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

被引：0

作者：

Vafaee-Shahi, Mohammad ^{[1
]}

Ghasemi, Saeide ^{[2
]}

Beiraghi Toosi, Mehran ^{[3
]}

Ashrafi, Mahmoud Reza ^{[4
]}

Badv, Reza Shervin ^{[4
]}

Tavasoli, Ali Reza ^{[4
]}

Tahernia, Leila ^{[5
]}

机构：

[1] Iran Univ Med Sci, Pediat Growth & Dev Res Ctr, Pediat Neurol Dept, Tehran, Iran

[2] Iran Univ Med Sci, Rasool Akram Hosp, Tehran, Iran

[3] Mashhad Univ Med Sci, Fac Med, Pediat Ward, Pediat Neurol Dept, Mashhad, Razavi Khorasan, Iran

[4] Univ Tehran Med Sci, Pediat Ctr Excellence, Childrens Med Ctr, Myelin Disorders Clin,Pediat Neurol Div, Tehran, Iran

[5] Univ Tehran Med Sci, Pediat Ctr Excellence, Childrens Med Ctr, Pediatr Intens Care Dept, Tehran, Iran

来源：

CLINICAL CASE REPORTS | 2021年 / 9卷 / 09期

关键词：

gaze palsy; lactate; Leigh syndrome; mitochondria; NDUFS4; gene; LEIGH-SYNDROME;

D O I：

10.1002/ccr3.4748

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页数：7

共 15 条

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