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Pediatric dystonia

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https://www.readbyqxmd.com/read/29664508/oral-self-mutilation-in-lesch-nyhan-syndrome-case-report
#1
Andrés Campolo González, Alex Vargas Díaz, Daniel Fontboté Riesco, Marta Hernández Chávez
INTRODUCTION: Lesch-Nyhan syndrome (LNS) is an inherited recessive X-related disorder caused by the deficiency of the enzyme hypoxanthin-guanine phosphorribosyl transferase (HPRT). Compul sive self-mutilation and dystonia occurs before the first year of age and is expressed by persistent bites on the oral mucosa, lips, tongue, fingers, and shoulders. The dental intervention performed on most of these patients is multiple tooth extraction to prevent serious secondary lesions. OBJECTIVE: To present a clinical case of LNS and describe pediatric dentistry management in patients with self-mutilating behavior...
February 2018: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/29661126/gnao1-mutation-induced-pediatric-dystonic-storm-rescue-with-pallidal-deep-brain-stimulation
#2
C Michael Honey, Armaan K Malhotra, Maja Tarailo-Graovac, Clara D M van Karnebeek, Gabriella Horvath, Adi Sulistyanto
Dystonic storm or status dystonicus is a life-threatening hyperkinetic movement disorder with biochemical alterations due to the excessive muscle contractions. The medical management can require pediatric intensive care unit admission and a combination of medications while the underlying trigger is managed. Severe cases may require general anesthesia and paralytic agents with intubation and may relapse when these drugs are weaned. Deep brain stimulation of the globus pallidum has been reported to terminate dystonic storm in several pediatric cases...
May 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29628597/anesthetic-management-in-pediatric-patient-for-percutaneous-endoscopic-gastrostomy-with-mitochondrial-myopathy-leigh-syndrome
#3
Ebru Tarikçi Kiliç, Nelgin Gerenli, Mehmet Salim Akdemir, Necmi Onur Tastan, Egemen Atag
Leigh syndrome (LS) is a rare disease mainly affecting the central nervous system due to the abnormalities of mitochondrial energy generation and seen in early childhood with progressive loss of movement, mental abilities, seizures, nystagmus, ophthalmoparesis, optic atrophy, ataxia, dystonia, or respiratory failure. Anesthesia and surgery exacerbate the risks of aspiration, wheezing, and breathing difficulties. Tracheal irritability can be stimulated with the efforts of intubation. We report the anesthetic management of a rare case of an 11-year-old boy with a severe form of LS for percutaneous endoscopic gastrostomy insertion...
January 2018: Anesthesia, Essays and Researches
https://www.readbyqxmd.com/read/29520331/reversal-of-status-dystonicus-after-relocation-of-pallidal-electrodes-in-dyt6-generalized-dystonia
#4
D L Marinus Oterdoom, Martje E van Egmond, Luisa Cassini Ascencao, J Marc C van Dijk, Assel Saryyeva, Martijn Beudel, Joachim Runge, Tom J de Koning, Mahmoud Abdallat, Hendriekje Eggink, Marina A J Tijssen, Joachim K Krauss
Background: DYT6 dystonia can have an unpredictable clinical course and the result of deep brain stimulation (DBS) of the internal part of the globus pallidus (GPi) is known to be less robust than in other forms of autosomal dominant dystonia. Patients who had previous stereotactic surgery with insufficient clinical benefit form a particular challenge with very limited other treatment options available. Case Report: A pediatric DYT6 patient unexpectedly deteriorated to status dystonicus 1 year after GPi DBS implantation with good initial clinical response...
2018: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29520252/management-of-refractory-orofacial-dyskinesia-caused-by-anti-n-methyl-d-aspartate-receptor-encephalitis-using-botulinum-toxin
#5
Feixia Zheng, Xiuyun Ye, Xulai Shi, Neha Devi Poonit, Zhongdong Lin
The use of botulinum neurotoxin serotype A (BoNT-A) injections for the treatment of orofacial dyskinesia secondary to anti- N -methyl-d-aspartate receptor (NMDAR) encephalitis is rarely reported. Here, we report a case of an urgent, successful management of severe orofacial dyskinesia in an 8-year-old girl with anti-NMDAR encephalitis using BoNT-A injection. The patient presented with de novo unilateral paroxysmal movement disorder progressing to generalized dystonia and repetitive orofacial dyskinesia. Diagnosis was confirmed by the presence of NMDAR antibodies in serum and cerebrospinal fluid...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29503328/pediatric-movement-disorders
#6
REVIEW
Rahul Badheka, Narendra Kumar Barad, Charulata Savant Sankhla
Pediatric movement disorders are commonly encountered clinical entities in the pediatric outpatient department. These disorders are a heterogenous group of disorders and may represent an underlying genetic disorder, a metabolic disorder or a hypoxic-ischemic insult during the perinatal period. Hyperkinetic movement disorders are more common as compared to hypokinetic disorders. This is unlike the situation in adult movement disorders where hypokinetic disorders are more often seen. A child's nervous system is more prone to hypoxic-ischemic insults due to its higher metabolic demands and the presence of an immature blood-brain barrier...
March 2018: Neurology India
https://www.readbyqxmd.com/read/29500071/transient-regional-cerebral-hypoperfusion-during-a-paroxysmal-hemiplegic-event-in-glut1-deficiency-syndrome
#7
Mohamed Almuqbil, Michael J Rivkin, Masanori Takeoka, Edward Yang, Lance H Rodan
GLUT1 deficiency syndrome (GLUT1DS) is a well described neurometabolic disorder that results from impaired glucose transport into the central nervous system. GLUT1DS classically presents with infantile-onset epilepsy, progressive microcephaly, developmental delay, ataxia, dystonia, and spasticity, but a minority of patients may manifest with paroxysmal non-epileptic phenomena including hemiparesis (Wang et al., 2002). We report for the first time cerebral perfusion changes during an acute episode of hemiparesis in a 9 year old child with GLUT1DS...
February 19, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29494321/clinical-practice-guideline-hoarseness-dysphonia-update
#8
Robert J Stachler, David O Francis, Seth R Schwartz, Cecelia C Damask, German P Digoy, Helene J Krouse, Scott J McCoy, Daniel R Ouellette, Rita R Patel, Charles Charlie W Reavis, Libby J Smith, Marshall Smith, Steven W Strode, Peak Woo, Lorraine C Nnacheta
Objective This guideline provides evidence-based recommendations on treating patients who present with dysphonia, which is characterized by altered vocal quality, pitch, loudness, or vocal effort that impairs communication and/or quality of life. Dysphonia affects nearly one-third of the population at some point in its life. This guideline applies to all age groups evaluated in a setting where dysphonia would be identified or managed. It is intended for all clinicians who are likely to diagnose and treat patients with dysphonia...
March 2018: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/29494316/clinical-practice-guideline-hoarseness-dysphonia-update-executive-summary
#9
Robert J Stachler, David O Francis, Seth R Schwartz, Cecelia C Damask, German P Digoy, Helene J Krouse, Scott J McCoy, Daniel R Ouellette, Rita R Patel, Charles Charlie W Reavis, Libby J Smith, Marshall Smith, Steven W Strode, Peak Woo, Lorraine C Nnacheta
Objective This guideline provides evidence-based recommendations on treating patients presenting with dysphonia, which is characterized by altered vocal quality, pitch, loudness, or vocal effort that impairs communication and/or quality of life. Dysphonia affects nearly one-third of the population at some point in its life. This guideline applies to all age groups evaluated in a setting where dysphonia would be identified or managed. It is intended for all clinicians who are likely to diagnose and treat patients with dysphonia...
March 2018: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/29475818/outcome-measures-for-children-with-movement-disorders
#10
REVIEW
Emanuela Pagliano, Giovanni Baranello, Riccardo Masson, Maria Foscan, Maria Teresa Arnoldi, Alessia Marchi, Giorgia Aprile, Chiara Pantaleoni
The huge contribution of advances in the pediatric neurosciences, improvements in clinical practice, and new therapeutic options, has led to the development of new models of treatment and rehabilitation for dystonia in the last decade. It is now generally agreed that a multidimensional therapeutic approach is needed for children with motor disorders, whose motor function-conceived as a complex perceptive, motor and cognitive process - is impaired at a crucial time in their development, with a fall out on how their various adaptive functions evolve...
February 8, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29396174/diagnosis-and-treatment-of-pediatric-onset-isolated-dystonia
#11
REVIEW
Giovanna Zorzi, Miryam Carecchio, Federica Zibordi, Barbara Garavaglia, Nardo Nardocci
Isolated dystonia refers to a genetic heterogeneous group of progressive conditions with onset of symptoms during childhood or adolescence, progressive course with frequent generalization and marked functional impairment. There are well-known monogenic forms of isolated dystonia with pediatric onset such as DYT1 and DYT6 transmitted with autosomal dominant inheritance and low penetrance. Genetic findings of the past years have widened the etiological spectrum and the phenotype. The recently discovered genes (GNAL, ANO-3, KTM2B) or variant of already known diseases, such as Ataxia-Teleangectasia, are emerging as another causes of pediatric onset dystonia, sometimes with a more complex phenotype, but their incidence is unknown and still a considerable number of cases remains genetically undetermined...
January 17, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29372853/a-standardized-protocol-to-reduce-pediatric-baclofen-pump-infections-a-quality-improvement-initiative
#12
Virendra R Desai, Jeffrey S Raskin, Arvind Mohan, JoWinsyl Montojo, Valentina Briceño, Daniel J Curry, Sandi Lam
OBJECTIVE Intrathecal baclofen pumps are generally placed in children for the treatment of spasticity and dystonia. Use of implants in this pediatric population with comorbidities is reported to have a high risk of complications and infections. With the aim of reducing baclofen pump-related infections, a quality improvement project was instituted at the authors' institution. METHODS A workflow paradigm unique to baclofen pump implantation aimed at decreasing implant-related infections was implemented. All baclofen pump operations performed at the authors' institution between August 2012 and June 2016 were reviewed...
April 2018: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29325858/can-clinical-neurophysiology-assist-in-patient-selection-for-dbs-in-pediatric-dystonia
#13
EDITORIAL
Stephen Tisch
No abstract text is available yet for this article.
December 24, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29238716/pediatric-multiple-sclerosis-in-tunisia-a-retrospective-study-over-11-years
#14
Nedia Ben Achour, Ibtihel Rebai, Sarra Raddadi, Hanene Benrhouma, Hedia Klaa, Aida Rouissi, Ichraf Kraoua, Ilhem Ben Youssef Turki
Introduction: Pediatric multiple sclerosis (pMS) is a rare demyelinating disorder with an onset before the age of 18 years. In this study, we aimed to investigate the characteristics of pMS in Tunisian children. Patients and Methods: We conducted a retrospective study over 11 years (2005-2016) including all patients diagnosed with pMS according to the International Pediatric Multiple Sclerosis Study Group (IPMSSG) criteria of 2012 and followed up in a tertiary care research center...
2017: BioMed Research International
https://www.readbyqxmd.com/read/29122973/capsaicin-cream-for-treatment-of-cannabinoid-hyperemesis-syndrome-in-adolescents-a-case-series
#15
Jessica Graham, Michael Barberio, George Sam Wang
Cannabinoid hyperemesis syndrome (CHS) is an underrecognized diagnosis among adolescents. In the adult literature, it is characterized as nausea, vomiting, and abdominal pain in patients with chronic marijuana use. CHS is often refractory to the standard treatment of nausea and vomiting. Unconventional antiemetics, such as haloperidol, have been successful in alleviating symptoms; however, even 1 dose of haloperidol can lead to grave adverse effects, such as dystonia, extrapyramidal reactions, and neuroleptic malignant syndrome...
December 2017: Pediatrics
https://www.readbyqxmd.com/read/29026886/clinical-characteristics-of-acute-drug-induced-dystonia-in-pediatric-patients
#16
Hyun Woong Park, Jae Ryung Kwak, Ji Sook Lee
OBJECTIVE: Dystonia is a movement disorder in which muscles contract uncontrollably. Acute drug-induced dystonia (DID) can be diagnosed through detailed history taking and physical examination. This study aimed to identify the clinical characteristics of DID in children, which could help emergency physicians diagnose these conditions more efficiently. METHODS: We reviewed medical records of children aged below 18 years diagnosed with drug-related dystonia after discharge from the emergency department over 10 years...
September 2017: Clinical and Experimental Emergency Medicine
https://www.readbyqxmd.com/read/28881514/-phenotypic-and-genotypic-features-of-twenty-children-with-classic-pantothenate-kinase-associated-neurodegeneration
#17
J Zhou, J He, L P Kou, H C Feng, Y H Deng, Z B Zhang, L Zhou, J M Wang, Y W Jiang, Y Wu
Objective: To explore the phenotypic and genotypic characteristics in Chinese children with classic pantothenate kinase-associated neurodegeneration (PKAN). Method: The clinical, radiographic and genetic data of all PKAN patients diagnosed at pediatric department of Peking University First Hospital from November 2006 to December 2016 were retrospectively collected and analyzed. Result: Twenty patients with classic PKAN were included in the study. The median age at onset was 3.5 years (ranging from 1.0 to 10...
September 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28845923/clinical-rating-scale-for-pantothenate-kinase-associated-neurodegeneration-a-pilot-study
#18
Alejandra Darling, Cristina Tello, María Josep Martí, Cristina Garrido, Sergio Aguilera-Albesa, Miguel Tomás Vila, Itziar Gastón, Marcos Madruga, Luis González Gutiérrez, Julio Ramos Lizana, Montserrat Pujol, Tania Gavilán Iglesias, Kylee Tustin, Jean Pierre Lin, Giovanna Zorzi, Nardo Nardocci, Loreto Martorell, Gustavo Lorenzo Sanz, Fuencisla Gutiérrez, Pedro J García, Lidia Vela, Carlos Hernández Lahoz, Juan Darío Ortigoza Escobar, Laura Martí Sánchez, Fradique Moreira, Miguel Coelho, Leonor Correia Guedes, Ana Castro Caldas, Joaquim Ferreira, Paula Pires, Cristina Costa, Paulo Rego, Marina Magalhães, María Stamelou, Daniel Cuadras Pallejà, Carmen Rodríguez-Blazquez, Pablo Martínez-Martín, Vincenzo Lupo, Leonidas Stefanis, Roser Pons, Carmen Espinós, Teresa Temudo, Belén Pérez Dueñas
BACKGROUND: Pantothenate kinase-associated neurodegeneration is a progressive neurological disorder occurring in both childhood and adulthood. The objective of this study was to design and pilot-test a disease-specific clinical rating scale for the assessment of patients with pantothenate kinase-associated neurodegeneration. METHODS: In this international cross-sectional study, patients were examined at the referral centers following a standardized protocol. The motor examination was filmed, allowing 3 independent specialists in movement disorders to analyze 28 patients for interrater reliability assessment...
August 28, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28716516/hypertonia
#19
Sarah Helen Evans, Mark William Cameron, Justin Michael Burton
Hypertonia is the abnormal increase in muscle tone as a result of upper motor neuron lesions. There are three following clinical types: spasticity, dystonia, and rigidity. Management of hypertonia is individualized and should be directed by the patient and/or family׳s goals of care as well as the underlying cause of the hypertonia. Treatment options include stretching, strengthening, positioning, oral medications, botulinum toxin injections, phenol injections, as well as surgical procedures. Without effective management, hypertonia can result in muscle imbalance, abnormal movement patterns, pain, joint contracture, joint deformity, and ultimately negatively impact a patient׳s function...
July 2017: Current Problems in Pediatric and Adolescent Health Care
https://www.readbyqxmd.com/read/28697164/the-use-safety-and-efficacy-of-olanzapine-in-a-level-i-pediatric-trauma-center-emergency-department-over-a-10-year-period
#20
Jon B Cole, Lauren R Klein, Ashley M Strobel, Stephane R Blanchard, Rebecca Nahum, Marc L Martel
OBJECTIVES: Olanzapine is a second-generation antipsychotic increasingly used in emergency medicine for many indications. Literature on its use in children is sparse. Our objectives were to describe the use, safety, and efficacy of olanzapine in pediatric emergency patients. METHODS: A structured chart review was performed of patients 18 years old or younger receiving olanzapine from 2007 to 2016 in the emergency department of a pediatric level I trauma center. RESULTS: A total of 285 children received olanzapine...
July 11, 2017: Pediatric Emergency Care
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