keyword
MENU ▼
Read by QxMD icon Read
search

Ballismus

keyword
https://www.readbyqxmd.com/read/30001695/xanthine-calculi-in-a-patient-with-lesch-nyhan-syndrome-and-factor-v-leiden-treated-with-allopurinol-case-report
#1
Lisa B E Shields, Dennis S Peppas, Eran Rosenberg
BACKGROUND: Lesch-Nyhan syndrome is a rare inborn error of purine metabolism marked by a complete deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Inherited as an X-linked recessive genetic disorder that primarily affects males, patients with Lesch-Nyhan syndrome exhibit severe neurological impairments, including choreoathetosis, ballismus, cognitive dysfunction, and self-injurious behavior. Uric acid levels are usually abnormally high, leading to kidney and bladder stones which often necessitate urological intervention...
July 12, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29925556/bilateral-chorea-ballismus-detection-and-management-of-a-rare-complication-of-non-ketotic-hyperglycaemia
#2
Venkata Sunil Bendi, Abhishek Matta, Diego Torres-Russotto, James Shou
Non-ketotic hyperglycaemia (NKH) is the most common metabolic cause of hemichorea-hemiballismus (HC-HB) and an often-reversible condition. A 68-year-old man presented to the emergency department with a severe hyperglycaemic episode and altered mental status. He was treated appropriately and discharged home after his blood glucose levels were normal with an improvement of mental status. Four weeks after the discharge, he returned with flailing movements of bilateral upper and lower limbs. MRI of the brain revealed hyperintensities of the bilateral putamen on T1-weighted imaging...
June 19, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29852244/gain-of-function-kcnj6-mutation-in-a-severe-hyperkinetic-movement-disorder-phenotype
#3
Gabriella A Horvath, Yulin Zhao, Maja Tarailo-Graovac, Cyrus Boelman, Harinder Gill, Casper Shyr, James Lee, Ingrid Blydt-Hansen, Britt I Drögemöller, Jacqueline Moreland, Colin J Ross, Wyeth W Wasserman, Andrea Masotti, Paul A Slesinger, Clara D M van Karnebeek
Here, we describe a fourth case of a human with a de novo KCNJ6 (GIRK2) mutation, who presented with clinical findings of severe hyperkinetic movement disorder and developmental delay, similar to the Keppen-Lubinsky syndrome but without lipodystrophy. Whole-exome sequencing of the patient's DNA revealed a heterozygous de novo variant in the KCNJ6 (c.512T>G, p.Leu171Arg). We conducted in vitro functional studies to determine if this Leu-to-Arg mutation alters the function of GIRK2 channels. Heterologous expression of the mutant GIRK2 channel alone produced an aberrant basal inward current that lacked G protein activation, lost K+ selectivity and gained Ca2+ permeability...
August 1, 2018: Neuroscience
https://www.readbyqxmd.com/read/29044699/diabetic-striatopathy-manifesting-as-severe-consciousness-disturbance-with-no-involuntary-movements
#4
H Sato, M Hamano, E Fushimi, T Takahashi, Y Horikawa, S Horiguchi
BACKGROUND: Diabetic striatopathy, one of the complications of diabetes mellitus, is characterized by involuntary movements, including hemichorea and hemiballismus, and the presence of hyperintense lesions on T1-weighted magnetic resonance imaging of the striatum. CASE REPORT: We present a case of diabetic striatopathy manifesting as severe consciousness disturbance without chorea or ballismus. A 58-year-old man was admitted to our hospital in a state of unconsciousness...
December 2017: Diabetic Medicine: a Journal of the British Diabetic Association
https://www.readbyqxmd.com/read/28782500/unapparent-hypoxanthine-guanine-phosphoribosyltransferase-deficiency
#5
R J Torres, S Puente, A Menendez, N Fernandez-Garcia
Complete deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity causes Lesch Nyhan disease (LND), characterized by hyperuricemia, severe action dystonia, choreoathetosis, ballismus, cognitive and attention deficit and self-injurious behavior. Partial HPRT deficiency is present in patients with Lesch-Nyhan variant (LNV), who present with HPRT-related gout and a variable degree of neurological involvement. The diagnosis of HPRT deficiency relies on clinical, biochemical, enzymatic and molecular data...
September 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28658838/hemi-chorea-in-a-patient-with-ketotic-hyperglycemia-an-unusual-presentation
#6
Pendela Venkata Satish, Kudaravalli Pujitha, Neha Agrawal, Thomas Mathew, Sudha Vidyasagar
Chorea has often been associated with lesions in the basal ganglia and in the sub thalamic nucleus. It is possible for a patient with chorea-ballismus to have hyperglycemia at the initial presentation. We hereby present a case of an 81-year-old female, who was on treatment for type 2 diabetes mellitus and presented to us with sub acute onset of abnormal movements of right side of the body. She had semi purposeful, rapid and jerky movements of right upper limb and lower limb along with abnormal tongue movements...
May 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28360574/chorea-ballismus-associated-with-hyperglycemia
#7
Elif Kocasoy Orhan, M Mert Atmaca, Melek Atmaca, Haşmet A Hanağasi
Chorea-ballismus which is a rare complication of nonketotic hyperglycemia may be the first symptom of type 2 diabetes mellitus. In this paper, we present two patients, who had involuntary movements and were diagnosed as having ballismus-chorea associated with nonketotic hyperglycemia. While one of the patients was not diagnosed with diabetes mellitus, the other one did not administer insulin therapy for a long time which was prescribed. The patients were investigated by cranial imaging and biochemical tests...
December 2013: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/28057843/diphenhydramine-for-acute-extrapyramidal-symptoms-after-propofol-administration
#8
James Sherer, Tomas Salazar, Kevin B Schesing, Shannon McPartland, Jeffrey Kornitzer
Extrapyramidal symptoms are an uncommon but well-recognized side effect after the administration of general anesthesia in patients without a significant neurologic history. Several case reports implicate propofol as the likely causative agent producing these symptoms, which include ballismus, dystonia, choreoathetosis, and opisthotonus. Currently, there is no clear consensus on first-line treatment of these symptoms. In each of the published cases, anticholinergic medications and benzodiazepines were central to initial management, although the speed and extent of symptom resolution were variable...
February 2017: Pediatrics
https://www.readbyqxmd.com/read/27068059/clinical-course-of-six-children-with-gnao1-mutations-causing-a-severe-and-distinctive-movement-disorder
#9
Amitha L Ananth, Amy Robichaux-Viehoever, Young-Min Kim, Andrea Hanson-Kahn, Rachel Cox, Gregory M Enns, Jonathan Strober, Marcia Willing, Bradley L Schlaggar, Yvonne W Wu, Jonathan A Bernstein
OBJECTIVES: Mutations in GNAO1 have been described in 11 patients to date. Although most of these individuals had epileptic encephalopathy, four patients had a severe movement disorder as the prominent feature. We describe the largest series of patients with de novoGNAO1 mutations who have severe chorea, developmental delay, and hypotonia in the absence of epilepsy. METHODS: Six patients with recurrent missense mutations in GNAO1 as detected by whole exome sequencing were identified at three institutions...
June 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/26803189/nonketotic-hyperglycemia-presenting-as-monoballism
#10
Amitesh Aggarwal, Nitin Bansal, Raghav Aggarwal
BACKGROUND: Monoballismus is rarely seen clinically, but when observed, it is usually a manifestation of an acute cerebrovascular accident (CVA). We report a case of monoballismus observed in a patient without evidence of a CVA. CASE REPORT: We observed a case of monoballismus in a 60-year-old diabetic patient who had not had a stroke. The movement disorder resolved with improvement of the patient's hyperglycemia. Nonketotic hyperglycemia is an uncommon cause of ballismus...
March 2016: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/26110802/movement-disorders-emergencies
#11
REVIEW
Renato P Munhoz, Laura M Scorr, Stewart A Factor
PURPOSE OF REVIEW: Although movement disorders are traditionally viewed as chronic diseases that are followed electively, a growing number of these patients present with acute, severe syndromes or complications of their underlying neurological problem. Identifying and managing movement disorders emergencies is challenging, even for the specialist. This review summarizes evidence outlining the clinical presentation of acute, life-threatening movement disorders. RECENT FINDINGS: We review the most significant aspects in the most common movement disorders emergencies, including acute complications related to Parkinson's disease and parkinsonism, serotonergic, and neuroleptic malignant syndromes, chorea, ballismus, dystonia, myoclonus, and tics...
August 2015: Current Opinion in Neurology
https://www.readbyqxmd.com/read/24421947/classic-neuroimaging-findings-of-nonketotic-hyperglycemia-on-computed-tomography-and-magnetic-resonance-imaging-with-absence-of-typical-movement-disorder-symptoms-hemichorea-hemiballism
#12
Barry G Hansford, Dara Albert, Edward Yang
While there are broad differential diagnoses for either the clinical finding of hemichorea-hemiballism or the imaging finding of lateralizing/asymmetric basal ganglia lesions (hyperdense on computed tomography, hyperintense on T1 magnetic resonance imaging), the presence of both findings is highly suggestive of nonketotic hyperglycemia. We present an unusual case of a patient with vague stroke-like complaints and imaging findings notable for lateralizing basal ganglia lesions. Laboratory analysis revealed nonketotic hyperglycemia and neurologic exam failed to elicit any findings of movement disorder...
August 2013: Journal of Radiology Case Reports
https://www.readbyqxmd.com/read/24314682/movement-disorders-in-multiple-sclerosis
#13
REVIEW
Patricia K Oakes, Sindhu R Srivatsal, Marie Y Davis, Ali Samii
Movement disorders constitute a subspecialty of neurology focusing on a variety of conditions characterized by hypokinetic, hyperkinetic, or abnormally coordinated movements including, among others, tremor, dystonia, parkinsonism, myoclonus, chorea, ballismus, tics, restless limbs, and ataxia. The term "movement disorders" may be used to refer to either abnormal movements or syndromes that cause these abnormal movements. The classification of movement disorders is based on phenomenology, individual syndromes, or etiology...
November 2013: Physical Medicine and Rehabilitation Clinics of North America
https://www.readbyqxmd.com/read/23185174/pure-hemi-chorea-resulting-from-an-acute-phase-of-contralateral-thalamic-lacunar-infarction-a-case-report
#14
Teruyuki Takahashi, Hideaki Kanamori, Rihiro Shigehara, Sachiko Nonaka Takahashi, Masato Tamura, Toshiaki Takasu, Marohito Murakami
BACKGROUND: Thalamic lesions give rise to a variety of clinical syndromes such as pure sensory stroke, ataxic hemiparesis, and rarely involuntary movements including chorea. Generally and classically, lacunar infarction in the subthalamic nucleus has been regarded as the lesion mainly responsible for hemi-chorea and hemi-ballismus, on the basis of previous anatomical studies. CASE PRESENTATION: This report describes the case of an 81-year-old man who developed sudden-onset pure hemi-chorea in the right limbs resulting from an acute phase of left thalamic lacunar infarction detected on a diffusion-weighted image (DWI) in an MRI study...
September 2012: Case Reports in Neurology
https://www.readbyqxmd.com/read/22750765/ballismus-as-a-sign-of-transitional-ischemic-attack
#15
Seied Hesam Rahmani, Samad Shams Vahdati, Sajad Ahmadi, Arezou Tajlil
A 70-year-old woman presented to our emergency center with a complaint of jerking and twisting movements in her left upper limb and left ankle with deviation of her mouth toward the left. The movements had lasted two minutes and the deviation resolved spontaneously after 30 minutes. She had a history of similar movements five days earlier. During her stay in the emergency center, she experienced the same movements three times. A CT scan without contrast showed a small lesion in the left putamen. Four vessel color Doppler sonography showed a small atheroma plaque in the proximal part of the left internal carotid artery with stenosis less than ten percent...
January 2013: Annals of Saudi Medicine
https://www.readbyqxmd.com/read/22735241/neurological-symptoms-genotype-phenotype-correlations-and-ethnic-specific-differences-in-bulgarian-patients-with-wilson-disease
#16
Violeta Mihaylova, Teodor Todorov, Hristo Jelev, Iskren Kotsev, Ludmila Angelova, Olga Kosseva, Georgi Georgiev, Ralica Ganeva, Silvia Cherninkova, Ludmila Tankova, Aleksei Savov, Ivailo Tournev
OBJECTIVES: The aim of our study was to characterize the neurological symptoms in Bulgarian patients with Wilson disease (WD), to investigate genotype-phenotype correlations, and to test whether there are differences in phenotype between patients of different ethnic origin. PATIENTS AND METHODS: A total of 126 Bulgarian patients with WD were included in the study. Detailed history, physical and neurological examination, laboratory investigation of copper metabolism, slit-lamp examination, abdominal ultrasound, magnetic resonance imaging/computed tomography of the brain, molecular genetic testing, and statistical analysis were performed...
July 2012: Neurologist
https://www.readbyqxmd.com/read/22729344/hyperosmolar-non-ketotic-hyperglycaemia-an-important-and-reversible-cause-of-acute-bilateral-ballismus
#17
Philip Milburn-McNulty, Benedict D Michael, Henry J Woodford, Andrew Nicolson
An 83-year-old lady with type 2 diabetes mellitus was admitted to hospital with pneumonia. After 3 days of oral amoxicillin she developed ballism-choreiform movements of all four limbs. Her serum glucose and osmolality were raised. She had no factors suggestive of genetic or iatrogenic causes. A CT scan of the brain revealed bilateral putamen hyperintensities. She was started on tetrabenazine and subcutaneous insulin, which led to complete resolution of her symptoms.
2012: BMJ Case Reports
https://www.readbyqxmd.com/read/22383069/ct-and-mri-findings-in-the-basal-ganglia-in-non-ketotic-hyperglycaemia-associated-hemichorea-and-hemi-ballismus-hc-hb
#18
Zahia Zaitout
No abstract text is available yet for this article.
October 2012: Neuroradiology
https://www.readbyqxmd.com/read/22187591/hemichorea-hemiballismus-as-an-initial-manifestation-in-a-moroccan-patient-with-acquired-immunodeficiency-syndrome-and-toxoplasma-infection-a-case-report-and-review-of-the-literature
#19
REVIEW
Samira Rabhi, Kawthar Amrani, Mustapha Maaroufi, Zineb Khammar, Hajar Khibri, Maha Ouazzani, Rhizlane Berrady, Siham Tizniti, Ouafae Messouak, Faouzy Belahsen, Wafaa Bono
Neurologic signs and symptoms may represent the initial presentation of AIDS in 10-30% of patients. Movement disorders may be the result of direct central nervous system infection by human immunodeficiency virus (HIV) or the result of opportunistic infections. We report the case of a 59 years old woman who had hemichorea-hemiballismus subsequently found to be secondary to a cerebral toxoplasmosis infection revealing HIV infection. Movement disorders, headache and nausea were resolved after two weeks of antitoxoplasmic treatment...
2011: Pan African Medical Journal
https://www.readbyqxmd.com/read/21786135/neuronal-discharge-patterns-in-the-globus-pallidus-pars-interna-in-a-patient-with-parkinson-s-disease-and-hemiballismus-secondary-to-subthalamotomy
#20
COMPARATIVE STUDY
Daniel Cerquetti, José Angel Obeso, Marcelo Merello
Alterations in the basal ganglia-thalamocortical "motor" circuit activity, have been proposed to explain many features associated with hypokinetic and hyperkinetic movement disorders. We describe the firing pattern of the globus pallidus pars interna in a Parkinson disease's patient who developed Hemichorea-Ballismus subsequent to ipsilateral subthalamotomy, and compare findings to those from PD patients submitted to pallidotomy while in the OFF-medication state. Single units obtained from extracellular recordings were extracted and mean discharge frequency, interspike interval and coefficient of variation (defined as Tonicity Score) were computed...
September 2011: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
keyword
keyword
167853
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"