Akademik Veri Yönetim Sistemi
15th Congress of the European Paediatric Neurology Society (EPNS), Praha, Çek Cumhuriyeti, 20 - 24 Haziran 2023, ss.580
Objectives: Mitochondrial energy metabolism disorders are a clinically and genetically heterogeneous group of
diseases that result from dysfunction of oxidative phosphorylation caused by mutations in mitochondrial and/or nuclear DNA.
Mutations in the NDUFV1 gene, which encodes a structural subunit of Complex I involved in mitochondrial oxidative
phosphorylation, are disorders clinically associated with early-onset psychomotor decline, hypotonia, spasticity, dystonia, and
epilepsy. We aimed to present a case who presented with mild developmental delay and was found to a homozygous mutation of
NDUFV1 gene.
Case Presentation: A 32-month-old girl was admitted to our pediatric neurology outpatient clinic with mild motor developmental
delay. She was born after uneventful pregnancy and delivery, with a second-degree consanguineous marriage of her parents. She
had a history of birth with mild intrauterine growth retardation. Physical examination at admission was normal except for
strabismus and mild hypotonia. Laboratory tests did not reveal any pathological findings for neurometabolic disorders. Brain MRI
showed diffuse and cystic leukoencephalopathy. The whole exome sequencing analysis revealed a pathogenic homozygous
mutation of NDUFV1 gene.
Conclusion: Mitochondrial energy metabolism disorders are a heterogeneous group of diseases with a wide clinical spectrum. The
mutations of NDUFV1 should be kept in mind in patients who had mild developmental delay with diffuse and cystic
leukoencephalopathy on MRI, even if the symptoms were mild.