ABSTRACT
Para crianças com paralisia cerebral (PC), as órteses assumem papel importante em seu desempenho funcional. Objetivo: Analisar a pisada estática e a marcha de uma criança com PC do tipo atetóide após uso diário do TheraTogs®. Método: Estudo de caso de um menino com nove anos de idade, PC do tipo atetóide, já possuía a veste terapêutica, mas não aplicava diariamente. Foi possível verificar dados do sujeito por meio de uma entrevista com a família e, para caracterização motora inicial, utilizou-se o Gross Motor Function Measure 88. Para o diagnóstico e avaliação plantar, executou-se o baropodômetro e, na aferição cinemática da marcha, empregou-se a câmera Gopro Hero 7. O sujeito passou a usar de seis a 10 horas ao dia por oito semanas de forma sistemática e foi reavaliado. Resultado: O mesmo apresentou melhora na passada, redução da rotação externa de quadril e no apoio do pé direito (D) no solo. Na pisada estática, o ponto máximo de pressão ocorreu em retropé D, o centro de gravidade sofreu uma lateralização para a esquerda (E). No arco longitudinal ocorreu uma diminuição da carga, principalmente no médio pé D, onde a pressão maior foi no calcanhar. No médio pé E a descarga no arco longitudinal reduziu, mas ainda permaneceu. Conclusão: Foram encontradas mudanças na pisada estática e na marcha de um paciente com PC do tipo atetóide com uso diário, por oito semanas. São necessárias mais pesquisas que investiguem esse tema
For children with cerebral palsy (CP), the orthotics turn an important role in their functional performance. Objective: The aim of the study was to analyze the static footstep and gait of a child with athetoid type CP after daily use of TheraTogs®. Method: Case study of a nineyear-old boy, CP of the athetoid type, who already had the therapeutic garment, but did not wear it daily. It was possible to verify the individual's data through an interview with the family and for the subject's initial motor characterization, the Gross Motor Function Measure - 88 was used. For the diagnosis and plantar evaluation, a baropodometer was applied, and for the kinematic gait measurement, the Gopro Hero 7 camera was used. The subject started to use it systematically, for a period of six to ten hours a day, for eight weeks and was re-evaluated. Results: He showed improvement in the step, reduction in the external rotation of the knee and hip and in the support of the right foot (R) on the ground. In static treading, the maximum pressure point occurred in hindfoot R, the center of gravity was lateralized to the left (L), in the longitudinal arch there was a decrease in load, especially in the midfoot R, where the greatest pressure was in the heel. In the midfoot L this discharge in the longitudinal arc was reduced, but it still remained. Changes were found in the static tread and gait of a patient with CP of the athetoid type with daily use, for eight weeks. More studies are necessary to investigate this topic. Conclusion: In spite of the static tread and gait changes that were found, more research will be necessary to investigate the required time of use and its advantages in the long term
ABSTRACT
El síndrome de deficiencia del transportador de glucosa cerebral de tipo 1 es una enfermedad neurometabólica rara en pediatría. Existe un fenotípico clásico (85 %) y otro no clásico (15 %). Ambos fenotipos se asocian con hipoglucorraquia. Se identifican múltiples mutaciones en el gen SLC2A1. El tratamiento es la terapia cetogénica. Se presenta un varón que comenzó a los cuatro años con hemicorea y hemidistonía medicado con anticonvulsivantes sin respuesta clínica, por lo que consultó nuevamente a los seis años. Con sospecha diagnóstica de síndrome de déficit de glut-1 atípico se realizó punción lumbar; el diagnóstico se confirmó por la presencia de hipoglucorraquia. Inmediatamente después de iniciar la dieta cetogénica, el paciente no presentó más movimientos anormales durante los siguientes 8 años hasta la actualidad, ya cumplidos los 14 años.
Glucose transporter type 1 deficiency syndrome is a rare pediatric neurometabolic disorder. There are two phenotypes: the classical phenotype (85%) and the non-classic (15%). Both phenotypes are associated with hypoglycorrhachia. Multiple mutations are described in the SCL2A1 gene. The treatment is the ketogenic diet. We report a case of a four-year-old male patient who started with hemichorea and hemidystonia and was medicated with drugs for seizures without clinical response, that's why his parents made another pediatric consultation at his six-year-old. With the suggestive clinical findings of glucose transporter type 1 deficiency syndrome the lumbar puncture was made confirming the diagnosis. Immediately after starting the ketogenic diet the patient stopped making abnormal movements up to the moment when he is fourteen years old, eight years after.
Subject(s)
Humans , Male , Adolescent , Carbohydrate Metabolism, Inborn Errors/complications , Carbohydrate Metabolism, Inborn Errors/diagnosis , Carbohydrate Metabolism, Inborn Errors/genetics , Diet, Ketogenic , Monosaccharide Transport Proteins/deficiency , Monosaccharide Transport Proteins/genetics , Glucose Transporter Type 1ABSTRACT
RESUMEN INTRODUCCIÓN: La ganglionopatía sensitiva es una rara complicación del déficit de vitamina B12, la cual da origen a un espectro de síntomas neurológicos que incluyen alteración de la sensibilidad vibratoria, propiocepción, ataxia y, con menor frecuencia, trastornos del movimiento. La pseudoatetosis es una presentación muy inusual. CASO CLÍNICO: Un paciente masculino de 73 años se presenta con parestesias y torpeza de las cuatro extremidades, dolor tipo urente en plantas de pies y manos, inestabilidad postural y limitación para la marcha. En la exploración neurológica se encuentra hipoestesia y ataxia sensitiva de las cuatro extremidades, con presencia de pseudoatetosis de los miembros superiores como consecuencia de ganglionopatía por déficit de vitamina B12 demostrada por la imagen típica de "V" invertida, debido a compromiso de las proyecciones centrales las neuronas sensitivas mielinizadas en RMN de columna cervicotoráccica. A los cuatro meses se reporta mejoría del déficit propioceptivo y corrección del trastorno de movimiento gracias a la reposición de la cianocobalamina intramuscular. Hasta el momento no se presenta patología neoplásica, autoinmune o infecciosa. CONCLUSIONES: La ganglionopatía sensitiva por déficit de vitamina B12 es una condición potencialmente reversible y subdiagnosticada que puede manifestarse ocasionalmente con trastornos del movimiento. Debe sospecharse en pacientes con déficits sensitivos por compromiso de fibra gruesa. Su pronóstico es favorable si la causa del déficit se documenta tempranamente y se hace reposición de dicha vitamina.
SUMMARY INTRODUCTION: Sensory ganglionopathy is a rare complication of vitamin B12 deficiency, causing an spectrum of neurologic symptoms such as abnormal vibratory sensitivity, proprioception, gait disturbance and rarely movement disorders like pseudoatetosis and dystonia. CLINICAL CASE: A73-year-old man was admitted with numbness and clumsiness of his extremities, burning pain on palms and soles, postural instability and impaired walking. Neurological examination demonstrated hypesthesia and sensory ataxia of four limbs with associated pseudo athetoid movements of the upper limbs as a consequence of ganglionopathy by vitamin B12 deficiency, showing typical MRI inverted "V" sign due to degeneration of central projections from large sensory neurons, which was successfully treated with IM cyanocobalamin 4 months later. CONCLUSIONS: Sensory ganglionopathy in B12 deficit is a potentially reversible and underdiagnosed condition, which occasionally can present with movement disorders. Must be suspected in patiens presenting with sensory deficits depending on richly myelinated axons. Usually with good prognosis after identifying the deficit's cause and giving propper treatment.
Subject(s)
Transit-Oriented DevelopmentABSTRACT
Introducción: El síndrome de Fahr (SF) es un raro trastorno neurológico caracterizado por depósito anormal de calcio en áreas del cerebro que controlan el movimiento. Objetivo: Presentar el caso de una mujer de 41 años con un síndrome convulsivo, trastorno psicótico, trastorno neurocognitivo y discapacidad intelectual asociado a calcificaciones cerebrales bilaterales con alteración del metabolismo fosfocálcico en el contexto de un hipoparatiroidismo. Método: Informe de caso Resultados: Las calcificaciones encontradas en la paciente podrían ser la causa de los síntomas psicóticos y del deterioro cognitivo. Se presentan las imágenes diagnósticas y las pruebas de laboratorio, así como la evaluación psiquiátrica y la evaluación neuropsicológica. Se compara la presentación clínica de este caso con otros similares informados en la literatura. Se describen las modalidades terapéuticas y se muestra la evolución clínica. Conclusiones:El síndrome de Fahr se debe sospechar en pacientes con alteraciones neuropsiquiátricas y convulsiones. Los estudios de neuroimagen, la evaluación del metabolismo fosfocálcico y la concentración de hormona paratiroidea son importantes en este tipo de paciente.
Introduction: Fahr syndrome (SF) is a rare neurological disorder, characterized by abnormal deposition of calcium in brain areas that control movement. Objective: The case is presented of a 41-year-old female with a convulsive syndrome, psychotic disorder, neurocognitive disorde,r and intellectual disability associated with bilateral brain calcifications and altered calcium/phosphorus metabolism in the context of hypoparathyroidism. Method: Case report. Results: The calcifications found in the patient could be the cause of psychotic symptoms and cognitive impairment. Diagnostic imaging, laboratory tests, psychiatric and neuropsychological assessments are presented. The clinical presentation of this case is compared with similar ones reported in the literature. Therapeutic approaches and clinical outcomes are described. Conclusions: Fahr's syndrome should be suspected in patients with neuropsychiatric disorders and seizures. Neuroimaging studies, and the determining of phosphorus and calcium metabolism and parathyroid hormone levels are important in this type of patient.
Subject(s)
Humans , Female , Adult , Psychotic Disorders , Syndrome , Calcium , Nervous System Diseases , Parathyroid Hormone , Clinical Evolution , Neuroimaging , Cognitive Dysfunction , Hypoparathyroidism , Intellectual DisabilityABSTRACT
@#Dyskinetic cerebral palsy is the general type of cerebral palsy. This review discussed the pathogenesis, functional disorders,assessment and rehabilitation for it in the past years.
ABSTRACT
Acquired hepatocerebral degeneration (AHD) and hepatolenticular degeneration can have similar clinical presentations, but when a chronic liver disease and atypical motor findings coexist, the distinction between AHD and hepatic encephalopathy (HE) can be even more complicated. We describe three cases of AHD (two having HE) with different neuroimaging findings, distinct hepatic diseases and similar motor presentations, all presenting chronic arterial hypertension and weight loss before the disease manifestations. The diagnosis and physiopathology are commented upon and compared with previous reports. In conclusion, there are many correlations among HE, hepatolenticular degeneration and AHD, but the overlapping of AHD and HE could be more common depending on the clinical knowledge and diagnostic criteria adopted for each condition. Since AHD is not considered a priority that affects the liver transplant list, the prognosis in AHD patients remains poor, and flow interruption in portosystemic shunts must always be taken into account.
A degeneração hepatocerebral adquirida (AHD) e a degeneração hepatolenticular podem ter apresentações clínicas semelhantes, mas quando uma doença hepática crônica e achados motores atípicos coexistem, a distinção entre AHD e encefalopatia hepática (HE) pode ser ainda mais complicada. Descrevemos três casos de AHD (dois tendo HE) com diferentes achados em neuroimagem, doenças hepáticas distintas e apresentações motoras semelhantes, todos com hipertensão arterial e perda de peso antes das manifestações motoras. O diagnóstico e a fisiopatologia são comentados e comparados com relatos prévios. Concluímos que existem muitas correlações entre HE, degeneração hepatolenticular e AHD, mas a sobreposição de HE e AHD pode ser mais comum dependendo do conhecimento clínico e da acurácia dos critérios diagnósticos adotados para cada enfermidade. Como a AHD não é considerada prioridade na lista de transplante hepático, o prognóstico dos pacientes com AHD permanece ruim, e a interrupção do fluxo nos shunts portossistêmicos deve ser sempre considerada.
Subject(s)
Female , Humans , Male , Middle Aged , Hepatic Encephalopathy/diagnosis , Hepatitis, Autoimmune/diagnosis , Hepatolenticular Degeneration/diagnosis , Liver Cirrhosis/diagnosis , Anti-Dyskinesia Agents/therapeutic use , Diagnosis, Differential , Disease Progression , Haloperidol/therapeutic use , Hepatic Encephalopathy/drug therapy , Hepatic Encephalopathy/physiopathology , Hepatitis, Autoimmune/physiopathology , Hepatolenticular Degeneration/drug therapy , Hepatolenticular Degeneration/physiopathology , Liver Cirrhosis/physiopathology , Magnetic Resonance Imaging , Prognosis , Severity of Illness IndexABSTRACT
@#Objective To study the correlation between intelligence and gross motor function for children with cerebral palsy. Methods 90 children with cerebral palsy (CP) were assessed with Gross Motor Function Classification System (GMFCS), Wechsler preschool and primary scale of intelligence (WPPSI), Wechsler intelligence scale for children (WISC-R) and analyzed statistically. Results The intelligence quotient (IQ) and verbal intelligence quotient (VIQ) of the children with athetotic cerebral palsy were normal, but lower than the average level of normal children(P<0.05). The IQ, VIQ and performance intelligence quotient (PIQ) of the children with spastic cerebral palsy were below the normal (P<0.05), the difference between VIQ and PIQ was significant (P<0.05). For children with spastic cerebral palsy, there was linear correlation between intelligence and the class of GMFCS, and for children with athetotic cerebral palsy there was no linear correlation. Conclusion There were differences of intelligence level and intelligence structure in different types of cerebral palsy, the correlation between intelligence and the class of GMFCS were also different in different types of cerebral palsy.
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@#ObjectiveTo explore the relations between the alkaline phosphatase(ALP) and the type of cerebral palsy. MethodsThe ALP level of 40 children with different types of cerebral palsy were examined with the Olympus AU-600 apparatus. ResultsThe ALP value of the children with spastic cerebral palsy is normal. The ALP value of the children with athetoid cerebral palsy is higher than spastic cerebral palsy(P<0.001).Conclusions The ALP value can help us to identify the type of cerebral palsy.
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Objective To report the results of the surgical treatment of cervical spondylotic myelopathy(CSM) secondary to athetoid cerebral palsy and clarify the characteristics and the principle of treatment of the disease. Methods The age of the patient, segments of vertabrae involved and operated upon, results and complications of 32 cases with CSM secondary to athetoid cerebral palsy were statistically analyzed and compared with 93 patients who had isolate CSM operatively treated at the same time. Results 1)The average age of the patients in the group of CSM secondary to athetoid cerebral palsy was 37.94 years,and in the group of isolate CSM was 52.48 years, with significant statistic difference(P