ISSN - 0973-0958

Pediatric Oncall Journal View Article

Leigh’s Syndrome due to Unreported Heterozygous Variations in NDUFAF6 Gene
A Bajpai1, RK Gupta2, RK Thapar2.
1Department of Pediatrics, 7 Air Force Hospital, Kanpur, India,
2Department of Pediatrics, Command Hospital, Lucknow, India.
Leigh’s Syndrome also termed as sub-acute necrotizing encephalopathy is a rare, inherited progressive neurodegenerative disorder with characteristic pathological features usually presenting in infancy or early childhood. We report a 5 years old male child who had gradual regression of achieved milestones from 1 year of age. He developed myoclonic seizures at age of four years. On examination, he had rigidity. MRI showed abnormal signal pattern in bilateral putamen, caudate and superior colliculi. Targeted gene sequencing analysis showed complex I deficiency that was compound heterozygous for two variations in NDUFAF6 gene (612392.0001 and 612392.0002) which is known to cause Leigh’s Syndrome.

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