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Benign Paroxysmal Tonic Upgaze of Childhood with Ataxia

Ouvrier-Billson Syndrome


Presentation

  • We present a new case of PTU with ataxia occurring in an otherwise healthy child, as documented by video recording of the phenomenon.[ncbi.nlm.nih.gov]
  • Jankovic is the recipient of many other honors including the American Academy of Neurology (AAN) Movement Disorders Research Award, sponsored by the Parkinson’s Disease Foundation, the Guthrie Family Humanitarian Award, presented by the Huntington’s Disease[books.google.com]
  • Nesrin Şenbil, Deniz Yılmaz, Deniz Yüksel and Yavuz Gürer, Paroxysmal Tonic Upgaze Presenting as a Clinical Isolated Syndrome, Journal of Child Neurology, 10.1177/0883073808327836, 24, 5, (600-602), (2009).[doi.org]
Asymptomatic
  • Between these periods, the patient remained asymptomatic, and neurological examination was normat. EEG recordings during the episodes showed no abnormalities. Ophthalmological examination.[docslide.com.br]
Sudden Infant Death Syndrome
  • His older son died at two months of age. the death being classified as sudden infant death syndrome.[docslide.com.br]
Italian
  • He is an elected member of the Directory of the Italian League against Epilepsy and a Key Member of the Commission on Pediatrics of the International League against Epilepsy.[books.google.com]
Respiratory Distress
  • Four hours after birth the infant developed respiratory distress requiring positive pressure ventilation maintaining his oxygen saturations above 85% at all times.[deepdyve.com]
  • Commonly associated physical anomalies, occurring in at leas one-third of reported cases, include preterm birth, respiratory distress, growth retardation, microcephaly, strabismus, malformed ears which may be low-set or rotated, congenital heart disease[docslide.com.br]
Recurrent Abdominal Pain
  • Her two older children had experienced recurrent abdominal pain and vomiting, without ketosis, that remitted by eight years of age.[docslide.com.br]
Long Arm
  • Terminal deletion of both long and short arms with ring formation is the most common form, although terminal deletion of the long arm and interstitial deletions also occur.[docslide.com.br]
Short Arm
  • Terminal deletion of both long and short arms with ring formation is the most common form, although terminal deletion of the long arm and interstitial deletions also occur.[docslide.com.br]
Photosensitivity
  • He is well known for his work on the clinical and genetic aspects of epileptogenic cortical dysplasias, myoclonus, photosensitive epilepsies and the epileptic syndromes. Born 1926.[books.google.com]
Withdrawn
  • Two months later the medication was slowly withdrawn, without recurrence of symptoms. The patient walked independently a t 21 months of age.[docslide.com.br]
Pointed Chin
  • Overview A rare eye disorder where the patient has periods of upward deviated eyes with neck flexion involving a downward pointing chin to try to compensate for the abnormal eye position.[checkorphan.org]
Cerebellar Ataxia
  • Tournier-Lasserve LETTER TO THE EDITORS First Online: 03 September 2008 Keywords Sodium Valproate Flunarizine Familial Hemiplegic Migraine Episodic Ataxia Autosomal Dominant Cerebellar Ataxia These keywords were added by machine and not by the authors[link.springer.com]
  • Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss Dystonia 9 Episodic Ataxia, Type 1 Episodic Ataxia, Type 2 Episodic Ataxia, Type 3 Episodic Ataxia, Type ... ...[familydiagnosis.com]
  • Spinocerebellar ataxia is a slowly progressive neurological disorder that is characterized by progressive limb and gait cerebellar ataxia.[epilepsygenetics.net]
  • CAOS-episodic cerebellar ataxia, areflexia, optic atrophy, and sensorineural hearing loss: a third allelic disorder of the ATP1A3 gene. J Child Neurol 2015;30:1749–1756. 28. Aoyagi K, Rossignol E, Hamdan FF, Mulcahy B, Xie L, Nagamatsu S, et al.[e-jmd.org]
  • Brief episodes of cerebellar ataxia lasting seconds or minutes are triggered by sudden movements, emotion or intercurrent illness.[epilepsydiagnosis.org]
Clumsiness
  • The authors describe three new patients in whom an autosomal dominant mode of inheritance was a constant finding, as well as clumsiness and delayed acquisition of independent gait. Treatment with levodopa was of clear benefit.[ncbi.nlm.nih.gov]
  • 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[ncbi.nlm.nih.gov]
  • However, findings not noted previously are mild M ul % 43 7 x s 438 motor clumsiness between the critical periods and delayed acquisition of inde- pendent gait (17 months to four years in our cases).[docslide.com.br]
  • 33 HP:0002312 6 abnormality of the neck 33 HP:0000464 7 parkinsonism with favorable response to dopaminergic medication 33 HP:0002548 8 delayed ability to walk 33 HP:0031936 Symptoms via clinical synopsis from OMIM: 58 Neuro: clumsiness episodic ataxia[malacards.org]
  • He wasgenerally clumsy with bilateral dysdiadochokinesia. By age17 years, his tics had resolved. The nystagmus persisted buthe was otherwise well. DiscussionTo the authors knowledge, this ocular movementdisorder has not been reported previously.[docslide.net]
Average Intelligence
  • When last reviewed at the age of 16 years, neurological examination revealed no abnormalities other than a low-average intelligence; MRI was normal.[docslide.com.br]
Neonatal Seizures
  • Volpe, Neonatal Seizures, Volpe's Neurology of the Newborn, 10.1016/B978-0-323-42876-7.00012-0, (275-321.e14), (2018).[doi.org]
Hyperactivity
  • During this time he would con-tinue to play, but he had to hold his head downward to see.Over the next few years, the eye movements improved, buthe was hyperactive and had learning problems. FIGURE 1Case 3 at 20 months of age.[docslide.net]

Treatment

  • Treatment with levodopa was of clear benefit.[ncbi.nlm.nih.gov]
  • Treatment with levodopa was of clear benefit to our patients. Accepled for publication 14th October 1992. Authors' Appoinrmenrs *J.[docslide.com.br]
  • Treatment - Ouvrier Billson syndrome Not supplied. Resources - Ouvrier Billson syndrome Not supplied.[checkorphan.org]
  • Gilbert directs or participates in a number of single and multi-center studies into causes and treatments of Tourette's syndrome. Dr.[books.google.com]
  • Based on their extensive clinical experience, the authors provide a personal perspective on diagnosis and treatment.[books.google.com]

Prognosis

  • Prognosis - Ouvrier Billson syndrome The \'prognosis\' of Ouvrier-Billson syndrome usually refers to the likely outcome of Ouvrier-Billson syndrome.[checkorphan.org]
  • […] 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[ncbi.nlm.nih.gov]
  • A Verrotti, D Trotta, A Blasetti, L Lobefalo, P Gallenga and F Chiarelli, Paroxysmal tonic upgaze of childhood: effect of age‐of‐onset on prognosis, Acta Paediatrica, 90, 11, (1343-1355), (2007).[doi.org]
  • […] that influence the prognosis of cryptogenic partial seizures were determined in 233 patients (136 male, 97 female) followed at the outpatient clinic of Shanghai Xin Hua Hospital, Shanghai, China.[digitalhub.northwestern.edu]
  • U. (1990) response and prognosis. Neurology, 41, 174-181. Benign paroxysmal tonic upgaze of childhood. A Owner, R. A., Billson, F. (1988j Benign paroxysmal new syndrome. Neuropediurrrcs, 21, 2 13-2 14. ronic upgaze of childhood.[docslide.com.br]

Etiology

  • We observed 16 children with PTU, from 10 months to 11 years from onset (mean, 5.4 years), to study the natural history and possible etiology. Five cases were from two unrelated families.[doi.org]
  • For example, staring spells or shaking that are infrequent and do not appear threatening can be managed as “paroxysmal events of uncertain etiology” until a specific diagnosis is made.[notes.childrenshospital.org]
  • The etiology of non-epileptic seizures is heterogeneous, with different predisposing, precipitating and promoting factors in different affected individuals.[epilepsydiagnosis.org]
  • Although our knowledgeand understanding of the etiology of white matter diseaseshas progressively increased, many cases with this disorderremain undiagnosed, despite extensive evaluations.[dokument.tips]

Pathophysiology

  • He is well known for his work on the classification of myoclonus and his studies on the physiology and pathophysiology of voluntary movement including dystonia.[books.google.com]
  • His main research interest is in movement disorders, specifically the merging of clinical, electrophysiological and imaging methods to provide insights into the pathophysiology of conditions like dystonia and Parkinson's disease.[books.google.com]
  • His translational research-oriented laboratory focuses on autoimmune mechanisms in autism, PANDAS, the neurobiology of tics, and the pathophysiology of stereotypic movements in animal models.[books.google.com]
  • An immature cortico-mesencephalic control of vertical gaze is postulated as the pathophysiology.[pediatricneurologybriefs.com]
  • The pathophysiological mechanisms are unknown. A localized neurotrans- mitter dysfunction affecting supranuclear pathways that control vertical eye- movements has been proposed by Ouvrier and Billson (1988).[docslide.com.br]

Prevention

  • Prevention - Ouvrier Billson syndrome Not supplied. Diagnosis - Ouvrier Billson syndrome Not supplied.[checkorphan.org]
  • Gordon Publisher: Galter Health Sciences Library, Pediatric Neurology Briefs Publishers Language: English Date Created: 2007 Rights: Resource Type: Article Original Identifier: PNB-21-58-a Title: Epilepsy and Comorbid Mental Retardation Abstract: Preventable[digitalhub.northwestern.edu]
  • Nitrazepam did not prevent the eyes from turning.By age 23 months, he was still having episodes of upwardrolling lasting half an hour.[docslide.net]
  • The retained awareness and history of triggers should prevent misdiagnosis as focal seizures.[epilepsydiagnosis.org]
  • Acetazolamide can prevent the attacks by reducing arterial pH, but it may cause kidney stones.[e-jmd.org]

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