Introduction: Usually genetic in origin and autosomal recessive in nature, mitochondrial complex 1 deficiency nuclear type 5 (MC1DN5) largely affects the mitochondria, the cell's energy-producing organelles and specifically targets the brain and nervous system. Thus the aim of this study is to explore the clinical, neuroimaging and genetic framework of the hereditary illnesses MC1DN5, produced by mutations in the NADH-Ubiquinone Oxidoreductase Fe-S protein 1 (NDUFS1) gene. Method: This study was conducted in a tertiary care facility's Paediatric Neurology section. The clinical and demographic data of pediatric patients with MC1DN5 was investigated. The genetic variation was identified with next generation sequencing. The neuroradiologist evaluated the brain's magnetic resonance imaging (MRI) scans to log the neuroimaging findings. Published literature was further reviewed on variants reported in NDUFS1 gene. Results: The study reports 6 pediatric patients with p.Ser715/701Asn variant in NDUFS1 gene having infantile onset. Neuro-regression (33.33%), regression of motor milestones (50%), global developmental delay (33.33%), fever (66.66%), seizures (83.33%), spasticity (100%), Hypertonia (33.33%), hypotonia (16.66%), dystonia (33.33%), vomiting (16.66%), abnormal startle (33.33%), and microcephaly (33.33%) were all part of the clinical picture. The MRI alterations were noticeable as T2/FLAIR hyperintensities in periventricular white matter and cystic changes with corpus callosum involvement. Among reviewed variants p.Ser701Asn; p.Asp252Gly; p.V228A; p.Arg408Cys; p.Q522K were commonly reported cause of MCIDN5. Conclusion: Considering varying clinical and neuroimaging findings in children, a genetic validation is crucial. Future research on diagnostic and therapeutic in MCID should focus on the highly frequent p.Ser701/715Asn variation in NDUFS1 gene.

Sanjhi Paliwal
Post Graduate Institute of Medical Education & Research
India

Arushi Gahlot Saini
Post Graduate Institute of Medical Education & Research
India