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...
متن کاملParoxysmal tonic upgaze of childhood with co-existent absence epilepsy.
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...
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...
متن کاملClinical commentary with video sequences Paroxysmal tonic upgaze of childhood with co-existent absence epilepsy
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 کاملDo generalized tonic-clonic seizures in infancy exist?
OBJECTIVE To determine the frequency of generalized tonic-clonic seizures (GTCS) in infants (1 month to 2 years). METHODS From a total of 2,112 patients monitored in our video-EEG lab from May 2000 through January 2005, 109 distinct seizures in 77 infants were reviewed. Eight events in eight patients were excluded because of video files insufficiently reliable to determine the clinical charac...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1989
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-3-1-8