Paroxysmal tonic upgaze in normal children: A case series and a review of the literature

Salmina, Cinzia; Taddeo, Ilaria; Falesi, M; Weber, Peter; Bianchetti, Mario G.; Ramelli, Gian Paolo

doi:10.1016/j.ejpn.2012.04.004

Cited by 24 publications

(19 citation statements)

References 24 publications

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“…14 Our series and review of the literature suggests that the early presentation of an eye movement disorder is not limited to adults with SCA6, and may be an early manifestation of CACNA1A mutations in childhood. 3,4,[12][13][14] Children with PTU have been described as following a relatively benign course; 17,23 however, more recently a number of neurological disorders including cerebellar ataxia, borderline intellectual abilities, delayed early motor development, and residual ocular motor apraxia have all been associated with the condition. 11,12,18,24 All three children with PTU in our cohort were diagnosed with global developmental delay in conjunction with other more significant paroxysmal disorders.…”

Section: Discussion and Literature Reviewmentioning

confidence: 99%

Eye movement disorders are an early manifestation of CACNA1A mutations in children

Tantsis

Gill

Griffiths

et al. 2016

Develop Med Child Neuro

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Aim The alpha‐1 isoform of the calcium channel gene is expressed abundantly in neuronal tissue, especially within the cerebellum. Mutations in this gene may manifest with hemiplegic migraine, spinocerebellar ataxia type 6 (SCA6) and episodic ataxia type 2 (EA2) in adults. There are reports of children with CACAN1A mutations presenting with paroxysmal tonic upgaze, abnormal saccades and congenital nystagmus as well as severe forms of hemiplegic migraine. The aim of this study was to review the clinical presentation and subsequent course of all children with a CACNA1A mutation who presented to a tertiary children's hospital. Method We reviewed retrospectively nine children with a proven CACNA1A mutation who presented to the Children's Hospital at Westmead between 2005–2015. The initial and subsequent clinical presentation, radiological features and molecular genetic profile of each child was reviewed. Results Nine children presented to out institute over a 10 year period; six were female and three male. The median age of presentation was 1.2 years. Eye movement disorders were the presenting feature in eight children. Three of these children later presented with severe hemiplegic migraine episodes often requiring ICU care. Affected children also had developmental delay and developed classical hemiplegic migraine, episodic ataxia and seizures. Calcium channel blockers were used with some efficacy in preventing severe HM episodes. Interpretation Eye movement disorders are an early manifestation of CACNA1A mutations in children. Improved recognition of the CACNA1A phenotype in childhood is important for early diagnosis, counselling and appropriate emergency management. There is some early evidence that calcium channel blockers may be an effective prophylactic agent for the severe hemiplegic migraine episodes.

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Section: Discussion and Literature Reviewmentioning

confidence: 99%

Eye movement disorders are an early manifestation of CACNA1A mutations in children

Tantsis

Gill

Griffiths

et al. 2016

Develop Med Child Neuro

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“…There are other abnormal eye movements, which clinically appear similar to OGC (Table ). Paroxysmal tonic upgaze is a condition described in children . Episodes are characterized by conjugate upward eye deviation lasting seconds to hours, often with neck flexion to counteract the abnormal upgaze .…”

Section: Ogc Mimickers/differential Diagnosismentioning

confidence: 99%

“…LOC is preserved. In a review of the literature, the age of onset varied from 2 weeks to 90 months with 80% starting before the age of 2 years . Children were neurodevelopmentally normal.…”

Section: Ogc Mimickers/differential Diagnosismentioning

confidence: 99%

“…Children were neurodevelopmentally normal. Episodes stopped spontaneously at 1 to 48 months after onset . The researchers postulated a transient neurotransmitter dysfunction given that some cases responded well to l ‐dopa .…”

Section: Ogc Mimickers/differential Diagnosismentioning

confidence: 99%

“…69 Episodes are characterized by conjugate upward eye deviation lasting seconds to hours, often with neck flexion to counteract the abnormal upgaze. 69 LOC is preserved. In a review of the literature, the age of onset varied from 2 weeks to 90 months with 80% starting before the age of 2 years.…”

Section: Ogc Mimickers/differential Diagnosismentioning

confidence: 99%

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Oculogyric crises: A review of phenomenology, etiology, pathogenesis, and treatment

Slow

Lang

2017

Mov Disord.

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Oculogyric crises are a rare movement disorder characterized by paroxysmal, conjugate, tonic, usually upwards, deviation of the eyes. Causes for oculogyric crises are limited and include complications of dopamine-receptor blocking medications and neurometabolic disorders affecting dopamine metabolism, suggesting that an underlying hypodopaminergic state is important to the pathogenesis. Mimickers of oculogyric crises exist, and we propose diagnostic criteria to distinguish true oculogyric crises. Recognition of oculogyric crises is important for the diagnosis and appropriate treatment of rare disorders, and an approach to investigations in oculogyric crises is proposed. © 2017 International Parkinson and Movement Disorder Society.

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Complex Ocular Motility Disorders in Children

Brodsky

2016

Pediatric Neuro-Ophthalmology

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Paroxysmal tonic upgaze in normal children: A case series and a review of the literature

Cited by 24 publications

References 24 publications

Eye movement disorders are an early manifestation of CACNA1A mutations in children

Eye movement disorders are an early manifestation of CACNA1A mutations in children

Oculogyric crises: A review of phenomenology, etiology, pathogenesis, and treatment

Complex Ocular Motility Disorders in Children

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