Bilateral horizontal gaze palsy in an 8-year-old girl: A rare case with <i>NDUFS4</i> gene mutation.

Vafaee-Shahi, Mohammad; Ghasemi, Saeide; Beiraghi Toosi, Mehran; Ashrafi, Mahmoud Reza; Badv, Reza Shervin; Tavasoli, Ali Reza; Tahernia, Leila

Bilateral horizontal gaze palsy in an 8-year-old girl: A rare case with NDUFS4 gene mutation.

Vafaee-Shahi, Mohammad; Ghasemi, Saeide; Beiraghi Toosi, Mehran; Ashrafi, Mahmoud Reza; Badv, Reza Shervin; Tavasoli, Ali Reza; Tahernia, Leila.

Afiliação

Vafaee-Shahi M; Pediatric Neurology Department Pediatric Growth and Development Research Center Iran University of Medical Sciences Tehran Iran.
Ghasemi S; Rasool Akram Hospital Iran University of Medical Sciences Tehran Iran.
Beiraghi Toosi M; Pediatric Neurology Department Pediatric Ward Faculty of Medicine Mashhad University of Medical Sciences Mashhad Iran.
Ashrafi MR; Myelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence Tehran University of Medical Sciences Tehran Iran.
Badv RS; Myelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence Tehran University of Medical Sciences Tehran Iran.
Tavasoli AR; Myelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence Tehran University of Medical Sciences Tehran Iran.
Tahernia L; Pediatric Intensive care department, Children's Medical Center, Pediatrics Center of Excellence Tehran University of Medical Sciences Tehran Iran.

Clin Case Rep ; 9(9): e04748, 2021 Sep.

Article em En | MEDLINE | ID: mdl-34484776

ABSTRACT

ABSTRACT

We report a patient with complex clinical presentation including multiple neurological symptoms and eye involvement. Upon genetic investigation, the patient was found to carry a novel homozygous mutation in the NDUFS4 gene, thus adding to the heterogeneity of Leigh syndrome clinical presentation.

Palavras-chave

Leigh syndrome; NDUFS4 gene; gaze palsy; lactate; mitochondria

Texto completo

Adicionar na Minha BVS

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Clin Case Rep Ano de publicação: 2021 Tipo de documento: Article