Cystic Leucoencephalopathy in NDUFV1 Mutation
Complex I deficiency is one of the most common mitochondrial respiratory chain defect. This deficiency of oxidative phosphorylation results from mutation in nuclear and mitochondrial DNA. Mutations in NDUFV1 (Flavin binding subunit of Respiratory complex 1) results in neurological manifestations including Leigh syndrome and leucoencephalopathy. The authors report a one-year-old boy with history of regression of motor milestones following a trivial fall from the bed. His magnetic resonance imaging revealed diffuse, cystic leucoencephalopathy involving corpus callosum and periventricular white matter. Clinical features and radiological findings may resemble those of vanishing white matter disease. Next generation sequencing revealed likely compound heterozygous missense pathogenic variant in exon 8 of NDUFV1 gene [c.1156C > C/T (p.Arg386Cys)] and possibly novel splice site variation in intron 2 of NDUFV1 gene (c.155 + 1G > G/A). NDUFV1 related leucoencephalopathy must be considered among those presenting with sudden onset of motor regression with neuroimaging correlate of diffuse cystic leucodystrophy.
KeywordsMitochondrial complex I deficiency NDUFV1 mutation Mitochondrial diseases White matter
The authors acknowledge the help of Dr. Divya Gupta, for her genetic input in the manuscript.
JSK: Patient management. YW, SR, JSK: Drafting the manuscript and review of literature; JSK, SR: Critical review of the manuscript for intellectual content and final approval of the version to be published; SR: Critical radiological input. JSK: Clinician-in-charge, critical review of the manuscript for intellectual content, final approval of the version to be published and will act as guarantor for the paper.
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