Paroxysmal upward gaze of infancy
WebParoxysmal tonic upward gaze constitutes a neuro-ophthalmologic syndrome characterized by episodes of sustained conjugate upward deviation of the eyes, normal horizontal gaze, and ataxia. Its pathogenesis is unknown, and the etiology is heterogeneous. The prognosis is variable. We present a case of "idiopathic paroxysmal tonic upward gaze" with ... Web1 Oct 2010 · We report a 10-month-old infant with benign tonic paroxysmal upward gaze. The clinical picture is identical to that described in 8 previously reported patients. This syndrome appears to be unique ...
Paroxysmal upward gaze of infancy
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Paroxysmal tonic upgaze (PTU) of childhood is a rare and distinctive neuro-ophthalmological syndrome characterized by episodes of sustained upward deviation of the eyes. Symptoms normally appear in babies under one year of age and are characterized by an upward stare or gaze, with the eyes rolled … See more Babies suffering from PTU may exhibit normal or slightly jerky side-to-side eye movement, nausea, irritability, frequent sleep, developmental and language delays, vertigo and loss of muscle tone. The condition is … See more PTU was first described in 1988. As of 2002, approximately fifty cases had been diagnosed. Because the condition is so rare, the majority of physicians have never seen it, and thus may not recognize it. Videotaping a child both in and out of the upgaze state can be … See more This condition has been associated with mutations in the following genes: CACNA1A, GRID2 and SEPSECS. See more Because of the rarity of this condition there are few reports of successful treatment. Carbonic anhydrase inhibition has been reported to work in a small series. See more WebParoxysmal tonic upgaze of childhood is characterized by sustained conjugate upward deviation of the eyes with downbeating saccades in attempted downgaze . Neurologic, …
WebCACNA1A related disorders manifest as a wide spectrum of paroxysmal neurological disorders: episodic ataxia 2, hemiplegic migraine, benign paroxysmal torticollis of infancy, and paroxysmal vertigo. Paroxysmal tonic upward gaze as a phenomenon in patients with mutations in the CACNA1A gene has only been reported once. Methods: We describe … Web暨南大学,数字图书馆. 开馆时间：周一至周日7:00-22:30 周五 7:00-12:00; 我的图书馆
WebObjective: Paroxysmal tonic upward gaze was initially described as a benign phenomenon with negative investigations and eventual complete resolution of symptoms. Later … Web1 Jan 2002 · Article: Paroxysmal Tonic Upgaze: Age of Onset and Prognosis Six children who developed paroxysmal tonic upgaze (PTU) at 2.6 to 7.4 years of age were examined …
Web2 Feb 2024 · The first was a 3-month-old infant with partial tetrasomy of chromosome 15. 9 The second was a 2-year-old girl with Angelman syndrome caused by a maternal deletion of 15q11-13. 10 The third was a 13 ... Leshinsky-Silver E, Michelson M, et al. Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A. Eur J Paediatr Neurol ...
Web1 Jan 1999 · Paroxysmal tonic upgaze of childhood is a rare, distinctive, childhood syndrome that may be associated with ataxia and sometimes strabismus or amblyopia. Neurological examination as well as metabolic studies, electroencephalogram and neuroradiological investigations are normal in these patients. ezr 使い方 本Web24 Sep 2024 · Objective: Investigate the clinical manifestations and genotypes of paroxysmal tonic upgaze (PTU) in Chinese children.Patients and Methods: We report the clinical manifestations and genetic test results of four pediatric PTU patients in China. Recent articles on PTU cases are also summarized and analyzed.Results: The onset age … hikmah diadakan larangan dalam ihramhikmah dibalik peristiwa hijrah ke madinah kecualiWebParoxysmal tonic upward gaze constitutes a neuro-ophthalmologic syndrome characterized by episodes of sustained conjugate upward deviation of the eyes, normal horizontal gaze, … ezrzzWeb7 Oct 2024 · Paroxysmal events are frequent in infancy. In one population-based cohort, they occurred in 9 percent of those in the first year of life [ 1 ]. While seizures and epilepsy are … ezr 引用Web1 Feb 2024 · Paroxysmal tonic upgaze (PTU) is an infantile-onset paroxysmal neurological disorder that is characterized by episodes of variably sustained conjugate upward eye deviation, with neck flexion, down-beating saccades in attempted downgaze, and preserved horizontal eye movements. 1 Herein, we report a case of PTU who was initially … hikmah dibalik daging halalWeb1 Mar 2024 · Paroxysmal non-epileptic events (PNEE) were observed in 68% of infants, with paroxysmal tonic upward gaze (PTU) noticed in 47% of infants. Congenital cerebellar ataxia (CCA) was diagnosed in 51% of patients including four patients with developmental delay and only one neurological sign. ezr 外れ値