Paroxysmal Tonic Upgaze: Age of Onset and Prognosis
نویسندگان
چکیده
منابع مشابه
Paroxysmal tonic upgaze of childhood--a review.
Ouvrier and Billson (1988) were apparently the first to describe this entity. In the four original cases, the clinical features were as follows: (1) onset usually under 1 year of age, (2) episodes of variably sustained conjugate upward deviation of the eyes, with neck flexion (chin down) apparently compensating for the abnormal eye position, (3) downbeating saccades in attempted downgaze, (4) n...
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Paroxysmal tonic upgaze (PTU) is a childhood oculomotor syndrome of unclear etiology characterized by episodic tonic upward eye deviation with neck flexion. Neuroimaging findings are often normal and the electroencephalography during episodes is typically normal. We describe a 2-year-old boy who presented with macrocephaly, hypotonia, developmental delay and episodes of eye fluttering, head nod...
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Paroxysmal tonic upgaze (PTU) is a childhood oculomotor syndrome of unclear etiology characterized by episodic tonic upward eye deviation with neck flexion. Neuroimaging findings are often normal and the electroencephalography during episodes is typically normal. We describe a 2-yearold boy who presented with macrocephaly, hypotonia, developmental delay and episodes of eye fluttering, head nodd...
متن کاملDeletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans.
OBJECTIVE To identify the genetic cause of a syndrome causing cerebellar ataxia and eye movement abnormalities. METHODS We identified 2 families with cerebellar ataxia, eye movement abnormalities, and global developmental delay. We performed genetic analyses including single nucleotide polymorphism genotyping, linkage analysis, array comparative genomic hybridization, quantitative PCR, and Sa...
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Objective: To investigate possible immunological humoral correlates in newly diagnosed adult-onset generalized tonic-clonic epilepsy among Iranian patients before and after sodium valproate treatment. Patients and Methods: 72 adult patients with newly diagnosed idiopathic generalized tonic-clonic epilepsy were recruited. Serum antinuclear antibodies (ANA), anti-cardiolipin antibodies (aCL), a...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2002
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-16-1-8