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1.
Medicine (Baltimore) ; 99(12): e19650, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32195974

RESUMO

RATIONALE: Mutations of the NKX2-1 gene are associated with brain-lung-thyroid syndrome, which is characterized by benign hereditary chorea, hypothyroidism, and pulmonary disease with variable presentation. Surfactant protein C (SFTPC) gene mutations result in chronic interstitial lung disease in adults or severe neonatal respiratory distress syndrome. PATIENT CONCERNS: Recurrent hypoxemia was observed shortly after birth in a baby at a gestational age of 40 weeks and birth weight of 3150 g. The need for respiratory support gradually increased. He had hypothyroidism and experienced feeding difficulties and irritability. DIAGNOSIS: Genetic examination of the peripheral blood revealed combined mutations of the NKX2-1 and SFTPC genes. INTERVENTIONS: The patient was administered respiratory support, antibiotics, low-dose dexamethasone, supplementary thyroxine, venous nutrition, and other supportive measures. OUTCOMES: The patient's guardian stopped treatment 3 months after commencement of treatment, due to the seriousness of his condition and the patient died. LESSONS: Combined mutations of NKX2-1 and SFTPC genes are very rare. Thus, idiopathic interstitial pneumonia with hypothyroidism and neurological disorders require special attention.


Assuntos
Atetose/genética , Coreia/genética , Hipotireoidismo Congênito/genética , Proteína C/metabolismo , Surfactantes Pulmonares/metabolismo , Síndrome do Desconforto Respiratório do Recém-Nascido/genética , Fator Nuclear 1 de Tireoide/genética , Atetose/sangue , Atetose/diagnóstico , Atetose/terapia , Coreia/sangue , Coreia/diagnóstico , Coreia/terapia , Hipotireoidismo Congênito/sangue , Hipotireoidismo Congênito/diagnóstico , Hipotireoidismo Congênito/terapia , Evolução Fatal , Transtornos da Alimentação e da Ingestão de Alimentos/diagnóstico , Transtornos da Alimentação e da Ingestão de Alimentos/etiologia , Humanos , Hipotireoidismo/diagnóstico , Hipotireoidismo/etiologia , Hipóxia/diagnóstico , Hipóxia/etiologia , Recém-Nascido , Cariotipagem , Doenças Pulmonares Intersticiais/diagnóstico , Doenças Pulmonares Intersticiais/etiologia , Masculino , Mutação , Cuidados Paliativos/métodos , Recidiva , Síndrome do Desconforto Respiratório do Recém-Nascido/sangue , Síndrome do Desconforto Respiratório do Recém-Nascido/diagnóstico , Síndrome do Desconforto Respiratório do Recém-Nascido/etiologia , Síndrome do Desconforto Respiratório do Recém-Nascido/terapia
3.
Am J Emerg Med ; 37(11): 2118.e5-2118.e7, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31474378

RESUMO

Isolated motor disturbances in the paediatric population are uncommon presentations to the emergency department. Choreiform movements have a broad differential diagnosis and may present insidiously with progressive worsening of asymmetric clumsiness, hypotonia and dysarthria. The incidence of Sydenham's chorea (SC) caused by acute rheumatic fever (ARF) is very rare in developed countries. We report a previously healthy, vaccinated 9-year old male who presented to our ED with intermittent and progressive right sided clumsiness for four weeks. Physical examination findings showed dysdiadokinesis and dysmetric movements of the right side, which varied in intensity and were less pronounced on serial re-examination during the same ED visit. Basic bloodwork, MRI and MRA/V showed no abnormalities, and the patient was discharged home with urgent neurology follow-up. He re-presented to our ED four days later with worsening gait and inability to hold a pencil at school. He was subsequently diagnosed with chorea by the neurology team. The cause of chorea was later determined to be SC, and the patient's throat swab came back positive for group A-beta hemolytic strep (GAS) infection. We explore current literature regarding the various presentations of ARF, differential considerations in acute chorea, and diagnostic studies needed to determine the etiology of acute chorea. With the low incidence of chorea in developed nations, this diagnosis can be easily overlooked. We highlight the importance of this diagnosis, as well as primary and secondary treatment in ARF.


Assuntos
Coreia/microbiologia , Febre Reumática/diagnóstico , Criança , Coreia/diagnóstico , Humanos , Masculino , Febre Reumática/complicações
5.
J Stroke Cerebrovasc Dis ; 28(10): 104287, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31351828

RESUMO

BACKGROUND: Movement disorders including hemichorea-hemiballism as the initial presentation of an acute ischemic stroke are uncommon. Structures outside of the deep subcortical areas such as the subthalamic nucleus or basal ganglia are rarely involved. CASE REPORT: We report a case of a 72-year-old man with vascular risk factors who presented with acute onset right-sided hemichorea-hemiballism. Metabolic-, infectious-, and toxic-related conditions were ruled out, his EEG was without epileptiform changes. An MRI confirmed an acute ischemic stroke in the parieto-occipital region without any subcortical structures involved. Atrial Fibrillation was later discovered during his hospitalization and was treated appropriately. CONCLUSIONS: Although rare, strokes outside of the subthalamic nucleus can result in hemichorea-hemiballism.


Assuntos
Fibrilação Atrial/complicações , Infarto Cerebral/etiologia , Coreia/etiologia , Discinesias/etiologia , Idoso , Fibrilação Atrial/diagnóstico , Infarto Cerebral/diagnóstico por imagem , Infarto Cerebral/fisiopatologia , Coreia/diagnóstico , Coreia/fisiopatologia , Discinesias/diagnóstico , Discinesias/fisiopatologia , Humanos , Masculino
6.
Medicine (Baltimore) ; 98(28): e16255, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31305406

RESUMO

RATIONALE: Hemichorea-hemiballism, a rare manifestation of non-ketotic hyperglycemia, characterized by involuntary arrhythmic motions involving one side of the body, results from focal lesions in the contralateral caudate nucleus and putamen. Hyperkinetic disorders can be complications of uncontrolled diabetes mellitus and should not be ignored. PATIENT CONCERNS: We present the case of a 39-year-old woman who presented to the emergency department with a 3-day history of left-sided hemichorea-hemiballism. She had type 2 diabetes mellitus with poor control and maintenance of regular hemodialysis. DIAGNOSES: The patient was diagnosed as hyperglycemia, normal ketone body and hemichorea-hemiballism based on laboratory examination, computed tomography (CT) scan, and brain magnetic resonance image (MRI). INTERVENTIONS: Intensive glycemic control via insulin injection was prescribed for correction of hyperglycemia. OUTCOMES: The unilateral involuntary movements subsided progressively over four weeks. The patient's hemichorea had completely resolved at the three-month follow-up. LESSONS: This unusual clinical presentation is often accompanied by severe hyperglycemia. Appropriate blood glycemic control is important. If physicians recognize and provide early treatment for this disease, it is usually treatable and has a good prognosis.


Assuntos
Coreia/complicações , Diabetes Mellitus Tipo 2/complicações , Discinesias/complicações , Hiperglicemia/complicações , Adulto , Coreia/diagnóstico , Coreia/tratamento farmacológico , Coreia/fisiopatologia , Diabetes Mellitus Tipo 2/tratamento farmacológico , Diabetes Mellitus Tipo 2/fisiopatologia , Diagnóstico Diferencial , Discinesias/diagnóstico , Discinesias/tratamento farmacológico , Discinesias/fisiopatologia , Feminino , Humanos , Hiperglicemia/diagnóstico , Hiperglicemia/tratamento farmacológico , Hiperglicemia/fisiopatologia
7.
J Emerg Med ; 56(6): e119-e121, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31003820

RESUMO

BACKGROUND: Sydenham's chorea is the most common acquired movement disorder of adolescence. This clinical manifestation of acute rheumatic fever has a clear and documented relationship with Group A streptococcal infections. The symptoms are involuntary choreiform movements that can affect the face and all extremities. The pathophysiology remains unclear. CASE REPORT: A 12-year-old female was brought to the emergency department with a 2-week history of involuntary muscle spasms of her right arm and leg. Her parents reported intermittent slurred speech and difficulty grasping utensils. Physical examination revealed an awake, alert, age-appropriate female with normal cranial nerves. Patient was found to have choreoathetoid movements on the right extremities with dystonia of right leg with ambulation. Neurology consultation, computed tomography of the head, and magnetic resonance imaging of the brain did not show any acute pathology. Echocardiogram did show mild tricuspid regurgitation, suggestive of rheumatic fever. Anti-streptolysin O titer was markedly elevated, along with DNAse-B antibodies. The patient had marked improvement of movement disorder at just over 1 week later. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Sydenham's chorea is a rare but important movement disorder often related to Group A streptococcus and rheumatic fever. The incidence of rheumatic fever has been decreasing in North America but continues to be much more prevalent in developing countries as well as immigrant populations. This diagnosis is rare and can occasionally be misdiagnosed as a "fidgety" child or as a psychiatric manifestation. Sydenham's chorea is important to diagnose because acute treatment and prophylactic antibiotics can help improve symptoms and minimize cardiac damage.


Assuntos
Coreia/diagnóstico , Infecções Estreptocócicas/complicações , Criança , Coreia/fisiopatologia , Humanos , Masculino , Febre Reumática/etiologia , Febre Reumática/fisiopatologia , Espasmo/etiologia , Distúrbios da Fala/etiologia , Infecções Estreptocócicas/fisiopatologia
9.
J Med Case Rep ; 13(1): 63, 2019 Mar 06.
Artigo em Inglês | MEDLINE | ID: mdl-30837005

RESUMO

BACKGROUND: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes, the most common maternally inherited mitochondrial disease, can present with a wide range of neurological manifestations including both central and peripheral nervous system involvement. The most frequent genetic mutation reported in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome is A3243G in MT-TL1 gene. Stroke-like episodes, dementia, epilepsy, lactic acidemia, myopathy, recurrent headaches, hearing impairment, diabetes, and short stature constitute the known presentations in this syndrome. Among the abnormal involuntary movements in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome, myoclonus is the commonest. Other movement disorders, including chorea, are rarely reported in this disorder. CASE PRESENTATION: A 14-year-old South Asian boy from rural Bengal (India), born of a second degree consanguineous marriage, with normal birth and development history, presented with abnormal brief jerky movements involving his trunk and limbs, with recurrent falls for 10 months. We present here a case of heteroplasmic mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome with A3251G mutation, in which the clinical picture was dominated by a host of involuntary abnormal movements including chorea-ballism, myoclonus, and oromandibular dystonia in a backdrop of cognitive decline, seizure, and stroke-like episode. A final diagnosis was established by muscle biopsy and genetic study. Haloperidol was administered to control the involuntary movements along with introduction of co-enzyme Q, besides symptomatic management for his focal seizures. Six months into follow-up his seizures and abnormal movements were controlled significantly with slight improvement of cognitive abilities. CONCLUSION: The dominance of hyperkinetic movements in the clinical scenario and the finding of a point mutation A3251G in MT-TL1 gene make this a rare presentation.


Assuntos
Antidiscinéticos/uso terapêutico , Coreia/diagnóstico , DNA Mitocondrial/genética , Haloperidol/uso terapêutico , Síndrome MELAS/diagnóstico , Mutação Puntual/genética , Adolescente , Coreia/genética , Coreia/fisiopatologia , Testes Genéticos , Humanos , Síndrome MELAS/tratamento farmacológico , Síndrome MELAS/genética , Síndrome MELAS/fisiopatologia , Masculino , Micronutrientes/uso terapêutico , Resultado do Tratamento , Ubiquinona/uso terapêutico
10.
Dtsch Med Wochenschr ; 144(3): 203-206, 2019 02.
Artigo em Alemão | MEDLINE | ID: mdl-30703842

RESUMO

INTRODUCTION: A non-ketotic hyperglycaemia may cause an affection of basalganglia and, in the following, lead to a hemiballism-hemichorea movement-disorder. HISTORY: A 68-year-old male patient was admitted at our ward with a subacute and painless hemichorea-hemiballism movement-disorder. FINDINGS AND DIAGNOSIS: Due to elevated levels of glycated haemoglobin, negative ketone bodies in the urine and characteristic changes of the striatum in MR-imaging the diagnosis of a non-ketotic hyperglycemia induced hemichorea-hemiballism was made. THERAPY AND COURSE: An antidiabetic treatment was applied using Metformin, Insulin glargin and Sitagliptin as well as a symptomatic treatment with Risperidon 3 mg. In the following, blood sugar levels normalized and a beginning regression of symptoms was observed. CONCLUSIONS: The exact pathophysiology of this phenomenon is still not fully understood and will need to be investigated. Nevertheless, this disease should always be taken into consideration if the typical clinical presentation as well as matching laboratory tests and imaging features are found.


Assuntos
Coreia , Discinesias , Hiperglicemia , Idoso , Coreia/diagnóstico , Coreia/etiologia , Discinesias/diagnóstico , Discinesias/etiologia , Humanos , Hiperglicemia/complicações , Hiperglicemia/tratamento farmacológico , Hipoglicemiantes/uso terapêutico , Masculino , Metformina/uso terapêutico
12.
J Neurol Neurosurg Psychiatry ; 90(2): 227-234, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30242089

RESUMO

Paroxysmal dyskinesias (PxD) refer to a rare group of clinically and genetically heterogeneous disorders presenting with recurrent attacks of abnormal movements, typically dystonia, chorea or a combination thereof, without loss of consciousness. Classically, PxD have been categorised according to their triggers and duration of the attacks, but increasing evidence suggests that there is a certain degree of clinical and genetic overlap and challenges the concept that one phenotype is attributable to one single aetiology. Here we review the increasing spectrum of genetic conditions, as well as of other non-genetic disorders, that might present with PxD, provide criteria for case definition and propose a diagnostic workup to reach a definitive diagnosis, on which treatment is heavily dependent.


Assuntos
Coreia/diagnóstico , Coreia/etiologia , Humanos
14.
Curr Drug Saf ; 14(1): 51-52, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30381086

RESUMO

BACKGROUND: Dyskinetic neurological diseases are common presentations of adverse reaction to many therapeutic agents. Phenytoin, a widely used age-old antiepileptic drug has been reported to cause dyskinesias, a rare Adverse Drug Reaction (ADR) in adults with toxic therapeutic serum level. When the drug is used in combination with other drugs which augments free drug level of phenytoin or in patients of organic brain lesion, this side effect is very occasionally reported with even normal therapeutic drug level. CLINICAL CASE: We report a case of young male presented with chorea after two months of starting phenytoin for primary generalised epilepsy with normal therapeutic serum drug level. After excluding other differentials, drug-induced chorea was the final diagnosis. Despite phenytoin level was in therapeutic range, we have a trial of stopping Phenytoin with complete disappearance of chorea in 3 days. On reintroduction of phenytoin in the same dose, there was the reappearance of chorea in onemonth re-emphasising the diagnosis as "phenytoin-induced chorea". CONCLUSION: If any patient on phenytoin develops any new neurological feature including dyskinesias, it should be considered as an ADR despite drug serum level within the normal therapeutic range.


Assuntos
Anticonvulsivantes/efeitos adversos , Coreia/induzido quimicamente , Coreia/diagnóstico , Fenitoína/efeitos adversos , Epilepsia Generalizada/diagnóstico , Epilepsia Generalizada/tratamento farmacológico , Humanos , Masculino , Adulto Jovem
16.
Medicine (Baltimore) ; 97(43): e12889, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30412085

RESUMO

RATIONALE: Chorea is a movement disorder characterized by randomly appearing involuntary movements of the face, neck, limbs, or trunk. Hemichorea is unilateral, involving one side of the body. Hemichorea is commonly caused by non-ketotic hyperglycemia and/or cerebrovascular injury to the contralateral basal ganglia. PATIENT CONCERNS: Here, we report the case of a patient diagnosed with hemichorea who had diabetes, cavernous angioma, and a small intracranial errhysis. Routine testing showed the patient's blood glucose level was slightly higher than the normal range. INTERVENTIONS: The errhysis was too small to be treated. DIAGNOSES: Brain magnetic resonance imaging showed a cavernous angioma with a small errhysis in the right putamen. OUTCOMES: Hemichorea was completely resolved after 4 months. LESSONS: If diabetes is well controlled and imaging indicates brain lesions suggestive of a recent stroke, a diagnosis of post-stroke hemichorea should be considered.


Assuntos
Coreia/diagnóstico , Hemangioma Cavernoso/diagnóstico por imagem , Hiperglicemia/complicações , Putamen/diagnóstico por imagem , Adulto , Coreia/etiologia , Diabetes Mellitus/diagnóstico , Diagnóstico Diferencial , Hemangioma Cavernoso/complicações , Humanos , Imagem por Ressonância Magnética , Masculino , Putamen/irrigação sanguínea , Putamen/patologia , Acidente Vascular Cerebral/complicações
18.
JAMA Neurol ; 75(10): 1234-1245, 2018 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-29913018

RESUMO

Importance: Movement disorders are characterized by a marked genotypic and phenotypic heterogeneity, complicating diagnostic work in clinical practice and molecular diagnosis. Objective: To develop and evaluate a targeted sequencing approach using a customized panel of genes involved in movement disorders. Design, Setting and Participants: We selected 127 genes associated with movement disorders to create a customized enrichment in solution capture array. Targeted high-coverage sequencing was applied to DNA samples taken from 378 eligible patients at 1 Luxembourgian, 1 Algerian, and 25 French tertiary movement disorder centers between September 2014 and July 2016. Patients were suspected of having inherited movement disorders because of early onset, family history, and/or complex phenotypes. They were divided in 5 main movement disorder groups: parkinsonism, dystonia, chorea, paroxysmal movement disorder, and myoclonus. To compare approaches, 23 additional patients suspected of having inherited cerebellar ataxia were included, on whom whole-exome sequencing (WES) was done. Data analysis occurred from November 2015 to October 2016. Main Outcomes and Measures: Percentages of individuals with positive diagnosis, variants of unknown significance, and negative cases; mutational frequencies and clinical phenotyping of genes associated with movement disorders. Results: Of the 378 patients (of whom 208 were male [55.0%]), and with a median (range) age at disease onset of 31 (0-84) years, probable pathogenic variants were identified in 83 cases (22.0%): 46 patients with parkinsonism (55% of 83 patients), 21 patients (25.3%) with dystonia, 7 patients (8.4%) with chorea, 7 patients (8.4%) with paroxysmal movement disorders, and 2 patients (2.4%) with myoclonus as the predominant phenotype. Some genes were mutated in several cases in the cohort. Patients with pathogenic variants were significantly younger (median age, 27 years; interquartile range [IQR], 5-36 years]) than the patients without diagnosis (median age, 35 years; IQR, 15-46 years; P = .04). Diagnostic yield was significantly lower in patients with dystonia (21 of 135; 15.6%; P = .03) than in the overall cohort. Unexpected genotype-phenotype correlations in patients with pathogenic variants deviating from the classic phenotype were highlighted, and 49 novel probable pathogenic variants were identified. The WES analysis of the cohort of 23 patients with cerebellar ataxia led to an overall diagnostic yield of 26%, similar to panel analysis but at a cost 6 to 7 times greater. Conclusions and Relevance: High-coverage sequencing panel for the delineation of genes associated with movement disorders was efficient and provided a cost-effective diagnostic alternative to whole-exome and whole-genome sequencing.


Assuntos
Sequenciamento de Nucleotídeos em Larga Escala/métodos , Transtornos dos Movimentos/diagnóstico , Transtornos dos Movimentos/genética , Análise de Sequência de DNA/métodos , Sequenciamento Completo do Exoma/métodos , Adolescente , Adulto , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Ataxia Cerebelar/genética , Criança , Pré-Escolar , Coreia/diagnóstico , Coreia/genética , Distúrbios Distônicos/genética , Feminino , Genótipo , Sequenciamento de Nucleotídeos em Larga Escala/economia , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Mioclonia/diagnóstico , Mioclonia/genética , Transtornos Parkinsonianos/genética , Fenótipo , Estudos Prospectivos , Análise de Sequência de DNA/economia , Sequenciamento Completo do Exoma/economia , Adulto Jovem
19.
BMJ Case Rep ; 20182018 Jun 19.
Artigo em Inglês | MEDLINE | ID: mdl-29925556

RESUMO

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. The patient's symptoms improved with a combination of amantadine, clonazepam and tetrabenazine. Several hypotheses involving gemistocytes, calcification and petechial haemorrhage were proposed in support of imaging abnormalities in the striatum. Dopamine-depleting agents and neuroleptics are used in the treatment of chorea. It is recommended to try a dose of tetrabenazine in patients with NKH-induced HC-HB if no improvement is appreciated with initial treatment of glycaemic control.


Assuntos
Coreia/etiologia , Hiperglicemia/complicações , Idoso , Coreia/diagnóstico , Creatina Quinase/sangue , Diabetes Mellitus Tipo 2/sangue , Diabetes Mellitus Tipo 2/complicações , Humanos , Hiperglicemia/sangue , Imagem por Ressonância Magnética , Masculino , Putamen/diagnóstico por imagem
20.
Neuropediatrics ; 49(4): 246-255, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-29801190

RESUMO

OBJECTIVE: This article elucidates a clinical and genetic approach to pediatric early-onset chorea in patients with normal neuroimaging. METHODS: We retrospectively studied patients with onset hyperkinetic movement disorders. Only children with onset of chorea in the first 3 years of life were included, those with an abnormal magnetic resonance imaging (MRI) or electroencephalogram (EEG) were excluded.We studied the movement disorder phenotype by clinical examination and by interpretation of videos and compared our data to the literature. RESULTS: Four patients, aged 2 to 13 years, were diagnosed. Abnormal involuntary movements appeared between the ages of 6 months to 3 years in association with developmental delay. One patient has a close relative with NKX2.1-related chorea. One patient is from Iraqi-Jewish origin. Facial twitches and nocturnal dyskinetic attacks were observed in one.The unique clinical presentation and family history enabled genetic diagnosis by molecular analysis of a specific mutation in two (NKX2.1, OPA3) and Sanger sequencing of a target gene in one (ADCY5). One patient was diagnosed by whole-exome sequencing (WES) (GNAO1). CONCLUSION: By carefully recording the phenotype and genetic background, a single gene can be suspected in some cases. In the rest, we suggest multigene panels or WES study.


Assuntos
Coreia/diagnóstico , Coreia/genética , Adolescente , Idade de Início , Criança , Pré-Escolar , Coreia/epidemiologia , Coreia/etiologia , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Mutação
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