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1.
Kathmandu Univ Med J (KUMJ) ; 19(74): 282-284, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34819453

RESUMO

Sydenham's chorea is an uncommon neurological manifestation of rheumatic fever and has many and varied differential diagnosis. It may mimic encephalitis when presents as an isolated feature even when silent cardiac lesions are present. Early diagnosis, treatment and penicillin prophylaxis prevents recurrence and progression of cardiac lesions. Prompt symptomatic relief and alleviation of distress is obtained with therapeutic intervention. A case of rheumatic chorea with silent cardiac valve lesions which mimicked herpes simplex encephalitis with choreoathetosis, in a 13 year old girl is presented along with review of literature.


Assuntos
Coreia , Febre Reumática , Adolescente , Coreia/diagnóstico , Coreia/etiologia , Diagnóstico Precoce , Feminino , Humanos , Febre Reumática/complicações , Febre Reumática/diagnóstico
2.
BMC Neurol ; 21(1): 420, 2021 Oct 29.
Artigo em Inglês | MEDLINE | ID: mdl-34715809

RESUMO

BACKGROUND: Hemichorea is usually caused by contralateral deep structures of brain. It rarely results from acute cortical ischemic stroke and that caused by ipsilateral brain lesions is even rarer. CASE PRESENTATION: A 64-year-old female presented with acute obtuseness and left-sided hemichorea. She had a history of right frontal lobe surgery and radiotherapy due to brain metastasis from lung cancer 8 years ago. MRI revealed acute left frontal lobe infarction in addition to an old right frontal lobe lesion. 18FDG PET-CT showed hypometabolism in the left frontal lobe and hypermetabolism in the right basal ganglia region and central sulcus. The choreatic movement remitted after antipsychotic treatment. CONCLUSION: The mechanism of hemichorea after ipsilateral cortical infarction is poorly understood. We assume both previous contralateral brain lesion and recent ipsilateral ischemic stroke contributed to the strange manifestation in this case.


Assuntos
Coreia , Acidente Vascular Cerebral , Coreia/complicações , Coreia/diagnóstico por imagem , Feminino , Humanos , Infarto , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada
3.
Neurol Sci ; 42(11): 4447-4457, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34471947

RESUMO

BACKGROUND: Huntington's disease (HD) is a neurodegenerative disorder characterized by involuntary movements, cognitive decline, and behavioral changes. The complex constellation of clinical symptoms still makes the therapeutic management challenging. In the new era of functional neurosurgery, deep brain stimulation (DBS) may represent a promising therapeutic approach in selected HD patients. METHODS: Articles describing the effect of DBS in patients affected by HD were selected from Medline and PubMed by the association of text words with MeSH terms as follows: "Deep brain stimulation," "DBS," and "HD," "Huntington's disease," and "Huntington." Details on repeat expansion, age at operation, target of operation, duration of follow-up, stimulation parameters, adverse events, and outcome measures were collected. RESULTS: Twenty eligible studies, assessing 42 patients with HD, were identified. The effect of globus pallidus internus (GPi) DBS on Unified Huntington's Disease Rating Scale (UHDRS) total score revealed in 10 studies an improvement of total score from 5.4 to 34.5%, and in 4 studies, an increase of motor score from 3.8 to 97.8%. Bilateral GPi-DBS was reported to be effective in reducing Chorea subscore in all studies, with a mean percentage reduction from 21.4 to 73.6%. CONCLUSIONS: HD patients with predominant choreic symptoms may be the best candidates for surgery, but the role of other clinical features and of disease progression should be elucidated. For this reason, there is a need for more reliable criteria that may guide the selection of HD patients suitable for DBS. Accordingly, further studies including functional outcomes as primary endpoints are needed.


Assuntos
Coreia , Estimulação Encefálica Profunda , Doença de Huntington , Globo Pálido , Humanos , Doença de Huntington/terapia , Resultado do Tratamento
4.
Pediatr Emerg Care ; 37(11): e719-e725, 2021 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-34469400

RESUMO

OBJECTIVES: Acute movement disorders (AMD) are frequent in neurological and pediatric emergencies. Few studies analyzed AMD in children, none in Tunisia or other African country. The purpose of this study was to describe the peculiarities of AMD in a Tunisian pediatric population with a literature review. METHODS: We conducted a retrospective descriptive study over 8 years including 80 children (sex ratio, 1.05; mean age of onset, 4.8 years) with AMD, followed in tertiary referral Child Neurology Department in North Tunisia. RESULTS: Acute movement disorders were mainly hyperkinetic (n = 67 with dystonia (n = 33; mostly due to inherited metabolic diseases (IMD) in 11; with status epilepticus in 10 children), chorea (n = 14; with Sydenham chorea in 5); myoclonus (n = 14; mostly with opsoclonus-myoclonus syndrome in 10) and tremor (n = 6; of posttraumatic origin in half). Hypokinetic movement disorder (MD) included acute parkinsonism in 5 children of infectious (n = 3), postinfectious (n = 1, malaria) and posttraumatic origin (n = 1). Mixed MD, found in 8 children, were mainly due to IMD in half of them, and to familial lupus in two. Paroxysmal MDs were seen in 2 children, one with multiple sclerosis and one of idiopathic origin. Psychogenic MDs were found in 7 patients mainly of dystonic type. Management of AMD comprised symptomatic treatment according to the phenomenology of the MD and causative treatment depending on its etiology. CONCLUSIONS: Our study illustrated the broad range of AMD in children and the wide spectrum of their etiologies. In our series, we described some exceptional findings and etiologies of AMD in children. These findings may denote a specific profile in of AMD in our country with predominant infectious, postinfectious, and IMD.


Assuntos
Coreia , Transtornos dos Movimentos , Criança , Pré-Escolar , Estudos de Coortes , Humanos , Transtornos dos Movimentos/epidemiologia , Transtornos dos Movimentos/etiologia , Estudos Retrospectivos , Tunísia/epidemiologia
5.
J Stroke Cerebrovasc Dis ; 30(10): 106049, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34418672

RESUMO

In general, involuntary movements after stroke are due to a disturbance in the unilateral cortico-basal ganglia loop and appear contralateral to stroke lesions. Crossed involuntary movements after unilateral stroke are very rare. We observed a case of crossed involuntary movements in the left upper limb and right lower limb after a right thalamic hemorrhage expanded to the right subthalamic nucleus. We considered a possible three-step theory as the basis of crossed choreoathetosis. This case informs our better understanding of the cortico-basal ganglia loop and involuntary movements after stroke.


Assuntos
Atetose/etiologia , Coreia/etiologia , AVC Hemorrágico/complicações , Movimento , Tálamo/irrigação sanguínea , Idoso de 80 Anos ou mais , Atetose/diagnóstico , Atetose/fisiopatologia , Coreia/diagnóstico , Coreia/fisiopatologia , AVC Hemorrágico/diagnóstico por imagem , Humanos , Masculino
6.
Neurol Sci ; 42(11): 4751-4754, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34279792

RESUMO

INTRODUCTION: Paroxysmal exercise-induced dyskinesia (PED) is characterized by repeated episodes of involuntary movement disorders that are typically caused by prolonged walking or running and mostly caused by SLC2A1 gene mutations. Phenotypes vary from focal dystonia, ataxia, tremor, and complex non-kinesigenic movements to other movement disorders in patients with SLC2A1 mutation. Also, SLC2A1 mutations carriers may present with also other phenotypes such as epileptic seizure and migraine. CASE REPORTS: We report five patients with various phenotypic spectrums of PED in a Turkish family. Whole exome sequencing revealed a likely pathogenic synonymous variant p.Ser324Ser (c.972G > A) in the SLC2A1 gene (ENST00000426263.3) and the variant segregated in all affected family members. Also, other than PED, the phenotypical spectrum of affected individuals in this family includes epilepsy, mental retardation, and weakness. CONCLUSIONS: We concluded that family members with the same SLC2A1 gene mutation may show very heterogenous phenotypes. Clinicians should be aware of wide variety of symptoms of the patients with PED. We also emphasized that even if a mutation in the coding sequence does not make an amino acid change, it may cause the disease.


Assuntos
Coreia , Epilepsia , Transtornos dos Movimentos , Transportador de Glucose Tipo 1 , Humanos , Mutação , Fenótipo
7.
J Neural Transm (Vienna) ; 128(8): 1177-1183, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34302221

RESUMO

BACKGROUND: Tics are the hallmark of Tourette syndrome (TS). However, TS patients may have a particular vulnerability to develop other movement disorders (MDs), such as dystonia, chorea, stereotypy, and other hyperkinetic disorders that may be wrongly attributed to tics. MATERIALS AND METHODS: We studied a cohort of 201 patients with motor and phonic tics associated with TS to determine if they have additional, co-existent, MDs. RESULTS: There were 67 (33.3%) patients with comorbid non-tic MDs. Phenomenology-wise, piano-playing movements resembling chorea or myoclonus, were the most common non-tic movement, observed in 11% of cases, followed by stereotypies (8.0%), tremor, dystonia and parkinsonism, 5.0% each. Drug-induced was the most common etiology (6.0%), followed by functional movement disorders (5.0%) and tardive phenomena (5.0%). No clear etiology was identified in most patients. Piano-playing movements, were associated with a younger age at onset (P = 0.004) and younger age at presentation (P < 0.001). Patients with drug-induced movements and tardive phenomena had a lower frequency of craniofacial tics. FMDs, and idiopathic MDS showed no specific associations with TS. Tic severity was not a predictor of any co-existent MD. CONCLUSION: About a third of patients with TS present with comorbid MDs which should be differentiated and distinguished from tics as their etiopathogenesis and treatment may be different.


Assuntos
Coreia , Transtornos dos Movimentos , Transtornos de Tique , Tiques , Síndrome de Tourette , Humanos , Transtornos dos Movimentos/epidemiologia , Transtornos dos Movimentos/etiologia , Transtornos de Tique/complicações , Transtornos de Tique/epidemiologia , Tiques/epidemiologia , Tiques/etiologia , Síndrome de Tourette/complicações , Síndrome de Tourette/epidemiologia
13.
BMJ Case Rep ; 14(5)2021 May 19.
Artigo em Inglês | MEDLINE | ID: mdl-34011638

RESUMO

A functionally independent man in his 20s with a history of intellectual disability and epilepsy and family history of Huntington's disease suffered a severe traumatic brain injury. Postinjury, bilateral chorea rendered him dependent for all activities of daily living. Risperidone provided a significant reduction of chorea, decreasing the overall burden of care. Movement disorders are a common sequela of brain injury. Currently, there are no best treatment guidelines for chorea in patients with brain injury. To the authors' knowledge there have been no case reports describing the effects of brain injury on patients with a primary movement disorder. Risperidone was an effective treatment in this case. Further research is needed to establish guidelines for treatment of movement disorders following brain injury and to better understand the effect of brain injuries on primary movement disorders.


Assuntos
Lesões Encefálicas Traumáticas , Coreia , Doença de Huntington , Atividades Cotidianas , Lesões Encefálicas Traumáticas/complicações , Lesões Encefálicas Traumáticas/tratamento farmacológico , Coreia/tratamento farmacológico , Coreia/etiologia , Humanos , Masculino , Risperidona/uso terapêutico
14.
Neurol India ; 69(2): 272-283, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33904435

RESUMO

Involuntary movements develop after 1-4% of strokes and they have been reported in patients with ischemic and hemorrhagic strokes affecting the basal ganglia, thalamus, and/or their connections. Hemichorea-hemiballism is the most common movement disorder following a stroke in adults while dystonia is most common in children. Tremor, myoclonus, asterixis, stereotypies, and vascular parkinsonism are other movement disorders seen following stroke. Some of them occur immediately after acute stroke, some can develop later, and others may have delayed onset progressive course. Proposed pathophysiological mechanisms include neuronal plasticity, functional diaschisis, and age-related differences in brain metabolism. There are no guidelines regarding the management of post-stroke movement disorders, mainly because of their heterogeneity.


Assuntos
Coreia , Distonia , Transtornos dos Movimentos , Acidente Vascular Cerebral , Adulto , Criança , Humanos , Transtornos dos Movimentos/etiologia , Transtornos dos Movimentos/terapia , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/terapia , Tremor
15.
J Neural Transm (Vienna) ; 128(4): 447-471, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33929620

RESUMO

The paroxysmal dyskinesias are a diverse group of genetic disorders that manifest as episodic movements, with specific triggers, attack frequency, and duration. With recent advances in genetic sequencing, the number of genetic variants associated with paroxysmal dyskinesia has dramatically increased, and it is now evident that there is significant genotype-phenotype overlap, reduced (or incomplete) penetrance, and phenotypic variability. In addition, a variety of genetic conditions can present with paroxysmal dyskinesia as the initial symptom. This review will cover the 34 genes implicated to date and propose a diagnostic workflow featuring judicious use of whole-exome or -genome sequencing. The goal of this review is to provide a common understanding of paroxysmal dyskinesias so basic scientists, geneticists, and clinicians can collaborate effectively to provide diagnoses and treatments for patients.


Assuntos
Coreia , Discinesias , Coreia/diagnóstico , Coreia/genética , Humanos , Sequenciamento Completo do Exoma
16.
Artigo em Inglês | MEDLINE | ID: mdl-33832853

RESUMO

Movement disorders presenting in childhood include tics, dystonia, chorea, tremor, stereotypy, myoclonus, and parkinsonism, each of which can be part of various clinical syndromes with distinct etiologies.  Some of these conditions are benign and require only reassurance; others are bothersome and require treatment, or may be clues that herald underlying pathology.  Answers lie in the inherent characteristics of the movements themselves, together with the clinical context provided in the history obtained by the examiner.  The aim of this review is to present an overview of the categories of involuntary movements, along with examples of common acquired and genetic causes, and an approach to history-taking, examination, and treatment.


Assuntos
Coreia , Distonia , Transtornos dos Movimentos , Tiques , Coreia/diagnóstico , Coreia/etiologia , Coreia/terapia , Humanos , Transtornos dos Movimentos/diagnóstico , Transtornos dos Movimentos/etiologia , Transtornos dos Movimentos/terapia , Tiques/diagnóstico , Tiques/etiologia , Tiques/terapia , Tremor/diagnóstico , Tremor/etiologia , Tremor/terapia
17.
Rinsho Shinkeigaku ; 61(5): 325-328, 2021 May 19.
Artigo em Japonês | MEDLINE | ID: mdl-33867412

RESUMO

A 86-year-old woman with left hemiparesis was admitted to our hospital. When visiting to our hospital, hemichorea appeared on her left extremities in an ambulance. She also had mild disturbance of consciousness, spatial disorientation, and sensory disturbance. Blood biochemical studies revealed mild renal failure. DWI MRI showed hyperintensities in the postcentral gyrus and a posterior part of the insula in the right hemisphere, but no signal changes in FLAIR. No lesions were detected in the basal ganglia. The DWI-FLAIR mismatch suggested acute cerebral infarction, and we performed intravenous thrombolysis therapy. Her neurological symptoms including hemichorea gradually improved, and she was finally discharged on foot. Two conspicuous points of the present patient are the sensory cortical infarction and an association with renal failure. In this patient, the sensory cortical infarction must produce chorea even though sensory cortical lesions rarely caused chorea. The associated renal dysfunction may play some role in the production of chorea. The double-crash of cerebral infarction and metabolic abnormality (renal dysfunction) may cause hemichorea which is rarely seen in patients with cerebral infarction of the sensory cortex and insula with no metabolic abnormalities.


Assuntos
Infarto Cerebral/complicações , Coreia/etiologia , Córtex Somatossensorial/irrigação sanguínea , Doença Aguda , Idoso de 80 Anos ou mais , Coreia/tratamento farmacológico , Confusão/etiologia , Transtornos da Consciência/etiologia , Imagem de Difusão por Ressonância Magnética , Feminino , Humanos , Insuficiência Renal/etiologia , Transtornos das Sensações/etiologia , Córtex Somatossensorial/diagnóstico por imagem , Terapia Trombolítica
18.
Intern Med ; 60(19): 3155-3160, 2021 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-33814503

RESUMO

A 72-year-old man presented with chorea while undergoing treatment for recurrence of nodal peripheral T-cell lymphoma with T follicular helper (TFH) phenotype. An examination by brain N-isopropyl-p-iodoamphetamine (123I-IMP)-single photon emission computed tomography (SPECT) revealed no abnormalities other than a decreased cerebral blood flow (CBF) in the left striatum. After four courses of salvage chemotherapy, his clinical symptoms and asymmetric cerebral perfusion improved, suggesting that the decreased CBF had caused chorea. The significance of brain SPECT has not been fully clarified in patients with chorea-associated malignant lymphoma, warranting further investigations. Brain SPECT is an alternative approach to identify abnormalities in such patients.


Assuntos
Coreia , Linfoma de Células T Periférico , Idoso , Encéfalo , Circulação Cerebrovascular , Coreia/diagnóstico por imagem , Coreia/etiologia , Humanos , Iofetamina , Masculino , Recidiva Local de Neoplasia , Fenótipo , Linfócitos T Auxiliares-Indutores , Tomografia Computadorizada de Emissão de Fóton Único
20.
BMJ Case Rep ; 14(3)2021 Mar 31.
Artigo em Inglês | MEDLINE | ID: mdl-33789861

RESUMO

Argininosuccinate lyase (ASL) deficiency is a rare autosomal recessive urea cycle disorder. The severe neonatal-onset form is characterised by hyperammonaemia in the first days of life and manifests with a variety of severe symptoms. However, an index of suspicion for additional or alternative diagnoses must be maintained when the patient's presentation is out of keeping with expected manifestations and course. We present a case of a neonate with ASL deficiency and concomitant hypotonia, severe respiratory distress, pulmonary hypertension, systemic hypotension and congenital hypothyroidism. The patient was investigated and subsequently diagnosed with brain-lung-thyroid syndrome, caused by a mutation in the NKX2-1 gene.


Assuntos
Acidúria Argininossuccínica , Coreia , Hipotireoidismo Congênito , Acidúria Argininossuccínica/diagnóstico , Acidúria Argininossuccínica/genética , Atetose , Humanos , Recém-Nascido , Síndrome do Desconforto Respiratório do Recém-Nascido
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