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1.
Article in Portuguese | LILACS | ID: biblio-1353095

ABSTRACT

A Hemiplegia Alternante da Infância é um distúrbio neurológico grave e uma doença rara (1 em cada 100.000 recém-nascidos), caracterizado por ataques repetidos transitórios de hemiplegia episódica ou tetraplegia que podem durar minutos a horas, acompanhados por outros sintomas paroxísticos como anormalidades oculomotoras e autonômicas, distúrbios do movimento como ataxia, comprometimento cognitivo progressivo, convulsões, distonia e coreia. Os tratamentos atuais são amplamente sintomáticos. Neste relato de caso, apresentamos paciente do sexo feminino, 18 anos, na qual aos 10 meses apresentou o primeiro episódio aparente de crise convulsiva com versão ocular. O eletroencefalograma e tomografia computadorizada não revelaram anormalidades e foram administradas diversas medicações como fenobarbital, carbamazepina, valproato de sódio, topiramato, dicloridrato de flunarizina, clonazepam, cipro-heptadina e pizotifeno, todos sem resultado. Devidos aos sintomas extrapiramidais, paciente passou a utilizar biperideno, apresentando não só melhora da distonia, mas também no número de crises hemiplégicas. Aos 13 anos, ela foi diagnosticada com Hemiplegia Alternante da Infância na mutação patogênica missense de novo c.2415C G (p.Asp805Glu) no gene ATP1A3 apresentando boa resposta ao tratamento com cloridrato de biperideno. (AU)


Alternating hemiplegia of childhood is a severe neurological disorder and a rare disease (1 in 100,000 newborns), characterized by repeated transient attacks of episodic hemiplegia or tetraplegia that can last minutes to hours, accompanied by other paroxysmal symptoms such as oculomotor and autonomic abnormalities, movement disorders such as ataxia, progressive cognitive impairment, seizures, dystonia, and chorea. Current treatments are largely symptomatic. In this case report, we present a female patient, 18 years old, who presented the first apparent episode of seizure with ocular version at ten months of age. The electroencephalogram and CT scan revealed no abnormalities, and several medications such as phenobarbital, carbamazepine, sodium valproate, topiramate, flunarizine dihydrochloride, clonazepam, cyproheptadine and pizotifen were administered, all without result. Due to the extrapyramidal symptoms, the patient started using biperidene, showing improvement in dystonia and the number of hemiplegic seizures. At age 13, she was diagnosed with Alternating hemiplegia of Childhood in the pathogenic missense de novo mutation c.2415C>G (p.Asp805Glu) in the ATP1A3 gene showing a good response to treatment with biperidene hydrochloride. (AU)


Subject(s)
Humans , Female , Adult , Ataxia , Seizures , Biperiden , Rare Diseases , Cognitive Dysfunction , Hemiplegia
2.
Rev. cuba. pediatr ; 93(1): e1392, ene.-mar. 2021. fig
Article in Spanish | LILACS, CUMED | ID: biblio-1251757

ABSTRACT

Introducción: Cuando se piensa en estudiar el cerebelo es posible que lo primero que viene a la mente sean las siguientes preguntas: ¿cuáles son sus enfermedades?, ¿cómo se expresan clínicamente? y quizás, ¿cómo es su estructura y cuáles las funciones de este órgano? Objetivo: Examinar las principales características anatómicas y funcionales del cerebelo y relacionarlas con su expresión clínica cuando enferma, así como comentar sobre su abanico de etiologías en el niño. Métodos: Las fuentes de búsquedas fueron las bases de datos computarizadas: PubMed, Ebsco y SciELO. Se utilizaron las palabras clave: cerebelo, ataxia, erores congénicos del metabolismo y ataxias, ataxias episódicas, enfermedades progresivas del sistema nervioso y ataxias; en idioma español e inglés. Resultados: El cerebelo recepciona múltiples informaciones y las envía a diversas estructuras cerebrales por medio de las cuales modula la excitabilidad de estas estructuras y sus sistemas descendentes. Este órgano organiza, dirige, coordina múltiples funciones que se traducen en fuerza, tiempo y secuencia. El cerebelo enfermo impide que la persona ejecute sus funciones y movimientos de forma uniforme y coordinada; puede resultar afectado por un amplio abanico de posibilidades etiológicas, genéticas o adquiridas y enfermarse todo o parte de él. Consideraciones finales: El cerebelo cumple importantes funciones dentro del sistema nervioso, tiene una expresividad muy típica cuando está enfermo. El uso adecuado de las nuevas técnicas de estudios por imágenes y genéticas, entre otras, permiten al pediatra clínico estar en mejores condiciones para el diagnóstico de sus afecciones y tratamiento oportuno(AU)


Introduction: When we think about studying the cerebellum, the first thing that comes to mind may be the following questions: Which are its diseases? How they are clinically expressed? , and perhaps: What is its structure and what functions do this organ has? Objective: Examine the main anatomical and functional characteristics of the cerebellum and relate them to its clinical expression when it becomes ill, as well as comment on its range of etiologies in the child. Methods: Search sources were computerized databases like: PubMed, Ebsco, and SciELO. Keywords used were: cerebellum, ataxia, metabolism congenital errors and ataxias, episodic ataxias, progressive diseases of the nervous system and ataxias; in Spanish and English. Results: The cerebellum receives information and sends it to various brain structures through which it modulates the excitability of these structures and their downstream systems. This organ organizes, directs, and coordinates multiple functions that translate into strength, time and sequence. An ill cerebellum prevents the person from performing their functions and movements in a uniform and coordinated way; it can be affected by a wide range of etiological, genetic or acquired possibilities and make all or part of it ill. Final considerations: The cerebellum performs important functions within the nervous system; it has a very typical expressiveness when it is ill. Proper use of new imaging and genetic study techniques, among others, allows the clinical pediatricians to be better able to diagnose its conditions and timely treatment(AU)


Subject(s)
Humans , Ataxia , Cerebellum , Information , Pediatricians , Nervous System
3.
Article in Portuguese | LILACS | ID: biblio-1359777

ABSTRACT

RESUMO: A atrofia óptica autossômica dominante (ADOA) é uma das formas mais comuns de atrofias ópticas hereditárias, e causada por mutações no gene OPA1. Os pacientes afetados por essa doença geralmente apresentam perda visual na primeira década de vida, podendo apresentar manifestações extraoftalmológicas no decorrer dos anos, configurando uma síndrome chamada OPA1 plus ou ADOA-plus. Objetivos: Relatar caso de paciente portadora da síndrome ADOA-plus, estabelecendo correlações com casos descritos na literatura. Relato de caso: Paciente feminino, 30 anos, foi encaminhada para avaliação de quadro de atrofia óptica progressiva associada a sintomas de neuropatia periférica. Aos dois anos, foi diagnosticada com perda visual parcial em consulta de puericultura. Não relatou outros sintomas associados durante a infância e a adolescência. Aos 20 anos, apresentou dificuldades de deambular, fraqueza em membros inferiores e falta de equilíbrio. Aos 25 anos, após extensa investigação, foi identificada, através de sequenciamento de exoma, mutação patológica no gene OPA1 confirmando o diagnóstico ADOA-plus e iniciado tratamento com Coenzima Q10. Atualmente a paciente relata ataxia sensitiva, diminuição da acuidade visual progressiva, fasciculações e câimbras em MMII, disfagia e dispneia. Discussão: Muitos pacientes com ADOA-plus apresentam surdez neurossensorial como sintoma extraoftalmológico mais comum, além de quadros de parkinsonismo e demência, ataxia e ptose. Paciente relatada constitui um caso de atrofia óptica associado à neuropatia periférica, ataxia e miopatia. Devido à ampla variabilidade clínica dessa doença, deve-se investigar mutações no OPA1 em casos de paraparesia espástica progressiva associada à atrofia óptica, visto que possibilidade de tratamento com Coenzima Q10. (AU)


ABSTRACT: Introduction: Autosomal dominant optic atrophy (ADOA) is one of the most common forms of inherited optic atrophies and is caused by mutations in the OPA1 gene. Patients affected by this disease usually present visual loss in the first decade of life, and may present extra-ophthalmologic manifestations over the years, configuring a syndrome called OPA1 plus or ADOA-plus. Objectives: to report the case of a patient with ADOA-plus syndrome, establishing correlations with cases described in the literature, Case report: a 30-year-old female patient was referred for evaluation of progressive optic atrophy associated with symptoms of peripheral neuropathy. At two years of age, she was diagnosed with partial visual loss during a childcare visit. She reported no other associated symptoms during childhood and adolescence. At the age of 20, she presented with difficulty walking, lower limb weakness, and poor balance. At 25, after extensive investigation, a pathological mutation in the OPA1 gene was identified through exome sequencing, confirming the diagnosis of ADOA-plus, and treatment with Coenzyme Q10 was initiated. Currently the patient reports sensory ataxia, progressive decrease in visual acuity, fasciculations and cramps in the lower limbs, dysphagia and dyspnea. Discussion: Many patients with ADOA-plus present sensorineural deafness as the most common extra-ophthalmologic symptom, in addition to parkinsonism and dementia, ataxia and ptosis. The patient reported is a case of optic atrophy associated with peripheral neuropathy, ataxia and myopathy. Due to the wide clinical variability of this disease, OPA1 mutations should be investigated in cases of progressive spastic paraparesis associated with optic atrophy, since the possibility of treatment with Coenzyme Q10. (AU)


Subject(s)
Humans , Female , Adult , Ataxia , Deglutition Disorders , Visual Acuity , Coenzymes , Peripheral Nervous System Diseases , Parkinsonian Disorders , Paraparesis, Spastic , Optic Atrophy, Autosomal Dominant , Hearing Loss, Sensorineural , Muscle Cramp
4.
Arq. bras. med. vet. zootec. (Online) ; 72(4): 1397-1402, July-Aug. 2020. ilus
Article in English | LILACS, VETINDEX | ID: biblio-1131506

ABSTRACT

A captive adult male bush dog (Speothos venaticus) was referred to our Veterinary Medical Teaching Hospital from a local zoo due to a two-week history of progressive hind limb gait impairment and ataxia, non-responsive to clinical management. Computed tomography revealed decreased disc space at L3 - L4 level, with probable disc extrusion narrowing the right side of the spinal canal, compressing the spinal cord. We opted to surgically remove the disc material using both fenestration and right lateral pediculectomy (mini-hemilaminectomy) techniques. Twelve days after surgery there was mild residual proprioceptive ataxia. Gait was fully regained with remission of the neurological deficits around the 30th postoperative day. This is - to the best of our knowledge - the first successful report of a lumbar intervertebral disc extrusion in a bush dog (Speothos venaticus) surgically treated by pediculectomy and disc fenestration.(AU)


Um cachorro-vinagre (Speothos venaticus), macho, adulto, mantido em cativeiro, foi encaminhado ao Hospital Veterinário Universitário pelo zoológico local com histórico de duas semanas de comprometimento progressivo da marcha dos membros posteriores e ataxia, que não responderam ao tratamento clínico. Tomografia computadorizada revelou diminuição do espaço em disco no nível L3 - L4, com provável extrusão de disco estreitando o lado direito do canal vertebral, comprimindo a medula espinhal. Optamos por remover cirurgicamente esse material do disco usando técnicas de fenestração e pediculectomia lateral direita (mini-hemilaminectomia). Doze dias após a cirurgia, houve melhora na deambulação, com ataxia proprioceptiva residual leve. A marcha foi totalmente recuperada com remissão dos déficits neurológicos por volta do trigésimo dia de pós-operatório. Este é - até onde sabemos - o primeiro relato bem-sucedido de uma extrusão de disco intervertebral lombar em um cachorro-vinagre (Speothos venaticus) tratado cirurgicamente por pediculectomia e fenestração de disco.(AU)


Subject(s)
Animals , Male , Ataxia/veterinary , Canidae/injuries , Intervertebral Disc/pathology , Lumbosacral Region/surgery , Tomography, X-Ray Computed/veterinary , Animals, Zoo
5.
Rev. Hosp. Ital. B. Aires (2004) ; 39(4): 115-127, dic. 2019. ilus, tab
Article in Spanish | LILACS | ID: biblio-1099709

ABSTRACT

La neurofibromatosis (NF) comprende un grupo de enfermedades genéticas de herencia autosómica dominante, que se clasifican de la siguiente manera: neurofibromatosis tipo 1 (NF1), neurofibromatosis tipo 2 (NF2) y schwannomatosis (también conocida como neurofibromatosis tipo 3). Esta última es una enfermedad muy infrecuente, con una prevalencia aproximada de 1/126 000 personas, por lo que solo profundizaremos las dos primeras. La NF1, también conocida como la enfermedad de Von Recklinghausen, es la más frecuente de las tres y afecta principalmente la piel y el sistema nervioso periférico. Se caracteriza por la presencia de máculas "café con leche", pecas axilares o inguinales, nódulos de Lisch (hamartomas en el iris) y neurofibromas (tumores de la vaina de nervios periféricos). Otras manifestaciones menos frecuentes, aunque de mayor gravedad, incluyen gliomas del nervio óptico, meningiomas, neurofibromas malignos, escoliosis y displasia de la tibia. Su diagnóstico se suele realizar al nacimiento o durante los primeros años de vida, y se estima que un 50% de quienes la padecen presenta dificultades cognitivas. No hay datos concluyentes sobre la mortalidad en los pacientes con NF1, aunque se sabe que la expectativa de vida es menor que en la población general. La NF2 tiene una prevalencia considerablemente menor que la NF1 y su inicio es más tardío, afectando principalmente a adultos jóvenes. La presentación clínica típica se caracteriza por acúfenos, hipoacusia y ataxia en contexto de la presencia de schwannomas vestibulares bilaterales. Otros hallazgos menos frecuentes incluyen schwannomas de nervios periféricos, meningiomas, ependimomas o astrocitomas. La esperanza de vida es de unos 36 años, con una supervivencia media desde el momento del diagnóstico de 15 años. (AU)


Neurofibromatosis (NF) includes a group of genetic diseases with an autosomal-dominant inheritance pattern, and they are classified as follows: Neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and Schwannomatosis (also known as neurofibromatosis type 3). This last one is a very rare disease, with an approximate prevalence of 1/126000, so we will only deepen in the first two. NF1, also known as von Recklinghausen disease, is the most frequent, and mainly affects the skin and peripheral nervous system. Its typical manifestations are the presence of café-au-lait macules, axillary or inguinal freckles, Lisch nodules (hamartomas in the iris) and neurofibromas (peripheral nerve sheath tumors). Less frequent manifestations, although more serious, include optic nerve gliomas, meningiomas, malignant neurofibromas, scoliosis and tibial dysplasia. The diagnosis is usually made at birth or during the first years of life, and approximately 50% of patients present cognitive difficulties. There is no conclusive data on mortality in patients with NF1, although it is known that life expectancy is lower than in general population. NF2 has a considerably lower prevalence than NF1, and its onset is later in life, mainly affecting young adults. Its typical clinical presentation is characterized by tinnitus, hearing loss and ataxia in the context in the presence of bilateral vestibular schwannomas. Less frequent findings include peripheral nerve schwannomas, meningiomas, ependymomas or astrocytomas. Life expectancy is about 36 years old, with a median survival from the moment of diagnosis of 15 years. (AU)


Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Adult , Young Adult , Neurofibromatosis 2/etiology , Neurofibromatosis 1/etiology , Neurofibromatoses/classification , Astrocytoma/physiopathology , Ataxia , Scoliosis/physiopathology , Tibia/abnormalities , Tinnitus , Bone Diseases, Developmental/physiopathology , Neuroma, Acoustic/complications , Life Expectancy , Neurofibromatosis 2/epidemiology , Neurofibromatosis 1/physiopathology , Neurofibromatosis 1/mortality , Neurofibromatosis 1/epidemiology , Neurofibromatoses/diagnosis , Optic Nerve Glioma/physiopathology , Ependymoma/physiopathology , Hearing Loss , Iris Diseases/physiopathology , Melanosis/physiopathology , Meningioma/physiopathology , Neurilemmoma/etiology , Neurilemmoma/physiopathology , Neurofibroma/physiopathology , Neurofibroma/pathology
6.
Pesqui. vet. bras ; 39(12): 949-953, Dec. 2019. ilus
Article in English | LILACS, VETINDEX | ID: biblio-1056927

ABSTRACT

Talisia esculenta, commonly known as pitombeira, is a tree which fruits are widely consumed by human beings in northeastern Brazil. The aim of this work is to describe the epidemiological, clinical and pathological aspects of two outbreaks of spontaneous poisoning by T. esculenta in cattle in the dry region of Pernambuco, northeastern Brazil. The cases occurred in the municipalities of São Bento do Una and Belo Jardim. From a total of 25 adult cattle, eight become sick after ingest T. esculenta leaves and fruits. Four cattle died until 72 hours after the first clinical signs; which consisted in ataxia, reluctance to walk, tottering, head tremors muscle spasms in the limbs, rigidity of the pelvic limbs with wide base stance position, ruminal atony and, when stressed, presented falls and remained in abnormal positions. Two cattle were necropsied; the only significant finding was the presence of partially digested leaves, barks and seeds of T. esculenta in ruminal contents. Microscopically no lesions were observed. There is no specific therapy for poisoning by T. esculenta leaves. Prophylaxis consists in preventing cattle from gaining access to pasture areas containing the plant.(AU)


Talisia esculenta, popularmente conhecida como pitombeira, é uma árvore cujos frutos são amplamente consumidos por seres humanos no nordeste do Brasil. O objetivo deste trabalho é descrever os aspectos epidemiológicos, clínicos e patológicos de dois surtos de intoxicação espontânea por T. esculenta em bovinos no Agreste de Pernambuco, Nordeste do Brasil. Os casos ocorreram nos municípios de São Bento do Una e Belo Jardim De um total de 25 bovinos adultos, oito adoeceram após consumirem as folhas e frutos de T. esculenta. Quatro morreram em até 72 horas após a observação dos primeiros sinais clínicos; que consistiam em ataxia, relutância em caminhar, andar cambaleante, tremores de cabeça, espasmos musculares nos membros, rigidez dos membros pélvicos com posição de ampla base, atonia ruminal e, quando excitados, apresentavam quedas e permaneciam em posições anormais. Dois bovinos foram necropsiados e o único achado significante foi a presença de folhas, cascas e sementes parcialmente digeridas de T. esculenta no conteúdo ruminal. Microscopicamente não foram observadas lesões. Não existe terapia específica para a intoxicação pelas folhas de T. esculenta. A profilaxia consiste em evitar que bovinos tenham acesso às áreas de pastagem contendo a planta.(AU)


Subject(s)
Animals , Cattle , Plant Poisoning/veterinary , Ataxia/etiology , Sapindaceae/poisoning
7.
Arq. bras. med. vet. zootec. (Online) ; 71(4): 1327-1330, jul.-ago. 2019. ilus
Article in English | LILACS, VETINDEX | ID: biblio-1038622

ABSTRACT

A 12-month-old mule (sterile hybrid equine species) presented unspecific neurological changes (symmetric ataxia, dysmetria, conscious proprioceptive deficit and weakness). Due to poor prognosis and to the fact that a sibling from the previous generation exhibited similar clinical signs that were not definitively diagnosed, the animal was euthanized. Diagnosis of neuroaxonal dystrophy was confirmed by anatomohistopathological analysis. This is the first clinical case of neuronal dystrophy in a mule reported in the world. The clinical and histopathological characteristics of this disease were very similar to those reported for several equine breeds. Therefore, the disease should also be considered in the diagnosis of neurological conditions in mules and donkeys.(AU)


Relata-se o caso de uma mula de 12 meses que apresentou alterações neurológicas inespecíficas (ataxia simétrica, dismetria, déficit proprioceptivo consciente e fraqueza). Devido ao mau prognóstico e ao fato de um irmão da geração anterior apresentar sinais clínicos similares sem diagnóstico conclusivo, o animal foi eutanasiado. O diagnóstico de distrofia neuroaxonal foi confirmado por análise anátomo-histopatológica. Esse é o primeiro caso clínico de distrofia neuroaxonal em muar relatado no mundo. As características clínicas e histopatológicas dessa doença foram muito semelhantes às relatadas em várias raças de equinos. Portanto, a doença também deve ser considerada no diagnóstico de condições neurológicas em muares e asininos.(AU)


Subject(s)
Animals , Equidae/anatomy & histology , Equidae/blood , Neuroaxonal Dystrophies/diagnosis , Neuroaxonal Dystrophies/veterinary , Ataxia/veterinary
8.
Arch. argent. pediatr ; 117(3): 257-262, jun. 2019. tab
Article in Spanish | LILACS, BINACIS | ID: biblio-1001198

ABSTRACT

El síndrome de fragilidad del cromosoma X es la causa de discapacidad intelectual heredable más frecuente. Asociado a trastornos del espectro autista en un tercio de los pacientes, afecta, con mayor prevalencia, a los varones. Se debe a una expansión de trinucleótidos CGG (citosina, guanina, guanina), llamada mutación completa en el locus Xq27.3 del gen FMR1, que conduce a la hipermetilación en el promotor del gen y reduce los niveles de expresión de FMRP, una proteína implicada en la maduración y plasticidad sináptica. Una expansión menor de CGG es la causa de insuficiencia ovárica primaria y del síndrome de temblor/ataxia asociado a X frágil, caracterizado por ataxia cerebelosa progresiva, de inicio tardío, y temblor de intención. En el presente estudio de serie de casos, se analiza la segregación de mutaciones del gen FMR1 en diferentes familias y la variabilidad de expresión clínica que llevó a la consulta genética.


The fragile X syndrome occurs due to an expansion of CGG trinucleotides, called full mutation, which is found at the Xq27.3 locus of the FMR1 gene. It is the most common cause of inherited intellectual disability. Associated with autistic spectrum disorders in one third of the patients, it affects males with higher prevalence. It also leads to hypermethylation of the gene promoter, silencing it and reducing the expression levels of FMRP, a protein involved in synaptic maturation and plasticity. A lower expansion causes primary ovarian failure syndrome as well as tremor and ataxia syndrome characterized by progressive cerebellar ataxia of late onset and intention tremor. In the present case-control study we analyze the segregation of mutations of the FMR1 gene in different families and the variability of expression that led to the genetic consultation.


Subject(s)
Humans , Child, Preschool , Child , Adolescent , Adult , Ataxia , Primary Ovarian Insufficiency , Fragile X Syndrome , Intellectual Disability
9.
Rev. bras. neurol ; 55(2): 33-35, abr.-jun. 2019.
Article in Portuguese | LILACS | ID: biblio-1010041

ABSTRACT

OBJETIVO: Descrever um quadro clínico subagudo pós-infeccioso caracterizado por ataxia de tronco e flutter ocular. RELATO DE CASO: Um homem de 37 anos previamente hígido, pouco após um quadro sistêmico inespecífico que se resolveu espontaneamente, deu início a movimentos involuntários hipercinéticos dos olhos, da cabeça e desequilíbrio importante. Os sintomas evoluíram em poucos dias. Ao exame, apresentava ataxia de tronco e presença de flutter ocular. O líquor mostrou pleocitose discreta. Ressonância magnética (RM) de crânio e exames laboratoriais normais. Houve melhora espontânea e total dos sintomas em cerca de três semanas. CONCLUSÃO: A síndrome de flutter ocular e ataxia de tronco é rara e é destacado a benignidade do quadro.


OBJECTIVE: To describe a post-infectious subacute clinical picture characterized by truncal ataxia and ocular flutter. CASE REPORT: A healthy 37-year-old man, a few days after spontaneously resolved nonspecific systemic disease, initiated involuntary hyperkinetic movements of the eyes, head, and major imbalance. The symptoms progressed within a few days. He presented ataxia of the trunk and presence of ocular flutter. CSF showed pleocytosis. Magnetic resonance of the skull and laboratory tests were normal. There was spontaneous and total improvement of symptoms in about three weeks. CONCLUSION: The ocular flutter syndrome and truncal ataxia is rare and the benignity of the condition is highlighted.


Subject(s)
Humans , Male , Adult , Ataxia/diagnosis , Ocular Motility Disorders/diagnosis , Ocular Motility Disorders/etiology , Ocular Motility Disorders/physiopathology , Infections/complications , Remission, Spontaneous , Follow-Up Studies , Encephalitis
11.
Pesqui. vet. bras ; 39(2): 123-128, Feb. 2019. ilus
Article in English | LILACS, VETINDEX | ID: biblio-990251

ABSTRACT

The aim of this study was to report the clinical and pathological aspects of an outbreak of poisoning by the ingestion of Ricinus communis leaves in a herd of goats at Pernambuco, northeastern Brazil. Within 3-5 hours after ingesting the sprouts and young shrubs of the plant, twenty Toggenburg female goats and two adults crossbred wethers presented acute neurological clinical signs, which were initially characterized by decreased locomotor activity that later evolved to severe ataxia, depression, incoordination and staggering gait. Four goat that died spontaneously were necropsied. Gross lesions were unspecific and consisted in focal areas of lungs edema, petechial hemorrhages in the epicardium and congestion and enlargement of liver. The contents of the rumen, reticulum and omasum were dry and contained leaves of the plant. Histologically there were no lesions in the CNS. In the liver, the main lesion consisted in cytoplasmic vacuolization and necrosis of hepatocytes. Eighteen goats recovered after a supportive therapy with activated charcoal, glycated isotonic solution, dexamethasone and vitamin B12. There is no specific therapy for poisoning by R. communis, however supportive and symptomatic treatments are recommended and should be based on the clinical signs.(AU)


O objetivo deste estudo foi relatar os aspectos clínicos e patológicos de um surto de intoxicação pelas folhas de Ricinus communis em um rebanho de caprinos em Pernambuco, Nordeste do Brasil. Três a cinco horas após a ingestão dos brotos e arbustos jovens da planta, vinte cabras da raça Toggenburg e dois machos mestiços apresentaram quadro clínico neurológico agudo caracterizado principalmente pela diminuição da atividade locomotora, grave ataxia, depressão, incoordenação e marcha cambaleante. Quatro caprinos morreram espontaneamente e foram necropsiados. Macroscopicamente, as lesões eram inespecíficas e consistiam em áreas focais de edema pulmonar, hemorragias petequiais epicárdicas e aumento do volume e congestão do fígado. Os conteúdos do rumem, retículo e omaso eram ressecados e continham folhas da planta. Histologicamente, não foram observadas lesões no SNC. No fígado, havia vacuolização citoplasmática e necrose de hepatócitos. Dezoito caprinos se recuperaram após receberem terapia de suporte com carvão ativado, soro glicosado, dexametasona e vitamina B12. Não existe terapêutica especifica para a intoxicação pelas folhas de R. Communis. Os tratamentos sintomáticos e de suporte são recomendados e devem basear-se nos sinais clínicos.(AU)


Subject(s)
Animals , Plant Poisoning/veterinary , Ricin/poisoning , Ricinus/poisoning , Ruminants , Ataxia/veterinary , Animal Nutritional Physiological Phenomena
12.
Fisioter. Mov. (Online) ; 32: e003219, 2019. tab, graf
Article in English | LILACS | ID: biblio-1012116

ABSTRACT

Abstract Introduction: Constraint-induced movement therapy (CIMT) is a very modern method used in rehabilitation to treat individuals with functional impairment of the upper limbs. Objective: To apply the CIMT method and evaluate its effects in a patient with ataxia after removal of a cerebellar tumor. Method: This is a longitudinal interventional study of the case report type. The participant complained of tremors and difficulty writing and typing with the right hand as a result of the cerebellar tumor's removal. She was subjected to CIMT daily in three-hour sessions for 10 days. The participant was evaluated with the Motor Activity Log (MAL) and the Wolf Motor Function Test (WMFT). Results: There was an improvement in the quantity, quality, speed, accuracy and strength with which the participant performed the tasks according to the MAL and WMFT scales. Improvement in writing was also identified and the report of better use of the member for daily tasks demonstrated the patient's satisfaction after the end of therapy. Conclusion: This case report demonstrated the benefits of the application of the CIMT method in a patient with ataxia as a consequence of a rare cerebellar tumor, improving task execution time, strength and functional improvement of the affected upper limb.


Resumo Introdução: A terapia por contensão induzida (TCI) é um método atual de reabilitação com intuito de tratar indivíduos com perdas funcionais nos membros superiores. Objetivo: Aplicar o método TCI e avaliar seus efeitos em uma paciente com ataxia após a remoção de tumor cerebelar. Método: Trata-se de um estudo longitudinal de caráter intervencionista do tipo relato de caso. A participante queixava-se de tremor e dificuldade de escrever e digitar com a mão direita em consequência da retirada de um tumor cerebelar. Foi tratada segundo método de TCI por três horas diárias durante 10 dias e avaliada pela Motor Activity Log (MAL) e Wolf Motor Activity Test (WMFT). Resultados: Houve melhora na quantidade, qualidade, velocidade, exatidão e força com que a participante executava as tarefas de acordo com as escalas MAL e WMFT. A melhora na escrita também foi identificada e o relato de melhor uso do membro para tarefas cotidianas demostrou satisfação da paciente após o final da terapia. Conclusão: Esse relato de caso demostrou os benefícios da aplicação do método TCI em uma paciente com ataxia como sequela de um tumor cerebelar raro, o que proporcionou melhora no tempo de execução de tarefas força e ganho funcional no membro afetado.


Resumen Introducción: La terapia por contención inducida (TCI) es un método actual de rehabilitación com el propósito de tratar individuos con pérdidas funcionales en los miembros superiores. Objetivo: Aplicar el método TCI y evaluar sus efectos en una paciente con ataxia después de la remoción del tumor cerebeloso. Método: Se trata de una investigación longitudinal de carácter intervencionista del tipo informe de caso. Una participante se quejaba de temblor y dificultad para escribir con la mano derecha, como consecuencia de la remoción de un tumor cerebeloso. Se la trató según el método de terapia inducida por tres horas diarias durante 10 días e, después de la evaluación del registro de actividades motoras Motor Activity Log (MAL) y Wolf Motor Activity Test (WMFT). Resultados: Se ha mejorado la cantidad, calidad, velocidad, exactitud y en la fuerza con que la participante desarrollaba sus tareas de acuerdo con las escalas MAL y WMFT. También se identificó una mejora en la escritura, además del relato de mejor uso del miembro para tareas de la vida cotidiana, lo que demuestra la satisfacción de la paciente después del fin de la terapia. Conclusión: Este relato de caso demuestra los beneficios de la aplicación del método TCI en una paciente con ataxia como secuela de un tumor cerebeloso raro, lo que proporcionó una mejora en el tiempo de ejecución de tareas, fuerza y proporciono provechos funcionales en el miembro afectado.


Subject(s)
Astrocytoma , Ataxia , Neurological Rehabilitation , Upper Extremity
13.
Article in Korean | WPRIM | ID: wpr-766793

ABSTRACT

Wernicke encephalopathy is a syndrome caused by thiamine deficiency whose three typical symptoms are ophthalomoplegia, ataxia, and confusion. There are also rare reports of bilateral hearing loss, which can be caused by damage to the bilateral inferior colliculus or thalamic lesions, or by energy failure of the cochlea. This case suggests that thiamine should be administered based on the possibility of Wernicke encephalopathy occurring in malnourished or alcoholic patients with sudden bilateral hearing loss.


Subject(s)
Alcoholics , Ataxia , Cochlea , Hearing Loss , Hearing Loss, Bilateral , Humans , Inferior Colliculi , Thiamine , Thiamine Deficiency , Wernicke Encephalopathy
14.
Article in Korean | WPRIM | ID: wpr-766742

ABSTRACT

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), which is caused by mutations in SACS gene, is a very rare neurodegenerative disorder characterized by the clinical triad of early onset cerebellar ataxia, pyramidal tract features, and sensorimotor polyneuropathy. Herein, we report a 35-year-old Korean male who presented with gait disturbance and lower extremity weakness. Neuroimaging and ophthalmologic evaluation revealed features consistent with ARSACS. Mutation in SACS gene was demonstrated in clinical exome sequence analysis and the patient was finally diagnosed as ARSACS.


Subject(s)
Adult , Ataxia , Cerebellar Ataxia , Exome , Gait , Humans , Lower Extremity , Male , Muscle Spasticity , Neurodegenerative Diseases , Neuroimaging , Polyneuropathies , Pyramidal Tracts , Sequence Analysis , Spinocerebellar Degenerations
15.
Article in English | WPRIM | ID: wpr-766401

ABSTRACT

Swallowing can be affected by a variety of systemic diseases. The etiology of dysphagia in the geriatric population is usually overlooked due mainly to a presumed diagnosis of presbyphagia or difficulty in revealing the direct cause. On the other hand, dysphagia can be a meaningful clinical sign of premalignant systemic disease. A 78-year-old man, without any prior medical or family history, was admitted with the chief complaint of dysphagia with recent aspiration pneumonia. Instrumental swallowing tests revealed a severe degree of dysphagia due to decreased laryngopharyngeal sensation and weakness of the pharyngeal constrictor muscles. Extensive workup, including electromyography and laboratory tests, revealed severe sensorimotor peripheral polyneuropathy related to monoclonal gammopathy. Monoclonal gammopathy of undetermined significance (MGUS) is a premalignant precursor of multiple myeloma, which is characterized by the proliferation of monoclonal proteins. These conditions are often associated with peripheral polyneuropathy, ataxia, and sometimes even muscle weakness. Although dysphagia can occur in other systemic disorders, such as vasculitis or paraneoplastic syndrome-related malignancies, there are few reports of dysphagia related to MGUS. The patient was followed up for three years. The MGUS showed no further progression, but the patient showed no improvement, indicating a protracted clinical course and poor prognosis when dysphagia is related to MGUS.


Subject(s)
Aged , Ataxia , Deglutition , Deglutition Disorders , Diagnosis , Electromyography , Hand , Humans , Monoclonal Gammopathy of Undetermined Significance , Multiple Myeloma , Muscle Weakness , Muscles , Paraproteinemias , Pneumonia, Aspiration , Polyneuropathies , Prognosis , Sensation , Vasculitis
16.
Article in English | WPRIM | ID: wpr-765860

ABSTRACT

No abstract available.


Subject(s)
Tremor , Fragile X Syndrome , Ataxia
17.
Article in English | WPRIM | ID: wpr-765843

ABSTRACT

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.


Subject(s)
Ataxia , Cerebellar Diseases , Eye Movements , Humans , Hyperkinesis , Movement Disorders , Paralysis , Parkinson Disease , Parkinsonian Disorders , Pursuit, Smooth , Reflex, Vestibulo-Ocular , Saccades
18.
Asian Spine Journal ; : 615-620, 2019.
Article in English | WPRIM | ID: wpr-762966

ABSTRACT

STUDY DESIGN: Observational study. PURPOSE: This study aims to assess the clinical and urodynamic parameters in patients with spinal tuberculosis (TB) exhibiting lower urinary tract symptoms (LUTS) at the time of presentation and after spinal surgical intervention. OVERVIEW OF LITERATURE: Variable urodynamic findings in patients with spinal TB. METHODS: We prospectively evaluated 10 patients with spinal TB exhibiting LUTS. Urinary symptoms were assessed by the American Urological Association (AUA) symptom score. We performed a urodynamic study (UDS), including electromyography, in all patients before and 3 months after spinal surgery. RESULTS: The mean age of patients was 29.7 years (range, 15–52 years), and the mean AUA symptom score was 12.5 and 11.8 before and after spinal surgery, respectively. Overall, five patients exhibited improvement in the AUA symptom score, and three showed no change, while two patients’ condition worsened. We observed detrusor overactivity (DO) in two patients, and detrusor sphincter dyssynergia (DSD) in four patients. In addition, high-pressure voiding (HPV) was noted in two patients. On follow-up after spinal surgery, DO and DSD exhibited no improvement. Although HPV resolved, two patients developed new-onset poor compliance with worsening DO and DSD. Furthermore, two patients had bilateral hydronephrosis before surgery, which resolved on follow-up. CONCLUSIONS: Patients with spinal TB exhibiting LUTS can display a spectrum of clinical presentations and variable UDS findings. As two patients exhibited new onset poor compliance with bilateral hydronephrosis in one of them, this study concludes that a close follow-up for upper tracts in these patients is required despite successful spinal surgery.


Subject(s)
Ataxia , Compliance , Electromyography , Follow-Up Studies , Humans , Hydronephrosis , Lower Urinary Tract Symptoms , Observational Study , Prospective Studies , Tuberculosis, Spinal , Urodynamics
19.
Article in English | WPRIM | ID: wpr-762661

ABSTRACT

Niemann-Pick disease type C (NP-C) is a rare autosomal recessive neurovisceral lysosomal lipid storage disorder. The clinical manifestations of the disorder are variable. This report describes the case of a 27-month-old girl with NP-C whose condition had been misdiagnosed as spastic cerebral palsy (CP). She had spasticity, particularly at both ankles, and gait disturbance. Magnetic resonance imaging of the brain revealed findings suspicious of sequelae from a previous insult, such as periventricular leukomalacia, leading to the diagnosis of CP. However, she had a history of hepatosplenomegaly when she was a fetus and her motor development had deteriorated, with symptoms of vertical supranuclear gaze palsy, cataplexy, and ataxia developing gradually. Therefore, NP-C was considered and confirmed with a genetic study, which showed mutation of the NPC1 gene. Thus, if a child with CP-like symptoms presents with a deteriorating course and NP-C-specific symptoms, NP-C should be cautiously considered.


Subject(s)
Ankle , Ataxia , Brain , Cataplexy , Cerebral Palsy , Child , Child, Preschool , Diagnosis , Female , Fetus , Gait , Humans , Infant, Newborn , Leukomalacia, Periventricular , Magnetic Resonance Imaging , Muscle Spasticity , Niemann-Pick Diseases , Paralysis
20.
Article in Korean | WPRIM | ID: wpr-762189

ABSTRACT

Filamin A is an actin-binding protein and, in humans, is encoded by FLNA gene in the long arm of X chromosome. Filamin A plays a role in the formation of cytoskeleton by crosslinking actin filaments in cytoplasm. FLNA mutations affect cytoskeletal regulatory processes and cellular migrating abnormalities that result in periventricular heterotopia. A 5-month-old girl was hospitalized because of breathing difficulty and was diagnosed as having periventricular heterotopia with laryngomalacia, cricopharyngeal incoordination, pulmonary hypertension, and chronic lung disease. A genetic test was performed to find the cause of periventricular heterotopia, and FLNA gene mutation (c.5998+1G>A) was confirmed for the first time in Korea. After discharge, she developed respiratory failure due to a viral infection at 8 months of her age. In spite of management with mechanical ventilation, she died of pneumothorax and pulmonary hemorrhage. Herein, we report a case of FLNA gene mutation who presented with periventricular nodular heterotopia with respiratory insufficiency.


Subject(s)
Actin Cytoskeleton , Arm , Ataxia , Cytoplasm , Cytoskeleton , Female , Filamins , Hemorrhage , Humans , Hypertension, Pulmonary , Infant , Korea , Laryngomalacia , Lung Diseases , Periventricular Nodular Heterotopia , Pneumothorax , Respiration , Respiration, Artificial , Respiratory Insufficiency , X Chromosome
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