ABSTRACT
A sobrevida de mulheres após o tratamento do câncer de mama tem aumentado em virtude de avanços na detecção precoce e terapias disponíveis. Porém, as sobreviventes comumente enfrentam efeitos adversos após o tratamento que representam grande carga física e psicológica. Além da fadiga, a dor é o sintoma persistente mais frequente após o tratamento. Objetivo: Sistematizar os resultados de ensaios clínicos randomizados sobre a intervenção fisioterapêutica na dor neuropática periférica induzida pelos tratamentos para o câncer de mama. Método: Busca realizada nas bases de dados MEDLINE via portal PubMed e Cochrane. Foram selecionados ensaios clínicos randomizados publicados a partir de 2017, em língua inglesa, que abordassem as modalidades fisioterapêuticas como intervenção, a dor neuropática periférica induzida por tratamentos oncológicos como desfecho, e mulheres sobreviventes ao câncer de mama como população de interesse. A qualidade metodológica dos estudos foi avaliada pela ferramenta Cochrane para o risco de viés. Resultados: Quatro estudos foram revisados na íntegra. Majoritariamente, os efeitos adversos do tratamento oncológico se devem a regimes quimioterápicos à base de taxanos. Os desfechos avaliados incluem, além da dor, demais sinais neuropáticos e influência nas atividades de vida diária. Os estudos variaram quanto à intervenção e fase de tratamento. Apenas um dos estudos demonstrou resultado significativamente positivo a favor do grupo intervenção. Conclusão: Estudos clínicos randomizados disponibilizam evidências escassas quanto aos efeitos positivos da intervenção fisioterapêutica na dor neuropática periférica induzida pelos tratamentos para o câncer de mama.
Women's survival after breast cancer treatment has increased due to advances in early detection and available therapies. However, great physical and psychological burden are the result of adverse effects that survivors commonly face. In addition to fatigue, pain is the most common persistent symptom after cancer treatment. Objective: Systematize the results of randomized clinical trials on physiotherapeutic intervention in peripheral neuropathic pain induced by breast cancer treatments . Method:The search was carried out on the MEDLINE databases via PubMed and Cochrane portals. Randomized clinical trials published since 2017 in English, that addressed physiotherapeutic modalities as intervention, peripheral neuropathic pain induced by oncological treatments as outcome were selected, and the population of interest were women surviving breast cancer. The Cochrane-risk-of-bias tool was applied to evaluate the methodological quality of the studies. Results: Four studies were fully reviewed. Most of the adverse effects of cancer treatment are due to taxane-based chemotherapy regimens. The outcomes assessed include, in addition to pain, other neuropathic signs and influence on activities of daily living. The studies varied in terms of intervention and treatment phase. Only one of the studies demonstrated a significantly positive result in favor of the intervention group. Conclusion: Randomized clinical studies provide scant evidence regarding the positive effects of physiotherapeutic intervention on peripheral neuropathic pain induced by breast cancer treatments.
La supervivencia de las mujeres después del tratamiento del cáncer de mama ha aumentado debido a los avances en la detección temprana y las terapias disponibles. Sin embargo, los supervivientes suelen enfrentarse a efectos adversos después del tratamiento que representan una gran carga física y psicológica. Además de la fatiga, el dolor es el síntoma persistente más común después del tratamiento del cáncer. Objetivo: Sistematizar los resultados de ensayos clínicos aleatorizados sobre intervención fisioterapéutica en el dolor neuropático periférico inducido por tratamientos para el cáncer de mama. Método: La búsqueda se realizó en las bases de datos MEDLINE a través de los portales PubMed y Cochrane. Se seleccionaron ensayos clínicos aleatorizados publicados desde 2017, en inglés, que abordaron modalidades fisioterapéuticas como intervención, dolor neuropático periférico inducido por tratamientos oncológicos como resultado y mujeres sobrevivientes de cáncer de mama como población de interés. La calidad metodológica de los estudios se evaluó mediante la herramienta Cochrane de Riesgo de Sesgo. Resultados: Se revisaron en su totalidad cuatro estudios. La mayoría de los efectos adversos del tratamiento del cáncer se deben a los regímenes de quimioterapia basados en taxanos. Los resultados evaluados incluyen, además del dolor, otros signos neuropáticos y su influencia en las actividades de la vida diaria. Los estudios variaron en términos de intervención y fase de tratamiento. Sólo uno de los estudios demostró un resultado significativamente positivo a favor del grupo de intervención. Conclusión: Los estudios clínicos aleatorizados aportan escasa evidencia sobre los efectos positivos de la intervención fisioterapéutica sobre el dolor neuropático periférico inducido por los tratamientos del cáncer de mama
Subject(s)
Pain Management , Methods , Pharmacology , Polyneuropathies , Breast Neoplasms , Physical Therapy Modalities , Antineoplastic AgentsSubject(s)
Humans , Infant , Child, Preschool , Child , Polyneuropathies/diagnosis , Vision Disorders/diagnosis , Epilepsies, Partial/diagnosis , Xanthogranuloma, Juvenile/diagnosis , Neurofibromatoses/complications , Neurofibromatoses/diagnosis , Neurofibromatoses/diagnostic imaging , Meningioma/diagnosis , Intellectual Disability/diagnosis , Neurilemmoma/diagnosis , Diagnosis, DifferentialABSTRACT
El síndrome POEMS es un trastorno paraneoplásico raro y poco frecuente, que se presenta principalmente en la sexta década de la vida, caracterizado por el compromiso multisistémico con predominio de neuropatía desmielinizante. Abarca diversas y heterogéneas manifestaciones clínicas y su diagnóstico requiere un alto índice de sospecha. Se presentan dos casos de pacientes que consultaron por cuadros poco frecuentes en los que la pérdida de la fuerza orientó al acercamiento de una afectación multisistémica que concluyó con el diagnóstico de esta enfermedad(AU)
POEMS syndrome is a rare and infrequent paraneoplastic syndrome, which occurs mainly in the sixth decade of life, characterized by multisystem involvement with a predominance of demyelinating neuropathy, which encompasses diverse and heterogeneous clinical manifestations and whose diagnosis requires a high index of suspicion. We present two cases of patients who consulted due to unusual symptoms and whose loss of strength led to an approach due to multisystem involvement that concluded with the diagnosis of this disease(AU)
Subject(s)
Humans , Male , Female , Paraproteinemias , Polyneuropathies/epidemiology , POEMS Syndrome/diagnosis , Colombia , Endocrine System Diseases/epidemiologyABSTRACT
Hereditary transthyretin amyloidosis is a multisystemic autosomal dominant genetic disorder characterized by progressive distal sensory-motor polyneuropathy or restrictive cardiomyopathy, secondary to amyloid deposits. Its pathogenesis lies in the TTR gene mutation, and the Val50Met mutation is the most frequent. Patients have significant differences in the onset and severity of clinical presentation according to their country of origin. The diagnosis of this pathology is complex, even more in countries where it is not considered endemic. However, early suspicion and management are essential to improve survival and avoid unnecessary diagnostic and therapeutic strategies. We report a 69-year-old woman who presented a sensory-motor polyneuropathy, predominantly sensory, associated with distal neuropathic pain and bilateral vitritis. The history of her Italian father with polyneuropathy of unspecified etiology stood out. A vitreous biopsy identified amyloid substance deposits (congo red positive). These were also confirmed on a superficial peroneal nerve biopsy. During the etiological study of her polyneuropathy, an increased Kappa/Lambda index of 2.55 mg/L stood out. Therefore, light chain amyloidosis was suspected, and chemotherapy treatment was indicated without favorable response. After 10 years of progressive neurological and ophthalmological involvement, a genetic study confirmed the first case of late-onset hereditary transthyretin amyloidosis Val50Met with polyneuropathy in Chile.
Subject(s)
Humans , Female , Aged , Polyneuropathies/etiology , Polyneuropathies/genetics , Amyloid Neuropathies, Familial/complications , Amyloid Neuropathies, Familial/diagnosis , Amyloid Neuropathies, Familial/genetics , Prealbumin/genetics , MutationABSTRACT
RESUMEN INTRODUCCIÓN: El síndrome de Guillain-Barré (SGB) se ha asociado recientemente con la infección por SARS-CoV-2 y su vacunación. El objetivo de esta revisión es describir los datos sociodemográficos y la presentación clínica del SGB asociado con la infección y la vacunación contra covid--19. MATERIALES Y MÉTODOS: Se realizó una búsqueda sistemática en las bases de datos Medline, Embase y LILACS. Se incluyeron reportes de casos publicados entre los años 2021 y 2022. De los artículos seleccionados se extrajo edad, sexo, comorbilidades, laboratorio de la vacuna, tiempo de inicio de síntomas, manifestaciones clínicas, método diagnóstico, tratamiento recibido y desenlace. RESULTADOS: Se seleccionaron 93 artículos, en los que se reporta un total de 131 casos: 82 asociados con la infección por SARS-CoV-2 y 49 asociados con la vacunación contra el covid-19. La población más afectada fue el sexo masculino y se encontró entre los 31 y los 65 años. Las principales manifestaciones descritas fueron: paresia de extremidades, compromiso de la sensibilidad, arreflexia, compromiso de los pares craneales. DISCUSIÓN: El cuadro clínico del SGB presentó características similares a la presentación clásica. La disautonomía y la falla respiratoria son las principales complicaciones mortales de esta entidad. CONCLUSIÓN: El SGB se puede presentar de manera postinfecciosa o parainfecciosa. Se debe sospechar cuando se consulta por cuadro clínico de neuropatía desmielinizante con antecedentes de inmunización o síntomas concomitantes sugestivos de covid-19. Se necesitan más estudios para establecer una asociación entre el virus y el SGB.
ABSTRACT INTRODUCTION: Guillain-Barre syndrome (GBS) has recently been associated with SARS-CoV-2 infection and vaccination. The objective of this review is to describe the sociodemographic data and the clinical presentation of GBS associated with infection and vaccination against COVID-19. MATERIALS AND METHODS: A systematic search was performed in the Medline, Embase and LILACS databases. Case reports published in 2021-2022 are included. From the selected articles, age, sex, comorbidi-ties, vaccine brand, symptom onset time, clinical manifestations, diagnostic method, treatment received and outcome were extracted. RESULTS: 93 articles were selected, reporting a total of 131 cases: 82 associated with SARS-CoV-2 infection and 49 associated with vaccination against COVID-19. The most affected population was the male sex and was between 31 and 65 years old. The main manifestations described were: limb paresis, compromised sensitivity, areflexia, compromised cranial nerves. DISCUSSION: The clinical picture of GBS presented characteristics similar to the classic presentation. Dys-autonomia and respiratory failure are the main fatal complications of this entity. CONCLUSION: GBS can present in a postinfectious, parainfectious manner. It should be suspected when consulting for a clinical picture of demyelinating neuropathy with a history of immunization or concomitant symptoms suggestive of COVID-19. More studies are needed to establish an association between the virus and GBS.
Subject(s)
Polyneuropathies , Guillain-Barre Syndrome , Vaccines , COVID-19ABSTRACT
Objetivo: Diante da alta prevalência do Diabetes Mellitus, o estudo se propõe a identificar os fatores associados ao maior risco de desenvolver úlceras nos membros inferiores. Métodos: O trabalho foi exploratório-descritivo, transversal e com abordagem quantitativa. A amostra foi composta por pacientes com Diabetes acima de 18 anos de um serviço de saúde particular e um público. A coleta de dados ocorreu através de anamnese, exame físico e procura em prontuário. A análise estatística foi realizada pelo Programa SPSS 20.0. Resultados: Obteve-se 102 participantes no estudo, destes, 67,6% apresentaram critérios diagnósticos para Polineuropatia Simétrica Distal. Os fatores associados ao risco de ulceração foram: o envelhecimento, a maior duração da Diabetes, hipertensão, doença arterial periférica e a presença de sintomas típicos da Polineuropatia. Conclusão: É necessário investir na prevenção de úlceras em indivíduos com Diabetes através de educação em saúde e acompanhamento por profissionais da saúde (AU)
Objective: Given the high prevalence of Diabetes Mellitus, the study aims to identify the factors associated with a higher risk of developing ulcers in the lower limbs. Methods: The work was exploratory-descriptive, transversal and with a quantitative approach. The sample consisted of patients with Diabetes over 18 years of age from a private and a public health service. Data collection occurred through anamnesis, physical examination and search in medical records. Statistical analysis was perform using the SPSS 20.0 program. Results: 102 study participants were obtained, of wich 67,6% had diagnostic criteria for Distal Symmetric Polyneuropathy. Factors associated with the risk of ulceration were: aging, longer duration of diabetes, hypertension, peripheral arterial disease and the presence of typical symptoms of polyneuropathy. Conclusion: It is necessary to invest in the prevention of ulcers in individuals with Diabetes, through health education and monitoring by health professionals.Keywords: Diabetes Mellitus, Diabetic neuropathies, Polyneuropathies, Foot ulcer, Diabetic foot (AU)
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Aged, 80 and over , Polyneuropathies , Diabetic Foot , Diabetes Mellitus , Diabetic NeuropathiesABSTRACT
RESUMO: Objetivo: Diante da alta prevalência do Diabetes Mellitus, o estudo se propõe a identificar os fatores associados ao maior risco de desenvolver úlceras nos membros inferiores. Métodos: O trabalho foi exploratório-descritivo, transversal e com abordagem quantitativa. A amostra foi composta por pacientes com Diabetes acima de 18 anos de um serviço de saúde particular e um público. A coleta de dados ocorreu através de anamnese, exame físico e procura em prontuário. A análise estatística foi realizada pelo Programa SPSS 20.0. Resultados: Obteve-se 102 participantes no estudo, destes, 67,6% apresentaram critérios diagnósticos para Polineuropatia Simétrica Distal. Os fatores associados ao risco de ulceração foram: o envelhecimento, a maior duração da Diabetes, hipertensão, doença arterial periférica e a presença de sintomas típicos da Polineuropatia. Conclusão: É necessário investir na prevenção de úlceras em indivíduos com Diabetes através de educação em saúde e acompanhamento por profissionais da saúde. (AU)
ABSTRACT: Objective: Given the high prevalence of Diabetes Mellitus, the study aims to identify the factors associated with a higher risk of developing ulcers in the lower limbs. Methods: The work was exploratory-descriptive, transversal and with a quantitative approach. The sample consisted of patients with Diabetes over 18 years of age from a private and a public health service. Data collection occurred through anamnesis, physical examination and search in medical records. Statistical analysis was perform using the SPSS 20.0 program. Results: 102 study participants were obtained, of wich 67,6% had diagnostic criteria for Distal Symmetric Polyneuropathy. Factors associated with the risk of ulceration were: aging, longer duration of diabetes, hypertension, peripheral arterial disease and the presence of typical symptoms of polyneuropathy. Conclusion: It is necessary to invest in the prevention of ulcers in individuals with Diabetes, through health education and monitoring by health professionals. (AU)
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Aged, 80 and over , Polyneuropathies , Foot Ulcer , Diabetic Foot , Diabetes Mellitus , Diabetic NeuropathiesABSTRACT
@#The novel coronavirus disease 2019 (COVID-19) has created a global health impact to millions of people. There have been studies of COVID-19 patients manifesting with neurologic symptoms. Although the number of adult COVID-19 infections diagnosed with Guillain-Barré Syndrome (GBS) is increasing, the occurrence of cases in pediatric population remains limited or perhaps underreported. We report a rare case of an asymptomatic COVID-19 infection manifesting as acute progressive ascending polyneuropathy and hyporeflexia in a 16-year-old teen. The diagnosis of COVID-19 infection was confirmed by reverse transcription polymerase chain reaction for SARS-CoV-2 of oropharyngeal and nasopharyngeal swab specimens. Magnetic resonance imaging of the spine revealed abnormal enhancement of the cauda equina, including the dorsal and ventral roots. Electromyography and nerve conduction studies were compatible with an acute inflammatory demyelinating polyneuropathy subtype of GBS. Although lumbar puncture was not done, the clinical findings and electrodiagnostic tests were both consistent with GBS. The patient had improvement of both motor and sensory functions after completing the treatment of intravenous immunoglobulins. Neurologic manifestations of systemic illness especially in children during this time of pandemic warrants scrutiny, as these may mask a potentially dangerous and infectious ongoing COVID infection.
Subject(s)
COVID-19 , Guillain-Barre Syndrome , Polyneuropathies , Pediatrics , SARS-CoV-2ABSTRACT
The aim of this study is to compare the prevalence, severity, and symptoms of Distal Symmetrical Polyneuropathy (DSP) among adult patients with diabetes and those without diabetes in a primary care clinic. It was a cross-sectional comparative study involving 72 adults of between 40-60 years of age living with diabetes and 72 age-matched adults without diabetes. DSP was assessed with a biothesiometer device, and data analysis was performed using the SPSS Version 21 statistical software. The overall prevalence of neuropathy among the participants was 68.1% for those living with diabetes and 38.9% for the other group. Furthermore, 22.3% of the diabetes group had severe neuropathy compared with 8.3% of the other group. These differences were found to be statistically significant with p=0.001 (df = 2, X2 = 14.07). We reported higher prevalence and severity of DSP in those living with diabetes. We also found significant association between high VPT (≥25V) and presence of neuropathic symptoms thereby enhancing the use of the biothesiometer device in the diagnosis of adults with DSP in the primary care setting.
Subject(s)
Humans , Adult , Paresthesia , Severity of Illness Index , Polyneuropathies , Prevalence , Adult , Diabetes Mellitus, Type 2ABSTRACT
El accidente apídico implica un bajo riesgo de morir por reacciones agudas como anafilaxia. Es frecuente que se desconozcan otros riesgos como el hepático y el neurológico. Dentro de las complicaciones menos conocidas está la polineuropatía aguda conocida como Guillain- Barré. La causa más ampliamente descrita es la reacción cruzada entre IgE y la proteína básica de mielina. A continuación, se reporta el primer caso en América Latina sobre la asociación entre Guillain-Barré y accidente por picadura de abejas. En este caso, hay criterios de causalidad como el nexo temporal, la plausibilidad biológica y la coherencia con otros artículos reportados en la literatura médica.
Bee sting accident usually implies a low risk of dying from acute reactions such as anaphylaxis. Other risks such as liver and neurological risks are often unknown. Among the lesser-known complications caused by this type of accident is the acute polyneuropathy known as Guillain-Barré. The most widely described cause is the cross reaction between IgE and myelin basic protein. The article reports the first case in Latin America on the association between Guillain-Barré and a bee sting accident. In this case, there are causality criteria such as temporal link, biological plausibility, and consistency with other articles reported in the medical literature
O acidente elapídico implica um baixo risco de morte por reações agudas, como anafilaxia. Outros riscos, como hepáticos e neurológicos, são frequentemente desconhecidos. Entre as complicações menos conhecidas está a polineuropatia aguda conhecida como Guillain-Barré. A causa mais amplamente descrita é a reação cruzada entre a IgE e a proteína básica da mielina. A seguir, é relatado o primeiro caso na América Latina sobre a associação entre Guillain-Barré e um acidente com picada de abelha. Nesse caso, há critérios de causalidade como vínculo temporal, plausibilidade biológica e consistência com outros artigos relatados na literatura médica
Subject(s)
Humans , Animals , Guillain-Barre Syndrome , Polyneuropathies , Bees , Bites and Stings , Immunoglobulin E , Accidents , Cross Reactions , Death , Anaphylaxis , LiverABSTRACT
Colorectal cancer is one of the most common oncological diseases. Chemotherapy is usually recommended as an adjuvant treatment for stage-II, -III, and -IV tumors. Approximately 10% of the patients develop neuropathic pain after chemotherapy, and they may remain refractory despite the administration of drugs that are commonly used to treat neuropathic pain. Spinal cord stimulation is a good treatment option for neuropathic pain of the lower limbs, and it should be trialed in patients with chemotherapy-induced peripheral neuropathy. We report the case of a patient with oxaliplatin-induced neuropathy and neuropathic pain refractory to oral medication who was successfully treated by spinal cord stimulation.
Subject(s)
Humans , Female , Middle Aged , Polyneuropathies/surgery , Polyneuropathies/diagnosis , Polyneuropathies/chemically induced , Spinal Cord Stimulation/methods , Colorectal Neoplasms, Hereditary Nonpolyposis/epidemiology , Chemotherapy, Adjuvant , Peripheral Nervous System Diseases/therapy , Cancer PainABSTRACT
Introducción: La debilidad adquirida en la unidad de cuidados intensivos (DAUCI) compromete tanto a los músculos de las extremidades como el diafragma, asociándose con variables de resultado negativas. El objetivo del estudio fue describir las características epidemiológicas e incidencia de DAUCI en adultos con requerimiento de ventilación mecánica invasiva (VMI) mayor a 72 horas en un Hospital General de Agudos de la Ciudad de Buenos Aires. Método: Estudio de cohorte retrospectivo. Se incluyeron pacientes adultos con requerimiento de VMI por más de 72 horas en la Unidad de Cuidados Intensivos (UCI). Las principales variables de interés registradas fueron: incidencia de DAUCI, días de VMI, estadía y mortalidad tanto en UCI como hospitalaria. Resultados: Se incluyeron 262 pacientes de los cuales 87 (33,21%) intercurrieron con debilidad. No se establecieron diferencias estadísticamente significativas entre los pacientes con y sin DAUCI para las variables edad, motivo de ingreso a VMI, número de antecedentes personales y mortalidad tanto en UCI como hospitalaria. En el presente estudio se establecieron como factores de riesgo independiente al sexo femenino (OR: 1,98; IC 95%: 1,02 3,81), delirio (OR 8,4; IC 95%: 4,38-16,11) y días de VMI (OR: 1,05; IC 95%: 1,02-1,08). Conclusiones: El presente estudio nos permitió conocer la incidencia y las características epidemiológicas de los pacientes que presentan DAUCI en una UCI del sistema público de salud de Argentina. Se observó que el sexo femenino, los días de VMI y el delirio en UCI fueron factores de riesgo independiente para DAUCI.
Subject(s)
Humans , Polyneuropathies , Respiration, Artificial , Risk Factors , Intensive Care Units , MusclesABSTRACT
Introduction: Intensive care unit-acquired weakness (ICUAW) affects the muscles of the limbs and diaphragm; and is associated with negative outcome variables. The purpose of this study was to describe the epidemiological characteristics and incidence of ICUAW in adults requiring invasive mechanical ventilation (IMV) for more than 72 hours in a General Hospital for Acute Diseases in the City of Buenos Aires. Method: Retrospective cohort study. We included adult patients requiring IMV for more than 72 hours in the Intensive Care Unit (ICU). The main recorded variables of interest were: incidence of ICUAW, days of IMV, length of stay and mortality both in the ICU and in the hospital. Results: 262 patients were included in the study; 87 of them (33.21%) developed weakness. No statistically significant differences were established between patients with and without ICUAW regarding the variables of age, reason for admission to IMV, medical history and mortality both in the ICU and the hospital. In this study, the variables established as independent risk factors were: female gender (OR: 1,98; 95% CI: 1.02-3.81), delirium (OR 8.4; 95% CI: 4.38-16.11) and days of IMV (OR: 1.05; 95% CI: 1.02-1.08). Conclusions: This study allowed us to know the incidence and epidemiological characteristics of patients with ICUAW in an ICU of the public health system of Argentina. It was observed that female gender, days of IMV and delirium at the ICU were independent risk factors for ICUAW.
Subject(s)
Humans , Polyneuropathies , Respiration, Artificial , Risk Factors , Intensive Care Units , MusclesABSTRACT
RESUMEN La distrofia muscular de cinturas de las extremidades (LGMD, por sus siglas en inglés) incluye varios trastornos con etiologías heterogéneas. Se heredan en patrón autosómico recesivo o autosómico dominante y constituyen la cuarta causa genética más común de debilidad muscular, reportando una prevalencia de 1 en 20,000. Las manifestaciones clínicas son inespecíficas, pueden presentarse desde la primera infancia hasta la edad adulta, dependiendo del subtipo de la enfermedad y de la proteína afectada. El diagnóstico inicial se realiza mediante pruebas genéticas antes de obtener una biopsia muscular. Hasta la actualidad no hay tratamientos que modifiquen la evolución de la enfermedad. El propósito de la terapia es conservar la independencia funcional y tratar las complicaciones asociadas, manteniendo al máximo la calidad de vida.A continuación se reporta el caso de un paciente pediátrico, residente en Quito, Ecuador sin antecedentes patológicos ni familiares previos, con alteración de la motricidad fina progresiva dado por trastorno motor en manos, dedos en flexión, hipotrofia de eminencias tenar e hipotenar y atrofia de interóseos de manos, se realizan estudios en relación a neuropatía periférica distal con afectación de sensibilidad bilateral y simétrica, encontrando como única variante, cambios electromiográficos: polineuropatía crónica, sensitiva y motora de predominio axonal, (desmielinizante en menor grado), de grado marcado presumi-blemente de etiología hereditaria. El diagnostico final lo determinó estudio genético con mutación del gen TTN en relación con: Distrofia muscular de cinturas, tipo 2J (CINTURA ESCAPULAR DE PREDOMINIO DISTAL).
ABSTRACT Limb girdle muscular dystrophy (LGMD) includes several disorders with heterogeneous etiologies. They are inherited in an autosomal recessive or autosomal dominant pattern and constitute the fourth most common genetic cause of muscle weakness, reporting a prevalence of 1 in 20,000. The clinical manifestations are nonspecific, can begin from early childhood to adulthood depending on the subtype of the disease and the protein affected. The initial diagnosis is made by genetic testing before obtaining a muscle biopsy. To date there are no treatments that modify the evolution of the disease. The purpose of therapy is to preserve functional independence and treat associated complications, maintaining quality of life as much as possible.The following is the case of a pediatric patient, resident in Quito, Ecuador with no prior family or pathological history, with progressive fine motor disorder due to motor disorder in the hands, flexed fingers, hypotrophy of tenar and hypothenar eminences, and atrophy of interosseous hands, studies are performed in relation to distal peripheral neuropathy with bilateral and symmetrical sensitivity involvement, finding electromyographic changes as the only variant: chronic, sensitive and motor polyneuropathy with axonal predominance (demyelinating to a lesser degree), of marked degree presumably of hereditary etiology. The final diagnosis was determined by a genetic study with a mutation of the TTN gene in relation to: Girdle Muscular dystrophy, type 2J (DISTAL PREDOMINANT SCAPULAR GIRDLE).
Subject(s)
Humans , Male , Child , Muscular Dystrophies, Limb-Girdle , Genetics , Muscular Dystrophies , Polyneuropathies , Atrophy , Peripheral Nervous System DiseasesABSTRACT
RESUMO: Modelo do Estudo: Relato de caso. Importância do problema: No mundo, mais de três milhões de pessoas estão vivendo com deficiência física devido à hanseníase. O Brasil é o segundo país com o maior número de casos novos registrados.A magnitude e o alto risco de incapacidade mantêm a doença como problema de saúde pública. O diagnóstico de hanseníase em geral é simples. Porém, quadros com ausência de lesões cutâneas características, somente com alterações neurais, representam um desafio para o diagnóstico diferencial com outras doenças neurológicas. Comentários: Relatamos o caso de um paciente encaminhado ao serviço de neurologia com história clínica e eletroneuromiografia compatíveis com polineuropatia desmielinizante, sem qualquer lesão cutânea ao exame de admissão. O raciocínio clínico inicial foi direcionado para o diagnóstico das polineuropatias desmielinizantes inflamatórias adquiridas como Polineuropatia Desmielinizante Inflamatória Crônica (CIDP) e suas variantes. No entanto, após anamnese e exame físico detalhados, chamou a atenção a ausência do componente atáxico e a presença predominante de alterações sensitivas de fibra fina, espessamento de nervo e importante fator epidemiológico para hanseníase, motivando a suspeita e a in-vestigação desta enfermidade por meio da biópsia de nervo que foi sugestiva de hanseníase. Após três meses, em novo exame do paciente para biopsiar áreas de anestesia para reforçar o diagnóstico, observou-se o surgimento de extensas lesões levemente hipocrômicas no tronco e membros inferiores, cuja biópsia definiu o diagnóstico de hanseníase. (AU)
ABSTRACT: Study: Case report. Importance: Worldwide over three million people are living with disabilities due to leprosy. Brazil is the second country with the highest number of new cases registered. The magnitude and high risk of disability make the disease a public health problem. The diagnosis of leprosy can be simple. However, in the absence of skin lesions and with many possibilities of neurological impairment, diagnosis can become a challenge. Comments: We report the case of a patient referred to the neurology service with a clinical history and electrophysiological tests compatible with demyelinating polyneuropathy, without any skin lesion at admission examination. The initial clinical research was directed to the diagnosis of acquired inflammatory demyelinating polyneuropathies such as Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)and its variants. However, after anamnesis and detailed physical examination, the absence of the ataxic component and the predominant presence of sensory alterations of fine fiber, nerve thickening and important epidemiological factor for leprosy,led to the suspicion and investigation of this disease by nerve biopsy that was suggestive of leprosy. After three months, in a new patient examination "to perform a biopsy in areas of anesthesia" to reinforce the diagnosis, there was the appearance of extensive slightly hypochromic lesions in the trunk and lower limbs, whose biopsy defined the diagnosis of leprosy.(AU)
Subject(s)
Humans , Male , Adult , Polyneuropathies , Mononeuropathies , Diagnosis, Differential , Leprosy/diagnosis , Leprosy/therapy , Mycobacterium Infections , Mycobacterium lepraeABSTRACT
Se describe el caso de una mujer de 35 años que presenta polineuropatía desmielinizante inflamatoria crónica como compromiso neurológico en su diagnóstico inicial de lupus eritematoso sistémico (LES). Si bien el compromiso neurológico es de una prevalencia variable en lupus, la asociación que se describe no es frecuente y tiene importantes connotaciones en el tratamiento.
We described a 35 years old female, who developed Chronic inflammatory demyelinating polyneuropathy as neurologic commitment during the early diagnosis in Systemic Lupus Erithematosus (SLE). While the neuropsychiatric commitment has a variable prevalence in SLE, the association that we describe is infrequent and it has important concerns during its treatment.
Subject(s)
Polyneuropathies , Therapeutics , Diagnosis , Lupus Erythematosus, SystemicABSTRACT
El término 'porfiria' proviene del griego 'porphyra' y alude a un grupo heterogéneo de trastornos metabólicos causados por una deficiencia enzimática en la biosíntesis del grupo hemo. La causa de la porfiria intermitente aguda es la deficiencia de la enzima deaminasa del porfobilinógeno. Se presenta el caso de una mujer de 40 años que presentó dolor abdominal de 10 días de evolución, trastorno hidroelectrolítico grave debido a hiponatremia e hipopotasemia, taquicardia e hipertensión arterial sistémica persistentes, por lo cual fue sometida a una laparotomía en la que no se encontró ninguna afección de origen quirúrgico, A los siete días del examen inicial, la paciente desarrolló cuadriparesia flácida aguda y presentó una crisis convulsiva tónico-clónica generalizada. Los estudios neurofisiológicos evidenciaron una polineuropatía axonal mixta, y los valores de porfobilinógeno y porfirinas en orina eran elevados. Tras diagnosticarse porfiria intermitente aguda, esta se trató con hemina, lo que estabilizó los signos clínicos y normalizó el porfobilinógeno. La prevalencia de esta enfermedad es de 1 en 2.000 personas. Tiene un patrón de herencia autosómico dominante y se manifiesta principalmente en mujeres con edades entre los 20 y los 40 años. La enfermedad cursa con síntomas neurológicos y viscerales, y se trata con la administración de hemina y dextrosa, evitando las soluciones hipotónicas por el riesgo de exacerbar la hiponatremia.
The term 'porphyria' comes from the Greek 'porphyra'. It refers to a heterogeneous group of metabolic disorders caused by the enzymatic deficiency in the biosynthesis of the heme group. Acute intermittent porphyria is caused by a deficiency of the porphobilinogen deaminase enzyme. A 40-year-old woman presented with abdominal pain for ten days (which required laparotomy that evidenced no surgical pathology), severe hydroelectrolytic disorder due to hyponatremia and resistant hypokalemia, persistent tachycardia and hypertension. Seven days later, she developed acute flabby quadriparesis and presented a single generalized tonic-clonic convulsive crisis. Neurophysiological studies supported mixed axonal polyneuropathy and urine results of porphobilinogen and porphyrins were elevated. After acute intermittent porphyria was diagnosed, hemin was administered, which stabilized the patient's clinical signs and normalized the porphobilinogen. The prevalence of this entity is 1 in 2,000 people. It is an autosomal dominant disease, which affects mainly women between 20 and 40 years of age. This entity manifests with neurological and visceral symptoms. Management consists of hematin and dextrose administration avoiding hypotonic solutions because of the risk of exacerbating hyponatremia.
Subject(s)
Porphyria, Acute Intermittent , Polyneuropathies , Seizures , Abdominal Pain , HyponatremiaABSTRACT
El síndrome de Guillain-Barré constituye una entidad de etiología diversa, que se caracteriza por debilidad muscular aguda, simétrica, ascendente y progresiva, y es una de las polineuropatías adquiridas más frecuentes en la infancia. Entre los diagnósticos diferenciales, deben considerarse las neuropatías producidas por metales pesados, mercurio y plomo, y metaloides, como el arsénico, plaguicidas organofosforados y el tetracloruro de carbono.Se presenta a un paciente de 14 años con diagnóstico de síndrome de Guillain-Barré sin respuesta al tratamiento convencional con gammaglobulina. Considerando otras etiologías, se sospechó neuropatía producida por metales pesados, y se confirmó intoxicación por mercurio.El objetivo de esta presentación es concientizar a los pediatras acerca del impacto de los tóxicos ambientales en la salud infantil para realizar un diagnóstico precoz pesquisando datos clave a través de la historia clínica ambiental
Guillain-Barré syndrome is an entity of diverse etiology, characterized by acute, symmetric, ascending and progressive muscle weakness, being one of the most frequent acquired polyneuropathies in childhood. Neuropathies produced by heavy metals, mercury and lead, and metalloids, such as arsenic, organophosphorus pesticides and carbon tetrachloride, should be considered among the differential diagnoses.We present a 14-year-old patient with a presumptive diagnosis of Guillain-Barré syndrome without response to conventional treatment with gamma globulin. Considering other etiologies, heavy metal neuropathy was suspected, and mercury poisoning was confirmed.The aim of this presentation is to make pediatricians aware about the impact of environmental toxic agents on children's health in order to make an early diagnosis by researching key data through the environmental clinical history.
Subject(s)
Humans , Male , Adolescent , Mercury Poisoning, Nervous System/diagnosis , Polyneuropathies , Heavy Metal Poisoning, Nervous System/drug therapy , Environmental Exposure/adverse effectsABSTRACT
BACKGROUND@#Multifocal motor neuropathy (MMN), Lewis-Sumner syndrome (LSS), and many chronic inflammatory demyelinating polyradiculoneuropathies (CIDPs) are representative of acquired multifocal polyneuropathy and are characterized by conduction block (CB). This retrospective study aimed to investigate the demyelinating distribution and the selective vulnerability of MMN, LSS, and CIDP with CB (CIDP-CB) in nerves.@*METHODS@#Fifteen LSS subjects (107 nerves), 24 MMN subjects (176 nerves), and 17 CIDP-CB subjects (110 nerves) were included. Their clinical information was recorded, blood and cerebrospinal fluid tests were conducted, and nerve conductions of the median, ulnar, radial, peroneal, and tibial nerves were evaluated. CB, temporal dispersion, distal motor latency (DML), and F-wave latency were recorded, and nerve conduction velocity, terminal latency index, and modified F-wave ratio were calculated.@*RESULTS@#CB was more likely to occur around the elbow in CIDP-CB than in MMN (78.6% vs. 6.8%, P < 0.01) but less likely to occur between the wrist and the elbow than in LSS (10.7% vs. 39.3%, P < 0.05). Tibial nerve CB was most frequently observed in MMN (47.4%, P < 0.05). CIDP-CB was characterized by a prolonged DML in all nerves, and slow motor nerve velocity of the upper limb was significant when CB nerves were excluded (P < 0.05).@*CONCLUSIONS@#We report the different distributions of segmental and diffuse demyelination of the ulnar and tibial nerves in LSS, MMN, and CIDP-CB. These distinct distributions could help in differentiating among these conditions.
Subject(s)
Humans , Neural Conduction , Peripheral Nerves , Polyneuropathies , Polyradiculoneuropathy, Chronic Inflammatory Demyelinating , Retrospective StudiesABSTRACT
@#As far as we are aware of, we report the fi rst documented case of a 51-year-old Filipino female with multifocal motor neuropathy who presented with asymmetric weakness, unusually in the lower extremity, and confi rmed with anti-GM1 antibody. The treatment of intravenous immunoglobulin with a total dose of 2 g/kg was initiated and repeated every two months with noticeable improvement based on electromyography and nerve conduction studies. Apart from the unreported Filipino case of multifocal motor neuropathy substantiated by features in clinical, electrophysiologic, antibody testing and response to immunotherapy, the unique occurrence in a female and involving the lower extremity in this rare disorder deserve this present documentation. Multifocal motor neuropathy is seen more in males with a ratio of 2.7:1. It is described as a pure motor disease without sensory defi cits and predominantly affects the upper extremities. The diagnosis for the disorder is supported by determination of ganglioside GM1 antibodies.