and pyruvate. Whole-exome sequencing revealed a novel homozygous pathogenic frameshift mutation in gene TTC19, diagnostic of mitochondrial complex III deficiency.

Publication types

  • Case Reports

MeSH terms

  • Brain / diagnostic imaging
  • Brain / metabolism
  • Child
  • Electron Transport Complex III / deficiency*
  • Electron Transport Complex III / genetics
  • Homozygote*
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Mitochondrial Diseases / diagnostic imaging
  • Mitochondrial Diseases / genetics*
  • Mitochondrial Diseases / physiopathology*
  • Mitochondrial Proteins / genetics*
  • Phenotype

Substances

  • Membrane Proteins
  • Mitochondrial Proteins
  • TTC19 protein, human
  • Electron Transport Complex III

Supplementary concepts

  • Mitochondrial Complex III Deficiency