Paroxysmal tonic upgaze, eyes rolling, oči v sloup

Forum pro rodice jejichz dite trpi diagnozou velmi vzacneho onemocneni PTU (jinak take benigni paroxysmalni upgaze). Hlavni symptom - otaceni oci v sloup.


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Summary from PubMed

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Paroxysmal tonic upgaze deviation (PTU) is a rare neuro-ophthalmological disorder with onset in infancy or early childhood. It consists of episodes of sustained, conjugate, upward deviation of the eyes, down beating saccades in attempted downgaze, apparently preserved horizontal eye movements, frequent association with mild ataxia or clumsiness at time of illness, normal metabolic, electroencephalographic and neuroradiological findings. Symptoms are frequently relieved by sleep and can be exacerbated by fatigue or illness. Although PTU generally tends to disappear spontaneously within a few months or years, subsequent case reports have demonstrated the heterogeneous nature of the syndrome with respect to outcome. To date, the pathogenesis of the condition is still unknown. We present a new case of PTU with ataxia occurring in an otherwise healthy child, as documented by video recording of the phenomenon.
PMID: 11844715
[PubMed - indexed for MEDLINE] Free full text

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