Paroxysmal Tonic Upgaze Of Childhood Research Articles

Benign paroxysmal tonic upgaze of childhood; a rare syndrome

Benign paroxysmal tonic upgaze of childhood; a rare syndrome

Multiple Applications of L-DOPA Therapy in Children with Neurological Disorders - 25 Year Review (P04.178)

Objective: L -Dopa is well known for its use in childhood neurological disorders. formost is Dopa-responsive dystonia, Segawa9s Disease, and its variants. L-Dopa has increasingly been cited in many other childhood neurological diosrders in the literature. This review summarizes athe applications of L-Dopa in childhood based upon extensive computerized literature review expanding the clinical applications in and young adults. Background Previously isloated reports have cited the application of L Dopa in childhood movement disorders but no single review has comprehensively reviewed all the disorders in which L Dopa has been used. Design/Methods: Summarization of medical literature in the past 25 years searching the term L-Dopa in childhood, L -Dopa in Childhood movement disorders, L Dopa in children utilizing Pubmed database and a Cochrane Review was performed.Citations were grouped upon frequency of citation and applicability to clincial practice. Both well known applications and less commonly cited therapies were included. Results: Over 25 years at least 26 different disorders have been reported in childhood utilizing L-Dopa. Most frequent are the disorders related to Dopa responsive dystonia, (Segawa9s disease)and its variants. This includes disorders in dopamine synthesis including tyrosine hydroxylase deficiency and tetrahydrobiopterin pathway disorders. Significant citations also include: Juvenile Parkinson9s disease, Myoclonus- Dystonia, Familial paroxysmal Dystonia, PKAN, Lower Limb Dystonia, Chediak -Hegashi synsdrome, Dystonia-Parkinsonism, Benign Paroxysmal Tonic Upgaze of Childhood, Amblyopia, Aromatic l-aminoacid decarboxylase Deficiency, Restless Legs Syndrome and Attention Deficit Hyperactivity Syndrome, and potential application in Angelman Syndrome. Conclusions: In the past 25 years, over 26 childhood neurological disorders have been described that are responsive to L-Dopa therapy. While many are well known an expanded current application is summarized. This summary brings up to date the prevalent citations and provides a review of the many less commonly and less frequently recognized disorders in childhood for which L-Dopa therapy plays a major role. Disclosure: Dr. Lavenstein has nothing to disclose. Dr. Hecht has nothing to disclose.

Paroxysmal tonic upgaze of childhood and childhood absence epilepsy

Paroxismal tonic upgaze of childhood (PTU) is a distinctive neuro-ophtalmological syndrome of unknown aetiology and pathogenesis that is characterized by episodes of sustained upward deviation of the eyes, often with incomplete downward saccades on attempted downgaze. Only few cases of PTU with co-existent epilepsy have been reported. We describe a case of female child affected by PTU who developed a childhood absence epilepsy (CAE) after 3 years from the beginning of disturbance. During hospitalization she presented repeated absence seizures; after the diagnosis of CAE, we started therapy with valproic acid (VPA). At the 6-month follow-up from the beginning of VPA therapy the child showed the disappearance of absence seizures with normalization of EEG, while no attenuation of PTU was observed. Our case suggests a possible association between PTU and epilepsy.

Benign paroxysmal tonic upgaze of childhood in a hypotonic infant with Beckwith–Wiedemann syndrome

Benign paroxysmal tonic upgaze of childhood in a hypotonic infant with Beckwith–Wiedemann syndrome

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-year-old boy who presented with macrocephaly, hypotonia, developmental delay and episodes of eye fluttering, head nodding and unresponsiveness. Video-EEG captured absence seizures and he was treated with valproate, which led to improvement of his seizures. However, two weeks after treatment, he developed paroxysmal episodes of "eyes up and chin down" movements lasting for hours at a time which were captured by home video. The episodes were relieved by sleep and exacerbated by fever, stress and even tactile stimulation. Increasing the dose of valproate resulted in increased frequency of the episodes. A repeat video-EEG disclosed the non-epileptic nature of these events. Discontinuation of valproate dramatically decreased the episodes. This case illustrates that paroxysmal tonic upgaze of childhood may co-exist with early onset absence epilepsy. Furthermore, valproate treatment may be associated with the development or unmasking of PTU suggesting that the pathophysiology of PTU may involve abnormal GABA neurotransmission. [Published with videosequences].

Paroxysmal Tonic Upgaze of Childhood

Paroxysmal Tonic Upgaze of Childhood

Paroxysmal Tonic Upgaze

This oculomotor syndrome of childhood, originally termed “benign paroxysmal tonic upgaze of childhood” (Ouvrier and Billson, 1988) is reviewed from the Children’s Hospital of Westmead, Sydney, NSW, Australia.

Paroxysmal Tonic Upgaze and Partial Tetrasomy of Chromosome 15: A Novel Genetic Association

Paroxysmal tonic upgaze of childhood is an eye movement abnormality characterized by periodic episodes of conjugate upward eye deviation. Although the spectrum of paroxysmal tonic upgaze has broadened considerably, a specific pathophysiology has not been elucidated. We report an infant with paroxysmal tonic upgaze who presented to his pediatrician with associated hypotonia and gross motor delay. High-resolution chromosome analysis demonstrated a supernumerary dicentric bisatellited marker chromosome. Analysis revealed partial tetrasomy of 15q. Given the significant amount of euchromatin demonstrated, it is likely that the chromosomal abnormalities are causative for the constellation of manifestations in this patient. To date, a specific genetic abnormality has not been associated with paroxysmal tonic upgaze. The finding of a genetic association with paroxysmal tonic upgaze might help characterize the substrate for ophthalmologic manifestations. Further study in this chromosomal region in patients with paroxysmal tonic upgaze is warranted.

Paroxysmal tonic upgaze of childhoodの1例

We described a child who developed paroxysmal abnormal eye movement. At the age of 12 months, she had a high fever and a febrile seizure. On the next day she showed tonic upward deviation of the eyes for 1 to 2 seconds, and downward saccades on attempted downward gaze. The upward deviation was repeated for a period of 2 to 3 hours, and disappeared during sleep. The administration of L-dopa was not effective. The symptoms subsided gradually over 10 months without other neurological impairment. She walked alone at 1 year and 6 months. At the beginning of her walking she showed truncal ataxia, but it gradually disappeared and her development was normal at the age of 2 years and 6 months. These abnormal eye movements and another symptoms were similar to paroxysmal tonic upgaze of childhood (PTU) that has been first described by Ouvrier and Billson (1988) as intermittent upward deviations of eyes. In Japan there was only one report of this syndrome with periventricular leukomalacia and hypomyelination.

Benign paroxysmal tonic upgaze of childhood with ataxia

ABSTRACT 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.

Paroxysmal tonic upgaze of childhood: effect of age‐of‐onset on prognosis

Paroxysmal tonic upgaze (PTU) is a syndrome of childhood manifesting as sudden ocular movements with sustained upward deviation of the eyes. We describe the outcome of 6 patients, after a follow‐up of 10 years, with onset of the disease in childhood. The aims of this study were to clarify some clinical features of this syndrome and to evaluate the long‐term prognosis of these children. In all the patients, tonic upgaze episodes disappeared with time to remission, varying from 1 to 4 y, without any therapy and without any change in psychomotor development, EEG and neuroimaging. Only one child had pathologic interictal EEG with temporo‐occipital spikes, which persisted after the offset of the disease. Conclusion: From a long‐term follow‐up, we can confirm the good prognosis of PTU and suggest it is possible to define a distinct syndrome of childhood without any neurological abnormalities and with spontaneous resolution.

Pediatrics

Paroxysmal tonic upgaze of childhood with ataxia is a rare form of age related dystonia. Out of 12 previously reported cases, three had a clinical history of similar symptoms occurring in at least one first degree relative belonging to the same or two consecutive generations. Autosomal dominant inheritance was therefore hypothesized. We report on a family in which the disorder appeared in three consecutive generations between ages 6 and 11 months, disappearing gradually and spontaneously between ages 18 to 24 months. All affected individuals had normal neurologic development. The pedigree analysis of previously reported cases and of the family reported herein provides strong evidence that the disorder may be inherited as an autosomal dominant trait and represents a form of transient paroxysmal dystonia with benign long-term prognosis.

A case of paroxysmal tonic upgaze of childhood with ataxia

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. Although it has been considered as an age-related, dopa-sensitive dystonia, the exact pathogenetic mechanism is still unknown. Aggravation of attacks by fatigue, intercurrent infection or vaccination, and possible corticomesencephalic dysmaturation may underlie this abnormality. We report on a sporadic case of paroxysmal tonic upgaze with ataxia in which there was prompt aggravation of symptoms with sleep without response to levodopa treatment. This case suggests a different underlying pathogenetic mechanism from dopaminergic pathways for this syndrome.

Benign Paroxysmal Tonic Upgaze of Childhood - A New Syndrome*

A child with intermittent upward deviation of the eyes starting at 9 months of age, compensating bending forward of the head, nystagmus on attempted downward gaze and a mild gait ataxia is described. The symptoms gradually disappeared between 3 and 4 years of age. Four cases with identical clinical findings have been initially described by Ouvrier in Australia (5) as "benign paroxysmal tonic upgaze of childhood". It is apparently a new syndrome.