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

2021 ◽  
Vol 9 (9) ◽  
Author(s):  
Mohammad Vafaee‐Shahi ◽  
Saeide Ghasemi ◽  
Mehran Beiraghi Toosi ◽  
Mahmoud Reza Ashrafi ◽  
Reza Shervin Badv ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Rare Case ◽  
Horizontal Gaze ◽  
Gaze Palsy

scholarly journals Bilateral horizontal gaze palsy in an 8-year-old girl; rare case with NDUFS4 gene mutation: a case report and literature review

2020 ◽  
Author(s):  
Mohammad Vafaee Shahi ◽  
Saeide Ghasemi ◽  
Mehran Beiraghi Toosi ◽  
Mahmoud Reza Ashrafi ◽  
Reza Shervin Badv ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Gene Mutation ◽  
Rare Case ◽  
Horizontal Gaze ◽  
Gaze Palsy

scholarly journals Bilateral horizontal gaze palsy in an 8-year-old girl; a rare case with NDUFS4 gene mutation: a case report and literature review

2019 ◽  
Author(s):  
Mohammad Vafaee-Shahi ◽  
Saeide Ghasemi ◽  
Mehran Beiraghi Toosi ◽  
Mahmoud Reza Ashrafi ◽  
Reza Shervin Badv ◽  
...  
Keyword(s):  
Magnetic Resonance ◽  
Gene Mutation ◽  
Genetic Test ◽  
Neurodegenerative Disorder ◽  
Brain Mri ◽  
Clinical Signs ◽  
Leigh Syndrome ◽  
Resonance Spectroscopy ◽  
Horizontal Gaze ◽  
Gaze Palsy

Abstract Background: Leigh syndrome (LS) is a rare and inherited disease which is associated with progressive neurological disorders. The molecular underlying mechanism in LS is defined with some defects in mitochondrial respiratory chain enzymes. Case presentation: Here, an 8-year-old girl is reported with bilateral horizontal gaze palsy, ataxia and drowsiness. She developed unsteady gait, drowsiness, progressive ataxia and intention tremor during her admission period. The laboratory tests were reported within normal values including biochemical, hematological, immunological, infectious and inflammatory markers and blood and cerebrospinal fluid (CSF) lactate. Brain magnetic resonance imaging (MRI) demonstrated dorsal midbrain, bilateral putamen nuclei and cerebellar dentate nucleus involvement. Ocular examination revealed retinal atrophy and pale disk in both sides. These symptoms were in favor of a neurodegenerative disorder. Magnetic resonance spectroscopy (MRS) revealed an elevated lactate peak in involved areas which suggested a mitochondrial disease. Finally, the molecular genetic test reported NDUFS4 gene mutation which confirmed the presence of Leigh syndrome. She responded significantly to mitochondrial treatment cocktail and clinical signs and symptoms improved gradually. NDFUS4 gene encodes a subunit of mitochondrial complex I (NADH: ubiquinone oxidoreductase) that removes electrons from NADH and transfers them to the electron acceptor ubiquinone. Conclusion: Our findings indicated that various symptoms and clinical features can be found in Leigh syndrome which could be probably due to different mutations in mitochondrial genes. Therefore, appropriate clinical and laboratory settings along with brain MRI, MRS and genetic test analysis would be necessary for the early diagnosis.

Horizontal Gaze Palsy and Rapidly Progressive Scoliosis: Typical Findings in ROBO3 Mutations

2014 ◽  
Vol 45 (S 01) ◽  
Author(s):  
J. Koch ◽  
F. Landauer ◽  
T. Keindl ◽  
M. Sloman
Keyword(s):  
Progressive Scoliosis ◽  
Horizontal Gaze ◽  
Gaze Palsy

scholarly journals Pontine cavernous hemangioma presenting with horizontal gaze palsy

2005 ◽  
Vol 72 (1) ◽  
pp. 86-86 ◽  
Author(s):  
Vimla Menon ◽  
Rohit Saxena ◽  
Zia Chaudhary
Keyword(s):  
Cavernous Hemangioma ◽  
Horizontal Gaze ◽  
Gaze Palsy

Congenital Bilateral Horizontal Gaze Palsy in a Brother and Sister

1980 ◽  
Vol 17 (4) ◽  
pp. 224-226
Author(s):  
Martin Ehrenberg ◽  
Walter M Jay ◽  
Linas A Sidrys ◽  
Karl J Fritz
Keyword(s):  
Horizontal Gaze ◽  
Gaze Palsy

Familial Congenital Horizontal Gaze Palsy

1999 ◽  
Vol 36 (1) ◽  
pp. 47-49
Author(s):  
Panagiota Stavrou ◽  
Harry E Willshaw
Keyword(s):  
Horizontal Gaze ◽  
Gaze Palsy

scholarly journals Congenital horizontal gaze palsy and kyphoscoliosis.

1980 ◽  
Vol 17 (4) ◽  
pp. 324-324 ◽  
Author(s):  
E K Dretakis
Keyword(s):  
Horizontal Gaze ◽  
Gaze Palsy

scholarly journals Synergistic convergence and split pons in horizontal gaze palsy and progressive scoliosis in two sisters

2011 ◽  
Vol 59 (2) ◽  
pp. 162 ◽  
Author(s):  
NitinR Jain ◽  
Jitendra Jethani ◽  
Kalpana Narendran ◽  
L Kanth
Keyword(s):  
Progressive Scoliosis ◽  
Horizontal Gaze ◽  
Gaze Palsy
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