ABSTRACT
Introducción: La neuropatía motora multifocal con bloqueos de la conducción (NMMBC) es una enfermedad crónica inmunomediada, con un compromiso exclusivo de los nervios motores. Es importante diferenciarla de otras enfermedades que cursan con afectación motora, debido a que ésta es una enfermedad tratable. Cuadro clínico: Paciente varón de 56 años, con compromiso motor progresivo en el miembro superior del lado derecho desde el año 2016. El examen neurofisiológico demostró la presencia de múltiples bloqueos de la conducción nerviosa. Los anticuerpos antigangliósidos fueron negativos. Se indicó tratamiento con inmunoglobulina endovenosa en varios ciclos, con mejoría progresiva del cuadro. Discusión: Se discute el plan diagnóstico clínico y electrofisiológico, los diagnósticos diferenciales, las hipótesis fisiopatológicas y el tratamiento de esta enfermedad de rara ocurrencia
Introduction: Multifocal motor neuropathy with conduction blocks (NMMBC) is a chronic immunemediated disease that exclusively involves the motor nerves. It is important to differentiate it from other diseases that present with motor involvement, because this is a treatable disease. Clinical picture: A 56-year-old male patient, with progressive motor involvement in the right upper limb since 2016. A neurophysiological examination revealed multiple nerve conduction blocks. Antiganglioside antibodies were negative. Treatment with intravenous immunoglobulin was indicated for several cycles with progressive improvement of the condition. Discussion: Clinical and electrophysiological diagnostic plans, differential diagnoses, pathophysiological hypotheses, and treatment of this rare disease are discussed
Subject(s)
Humans , Male , Middle Aged , Immunoglobulins/therapeutic use , Muscular Atrophy/immunology , Muscle Weakness/therapy , Diagnosis, Differential , Neural Conduction/immunologyABSTRACT
Las neuropatías agrupan un gran número de patologías de nervio periférico; estas pueden ser adquiridas o hereditarias, de origen sistémico o restringidas a un número de nervios. Las neuropatías son causa de dolor e incapacidad y requieren un manejo multidisciplinar para mejorar la calidad de vida de los pacientes. Dentro de ellas tenemos la neuropatía motora multifocal (NMM), también denominada 'neuropatía motora multifocal con bloqueo de conducción' (NMMCB), la cual es una neuropatía adquirida, inflamatoria, poco frecuente, caracterizada por debilidad en las extremidades, sin pérdida sensorial, progresiva y asimétrica. Se presenta además un bloqueo persistente de la conducción nerviosa que afecta las fibras motoras de forma selectiva.
Neuropathies group a large number of peripheral nerve pathologies; these can be acquired or hereditary, of systemic origin or restricted to a number of nerves. Neuropathies cause pain and disability and require multidisciplinary management to improve the quality of life of patients. Among them we have multifocal motor neuropathy (MMN), also called 'multifocal motor neuropathy with conduction block' (MMPNB), which is an acquired, inflammatory, rare neuropathy, characterized by weakness in the extremities, without sensory loss, progressive and asymmetric. There is also a persistent nerve conduction block that selectively affects motor fibers.
Subject(s)
Humans , Male , Adult , Hereditary Sensory and Motor Neuropathy , Nervous System MalformationsABSTRACT
OBJETIVO: Realizar uma revisão sobre o pé cavo, sua fisiopatologia, avaliação clínica, diagnósticos diferenciais com ênfase na doença de Charcot-Marie-Tooth e tratamento. MÉTODO: Revisão não sistemática de artigos abordando a fisiopatologia do pé cavo, avaliação clínica, diagnósticos diferenciais e tratamento. RESULTADOS E DISCUSSÃO: Foram utilizados 33 artigos de língua inglesa e 02 artigos em português para a confecção desta revisão. CONCLUSÃO: O pé cavo é geralmente secundário a doenças neurológicas, em especial a doença de Charcot-Marie-Tooth e raramente é originado por doenças não neurológicas. O diagnóstico etiológico do pé cavo permite um melhor tratamento, cirúrgico ou não, com adequada orientação ao paciente quanto ao prognóstico e eficácia da terapia.
OBJECTIVE: We realize a review about cavus foot, discussing pathophysiology, clinical evaluation, differential diagnosis with emphasis on Charcot-Marie-Tooth Disease and treatment. METHOD: We perform a non-systematic review of articles about cavus foot pathophysiology, physical examination, etiology and treatment. RESULTS AND DISCUSSION: We used 33 articles in english and 02 articles in portuguese for this review. CONCLUSION: The cavus foot is mostly a consequence of neurological etiologies, in particular Charcot-Marie-Tooth disease and rarely is caused by non-neurological diseases. The correct diagnosis allows better treatment, conservative or surgical, with appropriate guidance to patients in terms of prognosis and therapy effectiveness.
Subject(s)
Humans , Charcot-Marie-Tooth Disease/complications , Talipes Cavus/surgery , Talipes Cavus/diagnosis , Talipes Cavus/physiopathology , Review Literature as Topic , Diagnosis, Differential , Mobility Limitation , Talipes Cavus/etiologyABSTRACT
Introducción: el diagnóstico y el tratamiento temprano del síndrome de Guillain-Barré (SGB) es importante para reducir la morbimortalidad de la enfermedad, por lo cual es capital conocer las manifestaciones clínicas iniciales y el rendimiento de las pruebas diagnósticas. Objetivos: describir las características de los pacientes menores de 15 años hospitalizados por SGB en el Centro Hospitalario Pereira Rossell entre el 1 de enero de 2000 al 31 de diciembre de 2011. Método: estudio descriptivo, retrospectivo, en base a revisión de historias clínicas. Resultados: se incluyeron 82 pacientes, 52 eran de sexo masculino. La mediana de edad fue de 6 años. 59 pacientes requirieron internación en unidad de cuidados intensivos. El síntoma más frecuente fue la paresia de miembros inferiores (80 pacientes), seguido del dolor en miembros inferiores (64 pacientes). El 29% de nuestra serie se presentó clínicamente como variantes atípicas de SGB. La mitad de los pacientes presentó un Hughes 4 en el nadir de la enfermedad. A 77 pacientes se les realizó estudio del líquido cefalorraquídeo, reiterándose en 17 pacientes, mostrando disociación albúmino citológica en 19/53 (36%) de los estudios realizados en los primeros 7 días de evolución, y en 39/41 (95%) de los estudios realizados luego de los 7 días. Conclusiones: se destacan las diversas manifestaciones clínicas del SGB y la baja sensibilidad del estudio del líquido cefalorraquídeo en la primera semana de evolución.
Introduction: early diagnosis and treatment of Guillain-Barré is important to reduce morbimortality of the condition and thus, it is essential to learn about initial clinical presentations and the yield of diagnostic tests. Objectives: to describe the characteristics of patients under 15 years of age who were hospitalized due to Guillain-Barré syndrome at the Pereira Rossell Hospital Center from January 1, 2000 through December 31, 2011. Method: descriptive, retrospective study based on a review of the clinical records. Results: eighty two patients were included, 52 of them were male. Fifty nine patients required to be admitted to the intensive care unit. The most frequent symptom was paresia of the lower limbs (80 patients), followed by pain in the lower limbs (64 patients). Twenty nine percent of our series evidenced clinical presentations that were not typical of Guillain-Barré syndrome. Half of the patients presented disease severity at nadir grade 4 by Hughes. Seventy seven patients underwent a study of the spinal fluid, and this was repeated in 17 patients, what showed albuminocytologic dissociation in 19 out of 53 (36%) of the tests performed in the first seven days of evolution, and in 39 out of 41 (95%) of the tests performed after seven days. Conclusions: we point out the diverse clinical presentations of the Guillain-Barré syndrome and the low sensitivity of the spinal fluid in the first week of evolution.
Subject(s)
Humans , Male , Guillain-Barre Syndrome/diagnosis , Uruguay , Medical Records , Guillain-Barre Syndrome/therapy , Diagnosis, Differential , Electrophysiology , HistocytochemistryABSTRACT
We report four Brazilian siblings with Autosomal Dominant Hereditary Motor Sensory Neuropathy with Proximal Dominant Involvement (HMSN-P), a rare form of HMSN, that was characterized by proximal dominant muscle weakness and atrophy onset after the age of 30 years, fasciculation, arreflexia and sensory disturbances with autosomal dominant inheritance. Electrophysiological study and sural nerve biopsy were in the accordance with axonal sensory motor polyneuropathy and laboratorial analysis disclosed serum lipids and muscle enzymes abnormalities. Our report is the first done by a group outside Japan, where the disease initially seemed to be restricted and stressed the phenotypic variability from the original report.
Relatamos os casos de quatro irmãos brasileiros com Neuropatia Sensitivo Motora Hereditária com Envolvimento Proximal Dominante (HMSN-P), uma forma rara de HMSN caracterizada por fraqueza muscular de predomínio proximal e atrofia de instalação após os 30 anos, fasciculações, arreflexia, distúrbios sensitivos e padrão de herança autossômica dominante. Os estudos eletrofisiológicos e de biópsia do nervo sural confirmaram o diagnóstico de polineuropatia sensitivo-motora com padrão lesional axonal. Laboratorialmente foram constatadas anormalidades séricas no metabolismo lipídico e enzimas musculares. Nosso relato é o primeiro feito por um grupo fora do Japão, onde a doença parecia restrita até então e ressalta a variabilidade fenotípica apresentada nos casos Brasileiros.