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Mitochondrial Complex I Deficiency Masquerading as Stroke-Like Episode Clinically and as Alexander Disease
Vykuntaraju K Gowda1, Arun Y Bylappa2, Uddhav Kinhal2
1Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru Karnataka, India.
Insights
Mitochondrial disorders can affect the brain and heart, presenting with stroke-like symptoms. This case highlights a rare NDUFS8 gene variant causing complex I deficiency in a child with neurological regression.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Mitochondrial disorders are metabolic diseases impacting high-energy organs.
- They present with diverse clinical features, often affecting the brain, eyes, and heart.
Observation:
- A 17-month-old girl experienced right hemiparesis and developmental regression post-chickenpox.
- Brain MRI revealed white matter changes, echocardiography showed cardiomyopathy, and muscle biopsy indicated Complex I deficiency.
Findings:
- Whole exome sequencing identified a homozygous missense variant (c.304C>T) in the NDUFS8 gene.
- This genetic variant was confirmed in both parents via Sanger sequencing.
- The identified variant leads to mitochondrial Complex I deficiency.
Implications:
- Mitochondrial complex deficiency should be considered in pediatric stroke-like episodes with white matter abnormalities.
- This diagnosis aids in differentiating from genetic leukodystrophies like Alexander disease.
- Early genetic diagnosis and supportive treatment are crucial for managing mitochondrial disorders.
Abstract:
Mitochondrial disorders are a group of metabolic disorders with variable presentation and usually affect organs with high energy requirements like the brain, eye, and heart. Seventeen-month-old girl child presented with right hemiparesis and regression of milestones following chicken pox. Investigations showed elevated lactate, white matter signal changes in both periventricular and subcortical white matter with frontal predominance in the MRI of the brain, cardiomyopathy in the echocardiography, with complex I deficiency in respiratory enzyme assay in the muscle biopsy. A homozygous missense variant c.304C>T (p. Arg102Cys) in exon 5 of NDUFS8 gene (chr11:67800682C>T; NM_002496.4) was detected on whole exome sequencing with positive parental Sanger for the same gene. The child was started on a mitochondrial cocktail, ramipril, and frusemide. Mitochondrial complex deficiency should be considered in cases with stroke-like episodes, and predominant white matter involvement on imaging mimicking classical genetic leukodystrophy like Alexander disease.
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