Late-Onset Leigh Syndrome due to NDUFV1 Mutation in a 10-Year-Old Boy Initially Presenting with Ataxia

Faruk Incecik; Ozlem M Herguner; Seyda Besen; Sevcan T Bozdoğan; Neslihan O Mungan

doi:10.4103/jpn.JPN_138_17

Late-Onset Leigh Syndrome due to NDUFV1 Mutation in a 10-Year-Old Boy Initially Presenting with Ataxia

J Pediatr Neurosci. 2018 Apr-Jun;13(2):205-207. doi: 10.4103/jpn.JPN_138_17.

Authors

Faruk Incecik¹, Ozlem M Herguner¹, Seyda Besen¹, Sevcan T Bozdoğan², Neslihan O Mungan³

Affiliations

¹ Division of Child Neurology, Department of Pediatrics, Cukurova University, Adana, Turkey.
² Department of Medical Genetics, Cukurova University, Adana, Turkey.
³ Division of Pediatric Metabolism, Faculty of Medicine, Cukurova University, Adana, Turkey.

Abstract

Leigh syndrome (LS) is a progressive neurodegenerative disease caused by either mitochondrial or nuclear DNA mutations resulting in dysfunctional mitochondrial energy metabolism. The onset of clinical features is typically between 3 and 12 months of age; however, a later onset has been described in a few patients. Complex I deficiency is reported to be the most common cause of mitochondrial disorders. We described a patient with a late-onset LS, who presented with gait ataxia, caused by complex I deficiency (NDUFV1 gene).

Keywords: Complex I deficiency; NDUFV1 gene; late-onset Leigh syndrome.

Publication types

Case Reports