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1.
Artigo em Coreano | WPRIM (Pacífico Ocidental) | ID: wprim-786594

RESUMO

Patients with collapsed occlusal support and unilateral chewing show parafunctional mandibular movements, which can be complicated in older patients. Gothic arch tracing and split cast technique are used to confirm the deviation between centric relation and anterior habitual bite in patient who has oral dyskinesia and collapsed occlusion. Temporary denture as occlusal stabilization appliance was provided for stable occlusion and reproducible mandibular movement. Definitive denture was fabricated by lingualized occlusion concept.


Assuntos
Relação Central , Dentaduras , Humanos , Mandíbula , Mastigação , Reabilitação Bucal , Boca , Transtornos dos Movimentos , Próteses e Implantes
2.
Medicina (Ribeiräo Preto) ; 52(2)abr.-jun., 2019.
Artigo em Português | LILACS (Américas) | ID: biblio-1025290

RESUMO

Modelo do estudo: Relato de caso. Importância do problema e comentários: A discinesia paroxística não cinesiogênica é um tipo de discinesia paroxística. É caracterizada por movimentos involuntários unilaterais ou bilaterais, do tipo coreico, distônico, balístico ou misto. É uma desordem rara e o diagnóstico precoce é crucial para seu tratamento e melhoria na qualidade de vida do indivíduo. O presente estudo relata um caso de Discinesia Paroxística Não Cinesiogênica e seus achados clínicos, além de apresentar breve revisão da literatura (AU)


Study type: Case report. Relevance and comments: Paroxysmal non-kinesigenic dyskinesia is a type of paroxysmal dyskinesia. It is characterized by involuntary unilateral or bilateral movements, of the choreic, dystonic, ballistic or mixed type. It is a rare disorder and the early diagnosis is crucial for the treatment and improvement of the individual's quality of life. The present report illustrates a case of paroxysmal non-kinesigenic dyskinesia and clinical findings, as well as a brief review of the literature (AU)


Assuntos
Humanos , Masculino , Pré-Escolar , Cafeína , Diagnóstico Clínico , Coreia , Discinesias , Transtornos dos Movimentos , Anticonvulsivantes
3.
Experimental Neurobiology ; : 504-515, 2019.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-763777

RESUMO

Parkinson’s disease (PD) is one of the late-onset neurodegenerative movement disorder. Major pathological markers of PD include progressive loss of dopaminergic neurons, Lewy body formation, genetic mutations, and environmental factors. Epigenetic regulation of specific gene expression via impaired histone acetylation is associated with neuronal dysfunction in various neurodegenerative diseases. In this study, we hypothesized that histone deacetylase (HDAC) inhibitor, valproic acid (VPA), can improve motor function by enhancing cell survival in PD genetic model mice with LRRK2 R1441G mutation. To address this question, we administered VPA in LRRK2 R1441G transgenic mice to determine whether VPA affects 1) histone acetylation and HDAC expression, 2) dopaminergic neuron survival, 3) inflammatory responses, 4) motor or non-motor symptoms. As results, VPA administration increased histone acetylation level and the number of tyrosine hydroxylase (TH) positive neurons in substantia nigra of LRRK2 R1441G mice. VPA reduced iba-1 positive activated microglia and the mRNA levels of pro-inflammatory marker genes in LRRK2 R1441G mice. In addition, VPA induced the improvement of PD-like motor and non-motor behavior in LRRK2 R1441G mice. These data suggest that the inhibition of HDAC can be further studied as potential future therapeutics for PD.


Assuntos
Acetilação , Animais , Sobrevivência Celular , Neurônios Dopaminérgicos , Epigenômica , Expressão Gênica , Histona Desacetilases , Histonas , Corpos de Lewy , Camundongos , Camundongos Transgênicos , Microglia , Modelos Genéticos , Transtornos dos Movimentos , Doenças Neurodegenerativas , Neurônios , Neuroproteção , RNA Mensageiro , Substância Negra , Tirosina 3-Mono-Oxigenase , Ácido Valproico
4.
Artigo em Coreano | WPRIM (Pacífico Ocidental) | ID: wprim-766798

RESUMO

Tremor is one of the most common movement disorders. The classification of tremor disorders was originally proposed in 1998, but subsequent advances have highlighted the limitations of the original criteria. A task force on tremor was convened by the International Parkinson and Movement Disorders Society to review the previous criteria and to develop a revised classification scheme that will allow a more-comprehensive phenotype, thereby facilitating the discovery of specific etiologies. In this review we provide an overview of how to classify tremor disorders according to the new classification of tremors.


Assuntos
Comitês Consultivos , Classificação , Transtornos dos Movimentos , Fenótipo , Tremor
5.
Artigo em Coreano | WPRIM (Pacífico Ocidental) | ID: wprim-766779

RESUMO

Intracranial hypotension usually arises in the context of known or suspected leak of cerebrospinal fluid (CSF). This leakage leads to a fall in intracranial CSF pressure and CSF volume. The most common clinical manifestation of intracranial hypotension is orthostatic headache. Post-dural puncture headache and CSF fistula headache are classified along with headache attributed to spontaneous intracranial hypotension as headache attributed to low CSF pressure by the International Classification of Headache Disorders. Headache attributed to low CSF pressure is usually but not always orthostatic. The orthostatic features at its onset can become less prominent over time. Other manifestations of intracranial hypotension are nausea, spine pain, neck stiffness, photophobia, hearing abnormalities, tinnitus, dizziness, gait unsteadiness, cognitive and mental status changes, movement disorders and upper extremity radicular symptoms. There are two presumed pathophysiologic mechanisms behind the development of various manifestations of intracranial hypotension. Firstly, CSF loss leads to downward shift of the brain causing traction on the anchoring and supporting structures of the brain. Secondly, CSF loss results in compensatory meningeal venodilation. Headaches presenting acutely after an intervention or trauma that is known to cause CSF leakage are easy to diagnose. However, a high degree of suspicion is required to make the diagnosis of spontaneous intracranial hypotension and understanding various neurological symptoms of intracranial hypotension may help clinicians.


Assuntos
Encéfalo , Líquido Cefalorraquidiano , Vazamento de Líquido Cefalorraquidiano , Classificação , Diagnóstico , Tontura , Fístula , Marcha , Cefaleia , Transtornos da Cefaleia , Audição , Hipotensão Intracraniana , Transtornos dos Movimentos , Náusea , Cervicalgia , Fotofobia , Cefaleia Pós-Punção Dural , Coluna Vertebral , Zumbido , Tração , Extremidade Superior , Derivação Ventriculoperitoneal
6.
Psychiatry Investigation ; : 285-291, 2019.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-760926

RESUMO

OBJECTIVE: Idiopathic Parkinson's disease (IPD) is a chronic progressive neurodegenerative movement disorder characterized by motor and non-motor symptoms that affects patients’ quality of life and caregiver burden. The aim of our study was to assess the caregiver burden (CB) in early and late stages of disease and to search if there was a relationship between quality of life and CB. METHODS: A total of 74 patients who were diagnosed as having IPD by a movement disorder neurologist according to United Kingdom Brain Bank Criteria and their caregivers were randomly selected for participation the study. Staging of PD was performed by the neurologist based on the Hoehn and Yahr (H&Y) Scale. Disease severity was determined using the Unified Parkinson's Disease Rating Scale (UPDRS). CB was evaluated using the Zarit Caregiver Burden Inventory (ZCBI). The Hospital Anxiety and Depression Scale (HADS) and the Beck Depression Inventory (BDI) were used to assess anxiety and depressive symptoms in patients with IPD and their caregivers. The Short-Form Health Survey instrument (SF-36) was used to evaluate quality of life of the patients. The Mini-Mental State Examination (MMSE) was administered to patients to evaluate gross cognitive status. RESULTS: Seventy-four patients (male, 58.1%) were included in the study. The mean age of patients was 66.18±8.5 and the mean duration of disease was 67.23±41.8 months. According to the H&Y scale, the patients were divided into two groups; stage I–II as early stage and stage III–V as late stage. Group 1 (H&Y I–II) consisted of 40 patients, and group 2 (H&Y III–V) comprised 34 patients. The mean duration of disease and UPDRS scores were significantly higher in group 2 (p=0.003, p=0.001, respectively). Significant differences were found in group 2 according to BDI. There were significant differences between group 1 and 2 according to SF-36 subdomains such as general health, emotional role, social functioning, pain, and mental health (p=0.019, p=0.038, p=0.005, p=0.004, p=0.014, respectively). However, there were no significant differences between these two groups concerning CB. CONCLUSION: Although CB was found in 35 (47.3%) caregivers in our study, we found no significant differences between the caregivers of patients with early and late-stage IPD patients. We thought that this might be due to strong family relationships and cultural dynamics in Turkey. Burden was found to be higher in depressive patients’ CGs and CGs who had depressive symptoms. It is important to recognize depressive symptoms earlier to protect the relationship between the CG and the patient because the main providers of care are family members.


Assuntos
Ansiedade , Encéfalo , Cuidadores , Depressão , Relações Familiares , Reino Unido , Inquéritos Epidemiológicos , Humanos , Saúde Mental , Transtornos dos Movimentos , Doença de Parkinson , Qualidade de Vida , Turquia
7.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-765865

RESUMO

Oro-pharyngeal dysphagia is a common symptom in patients with Parkinson's disease (PD) and related disorders, even in their early stage of diseases. Dysphagia in these patients has been underdiagnosed, probably due to poor the self-awareness of the conditions and the underuse of validated tools and objective instruments for assessment. The early detection and intervention of dysphagia are closely related to improving the quality of life and decreasing the mortality rate in these patients. The purpose of this paper is to give an overview of the characteristics of dysphagia, including the epidemiology, pathophysiology, and clinical symptomatology, in patients with PD compared with other parkinsonian disorders and movement disorders. The management of dysphagia and future research directions related to these disorders are also discussed.


Assuntos
Transtornos de Deglutição , Distonia , Epidemiologia , Humanos , Mortalidade , Transtornos dos Movimentos , Doença de Parkinson , Transtornos Parkinsonianos , Qualidade de Vida
8.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-765861

RESUMO

OBJECTIVE: Multiple System Atrophy (MSA) and progressive supranuclear palsy (PSP) are rapidly progressive forms of degenerative Parkinsonism. The difficulties of diagnosing MSA and PSP in their early stages may lead to delayed referral to appropriate specialists and distress to patients, as well as delaying symptomatic treatment and participation in clinical trials. This work aimed to describe the symptoms that patients with MSA and PSP developed and plot their emergence relative to final diagnosis using a median onset in months. METHODS: Forty-seven patients from the United Kingdom with MSA or PSP diagnosed by a movement disorder specialist were interviewed with carers or relatives to establish milestone onset. This was corroborated using clinical notes and letters. RESULTS: In the MSA cohort (n = 23), autonomic symptoms (median 5.5 months before diagnosis) and falls (median 1 month before diagnosis) were the two clinical milestones which occurred before diagnosis. In the PSP cohort (n = 24), falling was the only milestone which occurred before diagnosis (median of 18.5 months). CONCLUSION: This study shows that PSP patients experience falling more than a year and a half an average before receiving a diagnosis and although MSA patients also tended to fall, this was much closer to the time of diagnosis. Further work with larger cohorts may illustrate whether these preliminary findings can be generalised to guide diagnosis and management.


Assuntos
Acidentes por Quedas , Planejamento Antecipado de Cuidados , Cuidadores , Estudos de Coortes , Diagnóstico Tardio , Diagnóstico , Reino Unido , Humanos , Transtornos dos Movimentos , Atrofia de Múltiplos Sistemas , Transtornos Parkinsonianos , Encaminhamento e Consulta , Estudos Retrospectivos , Especialização , Paralisia Supranuclear Progressiva
9.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-765843

RESUMO

Abnormal eye movements are commonly observed in movement disorders. Ocular motility examination should include bedside evaluation and laboratory recording of ocular misalignment, involuntary eye movements, including nystagmus and saccadic intrusions/oscillations, triggered nystagmus, saccades, smooth pursuit (SP), and the vestibulo-ocular reflex. Patients with Parkinson's disease (PD) mostly show hypometric saccades, especially for the self-paced saccades, and impaired SP. Early vertical saccadic palsy is characteristic of progressive supranuclear palsy-Richardson's syndrome. Patients with cortico-basal syndrome typically show a delayed onset of saccades. Downbeat and gaze-evoked nystagmus and hypermetric saccades are characteristic ocular motor findings in ataxic disorders due to cerebellar dysfunction. In this review, we discuss various ocular motor findings in movement disorders, including PD and related disorders, ataxic syndromes, and hyperkinetic movement disorders. Systemic evaluation of the ocular motor functions may provide valuable information for early detection and monitoring of movement disorders, despite an overlap in the abnormal eye movements among different movement disorders.


Assuntos
Ataxia , Doenças Cerebelares , Movimentos Oculares , Humanos , Hipercinese , Transtornos dos Movimentos , Paralisia , Doença de Parkinson , Transtornos Parkinsonianos , Acompanhamento Ocular Uniforme , Reflexo Vestíbulo-Ocular , Movimentos Sacádicos
10.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-765839

RESUMO

OBJECTIVE: Neurological symptoms in hospitalized patients are not rare, and neurological consultation for movement disorders is especially important in evaluating or managing those with various movement disorders. Therefore, we investigated a clinical pattern of in-hospital consultations for various movement disorders in a tertiary care university hospital. METHODS: Over two years, a total of 202 patients (70.7 ± 11.8 years of age) presenting with movement disorders referred to movement disorder specialists were investigated. RESULTS: The main symptoms referred by nonneurologists were tremor (56.9%), parkinsonism (16.8%), and gait disturbance (8.9%). The most frequent diagnostic category was toxic/metabolic-caused movement disorder (T/MCMD) (35%) with regard to medications, followed by Parkinson’s disease (PD) (16%). Regarding the mode of onset, T/MCMD was the leading cause for acute (68%) and subacute onset (46%), while PD was the leading disorder (31%) for chronic onset. CONCLUSION: The current study showed a characteristic pattern of inpatients presenting with movement disorders. Furthermore, our findings highlighted the clinical significance of drug use or metabolic problems for treating this patient population.


Assuntos
Discinesias , Marcha , Humanos , Pacientes Internados , Transtornos dos Movimentos , Transtornos Parkinsonianos , Encaminhamento e Consulta , Especialização , Atenção Terciária à Saúde , Tremor
11.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-765838

RESUMO

OBJECTIVE: To evaluate whether less pulsatile levodopa therapy (LPT) can reduce the development of levodopa-induced dyskinesia (LID). METHODS: This is a retrospective cohort study of patients with Parkinson’s disease at the movement disorders clinic of Medstar Washington Hospital Center. The study was not blinded or randomized. Patients were seen between August 2002 and August 2018. During these years, we treated patients with less pulsatile (6 doses daily) levodopa treatment to reduce LID. Occurrence of LID was recorded. RESULTS: Ninety-five patients with Parkinson’s disease taking levodopa were divided into two groups: 1) patients who were initially managed on LPT or who switched from traditional therapy (TT) (n = 61) (mean disease duration: 7.7 ± 4.8 years, mean levodopa duration: 5.6 ± 4.5 years and mean observation time: 4.3 ± 3.4 years), and 2) patients on TT throughout the observation period or until they developed dyskinesia (n = 34) (mean disease duration: 8.3 ± 3.8 years, mean levodopa duration: 6.2 ± 4.2 years and mean observation time: 4.1 ± 3.4 years). Three of the 61 LPT patients developed dyskinesia during the observation period. One of the patients developed dyskinesia after being switched to pulsatile doses by another doctor. In the other two, dyskinesia was minimal. In contrast to this 4.9% cumulative incidence, dyskinesia occurred in 50% (17/34) of TT patients, an incidence similar to that in published data (p < 0.001). CONCLUSION: Less pulsatile levodopa with 6 daily doses was associated with a low incidence of LID. Further study of this method of treatment is warranted.


Assuntos
Estudos de Coortes , Discinesias , Humanos , Incidência , Levodopa , Métodos , Transtornos dos Movimentos , Doença de Parkinson , Estudos Retrospectivos , Washington
12.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-765836

RESUMO

Deep brain stimulation (DBS) of the zona incerta has shown promising results in the reduction of medically refractory movement disorders. However, evidence supporting its efficacy in movement disorders secondary to hemorrhagic stroke or hemichoreoathetosis is limited. We describe a 48-year-old man who developed progressive hemichoreoathetosis with an arrhythmic, proximal tremor in his right arm following a thalamic hemorrhagic stroke. Pharmacological treatment was carried out with no change in the Abnormal Involuntary Movement Scale (AIMS) score after 4 weeks (14). After six sessions of botulinum toxin treatment, a subtle improvement in the AIMS score (13) was registered, but no clinical improvement was noted. The arrhythmic proximal movements were significantly improved after DBS of the zona incerta with a major decrease in the patient’s AIMS score (8). The response to DBS occurring after the failure of pharmacological and botulinum toxin treatments suggests that zona incerta DBS may be an alternative for postthalamic hemorrhage movement disorders.


Assuntos
Escala de Movimento Involuntário Anormal , Braço , Toxinas Botulínicas , Coreia , Estimulação Encefálica Profunda , Hemorragia , Herpes Zoster , Humanos , Pessoa de Meia-Idade , Transtornos dos Movimentos , Acidente Vascular Cerebral , Tremor , Zona Incerta
13.
Artigo em Coreano | WPRIM (Pacífico Ocidental) | ID: wprim-765419

RESUMO

PURPOSE: This study examined the effects of sagittal spinopelvic alignment on the clinical parameters, motor symptoms, and respiratory function in patients with mild to moderate Parkinson's disease (PD). METHODS: This study was a prospective assessment of treated patients (n=28, Hoehn and Yahr (H&Y) stage 2–3) in a PD center. Twenty-eight subjects (68.5±5.7 yrs) participated in this study. The clinical and demographic parameters, including age, sex, symptoms duration, treatment duration, and H&Y stage, were collected. Kinematic analysis was conducted in the upright standing posture with a motion capture system. A pulmonary function test (PFT) was performed in the sitting position using a spirometer. The motor symptoms were assessed on part III of the movement disorder society sponsored version of the unified Parkinson's disease rating scale (MDS-UPDRS). SPSS 18.0 was used to analyze the collected data. RESULTS: The exceeding 12 degrees group of the lower trunk showed significantly higher on the clinical parameters than the below 12 degrees group. In addition, the exceeding 12 degrees group of the lower trunk showed a significantly lower forced expiratory volume at one second (FEV1) / forced vital capacity (FVC) (%) and 25–75% forced mid-expiratory flow (FEF) (L/s) than in the below group. On the other hand, there was no difference in the upper trunk and the cervical pelvis between the groups. CONCLUSION: These findings suggest that the sagittal balance in the lower trunk is related to the clinical parameters and respiratory function, but not the motor symptoms in patients with mild to moderate PD.


Assuntos
Volume Expiratório Forçado , Mãos , Humanos , Transtornos dos Movimentos , Doença de Parkinson , Pelve , Postura , Estudos Prospectivos , Testes de Função Respiratória , Capacidade Vital
14.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-764505

RESUMO

KBG syndrome is an autosomal dominant syndrome presenting with macrodontia, distinctive facial features, skeletal anomalies, and neurological problems caused by mutations in the ankyrin repeat domain 11 (ANKRD11) gene. The diagnosis of KBG is difficult in very young infants as the characteristic macrodontia and typical facial features are not obvious. The youngest patient diagnosed to date was almost one year of age. We here describe a 2-month-old Korean boy with distinctive craniofacial features but without any evidence of macrodontia due to his very early age. He also had a congenital megacolon without ganglion cells in the rectum. A de novo deletion of exons 5–9 of the ANKRD11 gene was identified in this patient by exome sequencing and real-time genomic polymerase chain reaction. As ANKRD11 is involved in the development of myenteric plexus, a bowel movement disorder including a congenital megacolon is not surprising in a patient with KBG syndrome and has possibly been overlooked in past cases.


Assuntos
Repetição de Anquirina , Diagnóstico , Exoma , Éxons , Cistos Glanglionares , Doença de Hirschsprung , Humanos , Lactente , Masculino , Transtornos dos Movimentos , Plexo Mientérico , Reação em Cadeia da Polimerase , Reto
15.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-764339

RESUMO

BACKGROUND AND PURPOSE: Conflicting results about vestibular function in progressive supranuclear palsy (PSP) prompted a systematic examination of the semicircular canal function, otolith function, and postural stability. METHODS: Sixteen patients with probable PSP [9 females, age=72±6 years (mean±SD), mean disease duration=3.6 years, and mean PSP Rating Scale score=31] and 17 age-matched controls were examined using the video head impulse test, caloric testing, ocular and cervical vestibular evoked myogenic potentials (o- and cVEMPs), video-oculography, and posturography. RESULTS: There was no evidence of impaired function of the angular vestibulo-ocular reflex (gain=1.0±0.1), and caloric testing also produced normal findings. In terms of otolith function, there was no significant difference between PSP patients and controls in the absolute peakto-peak amplitude of the oVEMP (13.5±7.2 µV and 12.5±5.6 µV, respectively; p=0.8) or the corrected peak-to-peak amplitude of the cVEMP (0.6±0.3 µV and 0.5±0.2 µV, p=0.3). The total root-mean-square body sway was significantly increased in patients with PSP compared to controls (eyes open/head straight/hard platform: 9.3±3.7 m/min and 6.9±2.1 m/min, respectively; p=0.032). As expected, the saccade velocities were significantly lower in PSP patients than in controls: horizontal, 234±92°/sec and 442±66°/sec, respectively; downward, 109±105°/sec and 344±72°/sec; and upward, 121±110°/sec and 348±78°/sec (all p<0.01). CONCLUSIONS: We found no evidence of impairment of either high- or low-frequency semicircular function or otolith organ function in the examined PSP patients. It therefore appears that other causes such as degeneration of supratentorial pathways lead to postural imbalance and falls in patients with PSP.


Assuntos
Acidentes por Quedas , Testes Calóricos , Feminino , Teste do Impulso da Cabeça , Humanos , Transtornos dos Movimentos , Membrana dos Otólitos , Reflexo Vestíbulo-Ocular , Movimentos Sacádicos , Canais Semicirculares , Paralisia Supranuclear Progressiva , Tauopatias , Potenciais Evocados Miogênicos Vestibulares
17.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-739462

RESUMO

Rabbit Syndrome is an uncommon side effect of antipsychotic treatment. Although it is usually associated with typical antipsychotics, it can also be related to atypical antipsychotics. Anticholinergics are the most accepted treatment approach in treating Rabbit Syndrome. Fluvoxamine is a member of selective serotonin reuptake inhibitors and it is a potent agonist of sigma 1 receptors. In this article, we report a Rabbit Syndrome case who has benefited from fluvoxamine, in terms of both depressive disorder and Rabbit Syndrome; and present the data on the effects of sigma 1 agonist fluvoxamine on numerous movement disorders.


Assuntos
Antipsicóticos , Antagonistas Colinérgicos , Transtorno Depressivo , Fluvoxamina , Transtornos dos Movimentos , Receptores sigma , Inibidores de Captação de Serotonina
18.
Yonsei Medical Journal ; : 1209-1215, 2019.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-762062

RESUMO

GLUT1 deficiency is a rare neurometabolic disorder that can be effectively treated with ketogenic diet. However, this condition is underdiagnosed due to its nonspecific, overlapping, and evolving symptoms with age. We retrospectively reviewed the clinical course of nine patients diagnosed with GLUT1 deficiency, based on SLC2A1 mutations and/or glucose concentration in cerebrospinal fluid. The patients included eight boys and one girl who initially presented with seizures (44%, 4/9) or delayed development (44%, 4/9) before 2 years of age, except for one patient who presented with apnea as a neonate. Over the clinical course, all of the children developed seizures of the mixed type, including absence seizures and generalized tonic–clonic seizures. About half (56%, 5/9) showed movement disorders such as ataxia, dystonia, or dyskinesia. We observed an evolution of phenotype over time, although this was not uniform across all patients. Only one child had microcephaly. In five patients, ketogenic diet was effective in reducing seizures and movement symptoms, and the patients exhibited subjective improvement in cognitive function. Diagnosing GLUT1 deficiency can be challenging due to the phenotypic variability and evolution. A high index of clinical suspicion in pediatric and even older patients with epilepsy or movement disorders is key to the early diagnosis and treatment, which can improve the patient's quality of life.


Assuntos
Apneia , Ataxia , Líquido Cefalorraquidiano , Criança , Vestuário , Cognição , Discinesias , Distonia , Diagnóstico Precoce , Epilepsia , Epilepsia Tipo Ausência , Feminino , Glucose , Humanos , Recém-Nascido , Dieta Cetogênica , Microcefalia , Transtornos dos Movimentos , Fenótipo , Qualidade de Vida , Estudos Retrospectivos , Convulsões
19.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-764168

RESUMO

Hyperglycemia-induced hemichorea (HGHC) is a rare but characteristic hyperkinetic movement disorder involving limbs on one side of the body. In a 75-year-old woman with a left-sided HGHC, conventional brain MR imaging showed very subtle T1-hyperintensity and unique gadolinium enhancement in the basal ganglia contralateral to movements. Multi-parametric MRI was acquired using pulse sequence with quantification of relaxation times and proton density by multi-echo acquisition. Myelin map was reconstructed based on new tissue classification modeling. In this case report of multi-parametric MRI, quantitative measurement of myelin change related to HGHC in brain structures and its possible explanations are presented. This is the first study to demonstrate myelin loss related to hyperglycemic insult in multi-parametric quantitative MR imaging.


Assuntos
Idoso , Gânglios da Base , Encéfalo , Classificação , Extremidades , Feminino , Gadolínio , Humanos , Hiperglicemia , Hipercinese , Imagem por Ressonância Magnética , Transtornos dos Movimentos , Bainha de Mielina , Prótons , Relaxamento
20.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-760226

RESUMO

PURPOSE: The major side effects of treatment with oxcarbazepine (OXC) are skin rash and hyponatremia. Hematologic side effects are reported rarely. The aim of this study was to investigate the rate and types of the hematologic side effects of OXC. METHODS: The medical records of 184 patients diagnosed with epilepsy or movement disorder and on OXC monotherapy, at the Department of Pediatrics of Inje University Sanggye Paik Hospital from July 2001 to July 2018, were retrospectively reviewed. RESULTS: Of the 184 patients, 10 (5.4%) developed leukopenia in addition to pancytopenia and 2 (1.0%) developed pancytopenia. Leukopenia developed in 11 days to 14 years after OXC administration and was more frequent in males than in females (male vs. female, 9 vs. 1; Fisher exact test, P0.05, t-test). CONCLUSION: OXC-induced leukopenia is not rare and may result in pancytopenia. Patients being treated with OXC should be regularly monitored for abnormal complete blood count profiles.


Assuntos
Contagem de Células Sanguíneas , Epilepsia , Exantema , Feminino , Humanos , Hiponatremia , Leucopenia , Perda de Seguimento , Masculino , Registros Médicos , Transtornos dos Movimentos , Pancitopenia , Pediatria , Estudos Retrospectivos
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