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Cystic Leucoencephalopathy in NDUFV1 Mutation
Yamini Wadhwa1, Seema Rohilla1, Jaya Shankar Kaushik2
1Department of Radiodiagnosis, Pt B D Sharma Post Graduate Institute of Medical Sciences, Rohtak, Haryana, India.
Indian Journal of Pediatrics
|June 28, 2018
Summary
Complex I deficiency, a common mitochondrial defect, can cause neurological issues. This case highlights NDUFV1 gene mutations leading to leucoencephalopathy in a child with motor regression.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Complex I deficiency is a frequent cause of mitochondrial respiratory chain defects, stemming from mutations in nuclear or mitochondrial DNA.
- Mutations in the NDUFV1 gene, encoding a key subunit of Respiratory Complex 1, are associated with neurological disorders like Leigh syndrome and leucoencephalopathy.
Observation:
- A one-year-old boy experienced motor milestone regression after a minor fall.
- Neuroimaging showed diffuse, cystic leucoencephalopathy affecting the corpus callosum and periventricular white matter, mimicking vanishing white matter disease.
Findings:
- Next-generation sequencing identified compound heterozygous pathogenic variants in the NDUFV1 gene: a missense variant in exon 8 (c.1156C>C/T (p.Arg386Cys)) and a potential novel splice site variation in intron 2 (c.155+1G>G/A).
Implications:
- NDUFV1-related leucoencephalopathy should be considered in pediatric cases of sudden motor regression with diffuse cystic leukodystrophy on MRI.
- This case underscores the importance of genetic testing in diagnosing rare mitochondrial disorders presenting with complex neurological symptoms.
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