RESUMEN
Las discinesias paroxísticas son un grupo de entidades consistentes en paroxismos de diversos movimientos anormales de corta duración asociados o no a factores precipitantes. Suele afectar a sujetos jóvenes y la prevalencia es desconocida. La fisiopatología es incierta; se han identificado ciertas mutaciones que expliquen su origen. Clínicamente se pueden manifestar como ataques paroxísticos de movimientos de tipo coreoatetósico, distónicos o balísticos de corta duración y con preservación de la conciencia. Los estudios electrofisiológicos y de imagen suelen ser normales. Este grupo de trastornos del movimiento hacen parte del diagnóstico diferencial de las crisis epilépticas. El pronóstico suele ser bueno y el tratamiento es sintomático con anticonvulsivantes. Se presentarán tres casos de dos tipos de trastornos paroxísticos del movimiento y revisión de la literatura.
Paroxysmal dyskinesias are a group of entities consisting of paroxysms of diverse abnormal movements of short duration, associated or not with precipitating factors. It usually affects young subjects and its prevalence is unknown. The pathophysiology is uncertain; some mutations have been identified that explain their origin. Clinically, they can manifest as paroxysmal attacks of choreoathetosis, dystonic or ballistic movements of short duration and with preservation of consciousness. Electrophysiological and imaging studies are usually normal. This group of movement disorders are part of the differential diagnosis of epileptic seizures. Prognosis is usually good and the treatment is symptomatic with anticonvulsants. Three cases of two types of paroxysmal movement disorders and a review of the current literature are presented.
Asunto(s)
Humanos , Masculino , Adolescente , Adulto Joven , Corea/diagnóstico , Corea/tratamiento farmacológico , Carbamazepina/uso terapéutico , Electroencefalografía/métodos , Anticonvulsivantes/uso terapéuticoRESUMEN
Objective To investigate the gene mutations in benign familial infantile epilepsy(BFIE)in Chi-na. Methods Data of all BFIE probands and their family members were collected from Peking University First Hospital and other three hospitals between October 2006 and June 2017. Clinical phenotypes of affected members were analyzed. Genomic DNA was extracted from peripheral blood samples with standard protocol. Mutations in PRRT2 were screened using Sanger sequencing. For families that PRRT2 mutations were not detected by Sanger sequencing,candidate gene mutations were further screened by next - generation sequencing. Results A total of 71 families including 227 affected members were collected. Genetic testing led to the identification of gene mutations in 52 families (52 / 71,73. 2%). Forty - three families had PRRT2 mutations (43 / 71,60. 6%),including 40 families with frameshift mutations(hotspot mutations c. 649_650insC and c. 649delC were detected in 29 families and 6 families,respectively),one family with nonsense mutation,one family with a loss of a stop codon,and one family with a microdeletion of the gene. C. 560_561insT and c. 679C > T were novel PRRT2 mutations. Five families had SCN2A mutations. All SCN2A mutations were missense mutations(c. 668G > A,c. 752T > C,c. 1307T > C,c. 4835C > G,c. 1737C > G). Mutation c. 752T > C, c. 1307T > C,c. 4835C > G,and c. 1737C > G were novel mutations. Three families had KCNQ2 mutations. All KCNQ2 mutations were missense mutations(c. 775G > A,c. 237T > G,c. 1510C > T). Mutation c. 237T > G and c. 1510C > T were novel mutations. One family had a novel GABRA6 mutation c. 523G > T. In 71 BFIE families,16 families had mem-bers who showed paroxysmal kinesigenic dyskinesias(PKD)and subclassified as infantile convulsions with paroxysmal choreoathetosis syndrome(ICCA). Fifteen ICCA families were found having PRRT2 mutations (15 / 16,93. 8%). The remaining ICCA family was not detected with any pathogenic mutation. Conclusion There is high frequency of gene mutations in BFIE families. Mutations in KCNQ2,SCN2A,and PRRT2 are genetic causes of BFIE. PRRT2 is the main gene responsible for BFIE. GABRA6 mutation might be a new cause of BFIE.
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Objective: To evaluate the effectiveness of oral pharmacologic therapy in improving postural control and functionality in patients with DCP, with less than 20 years old, compared with any therapy or placebo. Methods: Randomized clinical trials and quasi-experimental with no restriction in publication date or language were included. The search was conducted in PubMed, EMBASE, The Cochrane Library (CENTRAL), Virtual Health Library (LILACS, SCIELO), ClinicalTrials.gov and Opengrey. The risk of bias was assessed according to the Cochrane Handbook for Interventions Systematic Reviews. Results: 3 cross over studies were included, according to the established criteria. The three drugs that were analyzed were: levodopa, and trihexyphenidyl and tetrabenazine, compared to placebo. No study had significant favorable results for the use of the drug over placebo. Conclusion: At the moment there is no evidence to support the use of oral medication in patients with DCP, based on the small number of high quality studies found, it is necessary to increase research on oral pharmacologic therapy in this group of patients.
Objetivo: Evaluar la efectividad del tratamiento farmacológico oral destinado a mejorar el control postural y la funcionalidad en pacientes con parálisis cerebral disquinética (PCD) menores de 20 años comparado con cualquier terapia o placebo. Métodos: Se incluyeron ensayos clínicos aleatorizados y cuasi experimentales sin restricción de fecha de publicación o lenguaje. La búsqueda se realizó en Pubmed, EMBASE, The Cochrane Library (CENTRAL), Biblioteca Virtual de la Salud (LILACS, SCIELO), ClinicalTrials.gov y Opengrey. El riesgo de sesgo fue evaluado de acuerdo al Manual Cochrane de Revisiones Sistemáticas de Intervenciones. Resultados: Se incluyeron 3 estudios cross-over de acuerdo a los criterios establecidos. Los tres fármacos analizados fueron: levodopa, tetrabenazina y trihexifenidilo, comparados con placebo. Ningún estudio tuvo resultados favorables de manera significativa para el uso del medicamento sobre placebo. Conclusión: Por el momento no existe evidencia que sustente el uso de la medicación oral en los pacientes con PCD en base al escaso número de estudios de alta calidad encontrados, siendo necesario que se aumente la investigación sobre el tratamiento farmacológico oral en este grupo de pacientes.
Asunto(s)
Humanos , Niño , Dopaminérgicos/administración & dosificación , Levodopa/administración & dosificación , Parálisis Cerebral/tratamiento farmacológico , Tetrabenazina/administración & dosificación , Trihexifenidilo/administración & dosificación , Administración Oral , Distonía/tratamiento farmacológico , Equilibrio PosturalRESUMEN
Thyrotoxicosis may present with spectrum of movement disorders. Though tremor is most frequently associated, chorea has also been reported rarely. A rare case of thyrotoxicosis in a young female presenting with choreoathetotic movement is reported here. The choreoathetotic movement in this case was attributed to thyrotoxicosis based on clinical and biochemical criteria after exclusion of other causes.
Asunto(s)
Corea/complicaciones , Corea/epidemiología , Corea/etiología , Corea/terapia , Femenino , Humanos , Tirotoxicosis/complicaciones , Tirotoxicosis/epidemiología , Tirotoxicosis/etiología , Tirotoxicosis/terapia , Adulto JovenRESUMEN
BACKGROUND: This paper synthesizes two unique cases of an adult Filipino patient presenting with involuntary unilateral extremity movements which upon further workup revealed cerebral toxoplasmosis as their primary etiology, further revealing their immunocompromised states. To our best knowledge there is limited available data on cerebral toxoplasmosis in our local setting. RATIONALE AND OBJECTIVES: The Filipino population is not spared from the pervasive global upsurge of AIDS cases as well as HIV-related infections. The aim of this report is to document the clinical features and diagnostics of two patients with cerebral toxoplasmosis presenting with unilateral involuntary extremity movements to heighten the level of awareness of Filipino physicians on the need to further explore possible etiologies of common neurological signs and symptoms as well as document additional cases of HIV-related infection in our country. CASE DESCRIPTION: The first case is a 30 year old male with no comorbidities who presented with fever and sudden onset of choreoathetoid movements of the left extremities. MRI revealed a rim enhancing nodule in the left supraorbital frontal lobe and in the middle cerebral peduncle. The second case is a 40 year old male, known hypertensive, initially diagnosed to have pulmonary tuberculosis, who presented with sudden onset of focal left arm myoclonic jerks. MRI revealed a rim enhancing cortical nodule on the right precentral gyrus. Both lesions were consistent with characteristics of toxoplasmosis. Both patients also showed positive serological titers for toxoplasmosis and had low CD4 T-cell count on flow cytometry. Both patients were treated with high dose trimethoprim-sulfamethoxazole and were further worked up for HIV-related infections. CONCLUSION: Majority of Filipino patients are still not provided with the opportunity to be diagnosed and treated for HIV-related infections, with one reason being the low index of suspicion for such cases. There is still limited amount of data available locally regarding patients presenting with Cerebral Toxoplasmosis, and that common neurological signs and symptoms as presented in this report should provide the much needed enlightenment in a physician's clinical eye to entertain such etiologies.
Asunto(s)
Humanos , Masculino , Adulto , Síndrome de Inmunodeficiencia Adquirida , Linfocitos T CD4-Positivos , Pedúnculo Cerebral , Infecciones por VIH , Mioclonía , Toxoplasmosis Cerebral , Combinación Trimetoprim y Sulfametoxazol , Tuberculosis Pulmonar , CoreaRESUMEN
PURPOSE: Paroxysmal kinesigenic dyskinesia (PKD) is one of the movement disorders in which dyskinesia occurs in a part of the body by a sudden movement after a rest under a tension or a stress. This study was aimed to evaluate the clinical features of children and adolescents with PKD in Korea via analysing the patients who have treated in Department of Pediatrics, Kyungpook National University Hospital. METHODS: A total of seven children with PKD was involved in the study and their medial records were retrospectively evaluated. RESULTS: The mean age of the 7 subjects was 15.7 years (10.0-21.4 years old). The male to female ratio was 6:1. They presented with dystonia with the average duration of 10.5 seconds (3.5-17.5 seconds), which triggered by various sudden movements. No accompanying cormorbidities were noted. Their laboratory findings were unremarkable. Six of the patients, except one who refused treatment with medicine, responded well to medication and remained symptom free. The average time response to medication was 3.4 weeks (0.95-7.81 weeks). They were of treated with either oxcarbazepine (n=4, 14.9+/-5.8 mg/kg/day) or lamotrigine (n=2, 1.5+/-0.9 mg/kg/day). There was no significant difference between two groups in terms of age, response, adverse events, and so on. CONCLUSION: This study showed that clinical features of Korean children with PKD are quite similar to those of other countries. They responded well to the medication. In addition, lamotrigine can be an alternative choice for the treatment.
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Adolescente , Niño , Femenino , Humanos , Masculino , Carbamazepina , Corea , Discinesias , Distonía , Corea (Geográfico) , Trastornos del Movimiento , Pediatría , Estudios Retrospectivos , TriazinasRESUMEN
We report a case of herpes simplex virus (HSV) encephalitis (HSE) in an 11-year-old boy who recovered with acyclovir therapy but developed relapse after 2 weeks. Choreoathetosis was the presenting feature of relapse. Response to antiinflammatory treatment was excellent. To the best of our knowledge, this is the first case of HSE relapse presenting with choreoathetosis reported from India. We describe the patient and review the literature on HSE and HSE relapse.
Asunto(s)
Atetosis/etiología , Niño , Corea/etiología , Encefalitis por Herpes Simple/complicaciones , Humanos , Masculino , Recurrencia , Lóbulo Temporal/patologíaRESUMEN
The clinical characters,diagnosis and differential diagnosis of paroxysmal kinesigenic choreoathetosis (PKC),and efficacy of the anti-epileptic drugs (AEDs) were investigated.Thirty-one patients with PKC were collected,and the clinical characters and change of EEG were analyzed.The average age of the first attack was 16.8 years old and the pinnacle was 10 to 20 years old.There were definite causes for every attack and the sudden movement was the most common one (92%).Time for the whole attack was always less than 1 rain.The attack presented with muscle tension disturbance (83.9%),movement like dancing (16.1%),abnormal movement of mouth and face and other symp-toms (16.2%).The attack tended to be very frequent and 71% patients were beyond once per day.The EEG examination and image scan of primary PKC were normal in most patients.Low dosage of AEDs could control the attack of 50%-77.3% patients.It was concluded that PKC was a common disease of movement disorder.The therapy by AEDs was very effective.PKC should be differentiated from epilepsy and the relationship between PKC and epilepsy needs further research.
RESUMEN
BACKGROUND: To define the pathophysiology of paroxysmal kinesigenic dyskinesia(PKD), we analyzed detailed clin-ical features. METHODS: We studied characteristics of the attack, family history, response to the treatment and clinical courses of 30 patients with PKD. RESULTS: Twenty-six of the 30 patients were men and four were women. Thirteen patients had a family history of PKD. There were no patients who had symptomatic PKD. In three-fourths of our patients, the attacks ameliorated within 10 seconds and two-thirds experienced one to ten attacks per day. They showed dystonia much more frequently than chorea. In all patients,sudden movements of the legs while standing precipitated the attacks. The attack occurred very rarely during driving or swimming. Sudden movements of the arm did not precipi-tate the attacks. CONCLUSIONS: We suggest that neuronal system maintaining standing posture and strong afferent inputs delivering sudden high velocity movements of the legs to the spinal cord are involved in the genesis of PKD.
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Femenino , Humanos , Masculino , Brazo , Corea , Discinesias , Distonía , Pierna , Neuronas , Postura , Médula Espinal , NataciónRESUMEN
CHAP syndorme consists of choreoathetosis, orofacial dyskinesia, affective change, hypotonia, and pseudobulbar signs. CHAP syndrome was firstly des- cribed with onset 1 to 7 days after induced profound hypothermia and complete circulatory arrest for con- genital heart lesion repair. Since then, only a few cases have been reported until now. Case We report a patient who demonstrated all of the elements of the CHAP syndrome in severe cachexic state. Brain SPECT(99mTC-ECD) shows decreased perfusion in left fronto-parieto-temporal lobe. Comments The pathogenesis of CHAP syndrome is obscure. However our case led us to suggest that more essential component pre- disposing to the CHAP syndrome is hypoxia rather than hypothermia. Furthermore, it seems to be related with circulatory insufficiency in extrapyramidal nervous systems.
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Humanos , Hipoxia , Encéfalo , Corazón , Hipotermia , Trastornos del Movimiento , Hipotonía Muscular , Sistema Nervioso , PerfusiónRESUMEN
Central pontine myelinolysis (CPM) and extrapontine myelinolysis (EPM) are recognized complications of hypona-tremia and its overly rapid correction. A 42-year-old woman with uterine cervical cancer had a subacute onset of choreoathetosis on the thirteenth day after a rapid correction of severe hyponatermia. A follow-up brain magnetic reso-nance image (MRI) showed abnormal signal intensity changes in the central pons, putamen, and caudate nucleus. We report an unusual case of central pontine and extrapontine myelinolysis, that presented with choreoathetosis. (J Korean Neurol Assoc 19(4):393~395, 2001)
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Adulto , Femenino , Humanos , Encéfalo , Núcleo Caudado , Estudios de Seguimiento , Mielinólisis Pontino Central , Puente , Putamen , Neoplasias del Cuello UterinoRESUMEN
The paroxysmal kinesigenic chereoathetosis is characterized by choreoathetotic, dystonic movements induced by sudden movements without loss of consciousness, urinary incontinence and clonic movement. These attacks begin in childhood. The effect of anticonvulsants is usually excellent. We report one case of paroxysmal kinesigenic choreoathetosis.
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Anticonvulsivantes , Inconsciencia , Incontinencia UrinariaRESUMEN
Paroxysmal kinesigenic choreoathetosis (PKC) is characterized by short paroxysms of focal or generalized involuntary movement induced by sudden movements, and is a well-known disease in the neurologic literature, but only 4 cases have been reported in Korea. The purpose of the presentation is to clarify the clinical features of PKC in Korea. We clinically analyzed 20 patients with PKC between 1986 and 1994 at Yongdong Severance Hospital, Yonsei Medical Center, with a minimum of a 1 to 2 year follow-up period. There were 14 men and 6 women. The age at onset of the condition ranged from 8 to 17 years (mean, 13.1 years). Six patients (30%) had a family history of the condition and the mode of inheritance was suggestive of an autosomal recessive pattern. The involuntary movements seemed to be dystonic rather than choreoathetonic upon a mild attack, and the paroxysms were precipitated by sudden movements. The attacks occurred on one or both sides, and were often associated with dysarthria, upward gaze and sensory aura. Consciousness was never lost. Their duration were usually 10 to 30 seconds, and never more than two minutes. All laboratory tests including electroencephalographic and neuroimaging studies showed no abnormality. All patients responded well to diphenylhydantoin. PKC is not rare in Korea and has a benign course.