Progressive myoclonic epilepsy and horizontal gaze palsy: a rare aetiology
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DOI: 10.1136/bcr-2017-222304
Abstract: Gaucher’s disease is a rare autosomal recessive, potentially fatal disorder but most common type among lysosomal storage disorders. The disease’s incidence is around 1/40 000 to 1/60 000 births in the general population. A 32-year-old… read more here.
Keywords: progressive myoclonic; palsy rare; epilepsy horizontal; myoclonic epilepsy ... See more keywords
Atypical presentation of juvenile multiple sclerosis in a patient with COVID-19
Sign Up to like & getrecommendations! Published in 2022 at "European Journal of Ophthalmology"
DOI: 10.1177/11206721221113910
Abstract: Purpose: To report our experience with a case of a very atypical clinical onset of multiple sclerosis in a young boy during a COVID-19 infection. Case report: A 16-year-old boy was referred to our ophthalmology… read more here.
Keywords: atypical presentation; ophthalmology; gaze palsy; horizontal gaze ... See more keywords
Complete horizontal gaze palsy due to bilateral paramedian pontine reticular formation involvement as a presentation of multiple sclerosis: a case report
Sign Up to like & getrecommendations! Published in 2019 at "BMC Neurology"
DOI: 10.1186/s12883-019-1494-0
Abstract: BackgroundDemyelinating central nervous system diseases include several disorders that multiple sclerosis (MS) is identified as the most common among them. Ocular movement disturbances are a typical presentation in MS patients where lesions affect the complex… read more here.
Keywords: sclerosis; multiple sclerosis; gaze palsy; horizontal gaze ... See more keywords
Teaching Video NeuroImages: Horizontal gaze palsy with progressive scoliosis
Sign Up to like & getrecommendations! Published in 2019 at "Neurology"
DOI: 10.1212/wnl.0000000000006962
Abstract: A 10-year-old girl presented with abnormal eye movement since birth. She was born from consanguineous parents. Ocular ductions showed complete horizontal gaze palsy, partial limitation of upgaze, and synergistic convergence (figure, A; video 1). Her… read more here.
Keywords: video; scoliosis; gaze palsy; palsy progressive ... See more keywords
Teaching NeuroImage: ROBO3 Mutation Causing Horizontal Gaze Palsy and Brainstem Malformation
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DOI: 10.1212/wnl.0000000000206821
Abstract: A 10-month-old boy presented with motor developmental delay, torticollis, bilateral abduction restriction (incomplete horizontal gaze palsy), and left lower motor neuron facial palsy. His brain MRI demonstrated brainstem malformations, including absent facial colliculi (Figure, A),… read more here.
Keywords: malformation; gaze palsy; palsy; horizontal gaze ... See more keywords
Isolated Horizontal Gaze Palsy: Observations and Explanations
Sign Up to like & getrecommendations! Published in 2017 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2017.00611
Abstract: We present three cases that we suggest require a novel diagnosis and a reconsideration of current understandings of pontine anatomy. In this case series, we highlight a series of patients with monophasic, fully recovering inflammatory… read more here.
Keywords: isolated horizontal; anatomy; palsy observations; gaze ... See more keywords
Clinical features and genotypes of six patients from four families with horizontal gaze palsy with progressive scoliosis
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2022.949565
Abstract: Background Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare disorder mainly involved in ocular movement and spinal development. It is caused by a roundabout guidance receptor 3 (ROBO3) gene mutation. This study aimed… read more here.
Keywords: six patients; scoliosis; gaze palsy; progressive scoliosis ... See more keywords
Association between the Horizontal Gaze Ability and Physical Characteristics of Patients with Dropped Head Syndrome
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DOI: 10.3390/medicina58040465
Abstract: Background and Objectives: Patients with dropped head syndrome exhibit weakness of the cervical paraspinal muscles. However, the relationship between horizontal gaze disorder and physical function remains unclear. This study aimed to examine and clarify this… read more here.
Keywords: muscle strength; dropped head; ability; head syndrome ... See more keywords
Association between the Phase Angle and the Severity of Horizontal Gaze Disorder in Patients with Idiopathic Dropped Head Syndrome: A Cross-Sectional Study
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DOI: 10.3390/medicina59030526
Abstract: Background and Objectives: The phase angle, calculated by bioelectrical impedance analysis, can help elucidate the pathology of patients with idiopathic dropped head syndrome (IDHS) and explain the motor dysfunction associated with the horizontal gaze disorder.… read more here.
Keywords: phase angle; gaze disorder; horizontal gaze; phase ... See more keywords