Prevalencia de Neuropatía periférica de pequeñas fibras asociada a retinopatía en diabéticos tipo 2: Uso prueba biomédica por imagen termográfica

Introducción: La neuropatía periférica diabética de fibras delgadas (NPD-fd) son diagnosticadas por pruebas biomédicas vasomotoras cuyo fundamento es la alteración de la termorregulación de la piel. Objetivos: Calcular la prevalencia y los factores asociados a NPD-fd usando imagen termográfica (IT). Métodos: Se realizó un estudio observacional, transversal analítico en una unidad especializada en el ámbito de la atención primaria, en el que se avaluó pacientes con diabetes mellitus tipo 2 mediante pruebas neurológicas periféricas como la sensibilidad táctil y vibratoria para el diagnóstico de NPD de fibras gruesas (NPDfg) y la termorregulación pasiva por IT para la NPD-fd . Ésta última se realizó en la planta del pie utilizando una cámara termográfica en la consulta ambulatoria, evaluando 5 mediciones termográficas plantares por sujeto. Luego, la asociación entre diabéticos con y sin NPD-fd fue analizada respecto a género, edad, tiempo de enfermedad diabética, tipo de tratamiento diabético, hipertensión, retinopatía, nefropatía, dieta baja en carbohidratos, actividad física, síntoma dolor y IMC. Resultados: Se estudiaron 304 pacientes con diabetes mellitus tipo 2, una edad promedio de 65.07±11.39 años, en su mayoría de sexo masculino, encontrándose una NPD-fg en 14.8 %, NPD-fd en 27.3 % y ambas NPD en 34.9%. La asociación de la NPD-fd fue únicamente con el factor de la presencia de retinopatía (α=0,02, C= 0.18). Conclusiones: Se encontró una alta prevalencia de NPD-fd usando una imagen termográfica que estuvo asociado a la presencia de retinopatía.

Introduction: Small fibers diabetic peripheral neuropathy (DPN-sf) are diagnosed by biomedical vasomotor tests whose foundation is altered skin thermoregulation. Objectives: To estimate the prevalence and factors associated with DPN-sf using thermographic imaging (TI). Methods: An observational, cross-sectional, analytical study was performed in a specialized unit in the primary care setting, in which patients with type 2 diabetes mellitus were assessed by peripheral neurological tests such as tactile and vibratory sensitivity for the diagnosis of large fibers peripheral neuropathy (DPN-lf) and passive thermoregulation by TI for DPN-sf .The latter was performed on the sole using a thermographic camera in the outpatient clinic, evaluating 5 plantar thermographic measurements per subject. Then, the association between diabetics with and without DPN-sf was analyzed concerning gender, age, time of diabetic disease, type of diabetic treatment, hypertension, retinopathy, nephropathy, low carbohydrate diet, physical activity, pain symptom, and BMI. Results: 304 patients with type 2 diabetes mellitus were studied, mean age of 65.07±11.39 years, mostly male, finding DPN-lf in 14.8 %, DPN-sf in 27.3 %, and both NPD in 34.9%. The association of DPN-sf was only with the factor of the presence of retinopathy (α=0.02, C= 0.18). Conclusions: We found a high prevalence of DPN-sf using thermographic imaging that was associated with the presence of retinopathy.

Neuropatías periféricas, un enfoque multidimensional y práctico de una compleja condición / Peripheral neuropathies, a multidimensional and practical approach to a complex condition

Resumen Introducción: las neuropatías periféricas comprenden una amplia gama de entidades que afectan uno o múltiples nervios periféricos en cualquiera de sus categorías funcionales. Métodos: revisión de la literatura sobre la temática, mediante la búsqueda de artículos en las bases de datos Pubmed y Google Scholar publicadas en los últimos 21 años, sin restricción idiomática, excluyendo estudios descriptivos y reportes de caso. Resultados: las neuropatías periféricas tienen una prevalencia del 2 % al 3 %, pueden ser causadas por etiologías infecciosas, enfermedades inflamatorias, inmunológicas, trastornos neoplásicos, exposición a tóxicos, fármacos y deficiencias nutricionales. El diagnóstico depende del juicio clínico. La aplicación de estudios de laboratorios y electrodiagnóstico pueden clasificar adecuadamente estas entidades. El tratamiento depende de la entidad subyacente y debe incluir un enfoque multimodal. Conclusiones: establecer estrategias de prevención, detección y tratamiento temprano permite una potencial recuperación y disminuye los costos para el sistema de salud.

Abstract Introduction: peripheral neuropathies comprise a wide range of entities affecting one or multiple peripheral nerves in any of their functional categories. Methods: review of the literature on the subject, by searching for articles in Pubmed and Google Scholar databases published in the last 21 years, without language restriction, excluding descriptive studies and case reports. Results: peripheral neuropathies have a prevalence of 2 % to 3 %, and can be caused by infectious etiologies, inflammatory diseases, immunological, neoplastic disorders, exposure to toxins, drugs and nutritional deficiencies. Their diagnosis depends on clinical judgment. The application of laboratory and electrodiagnostic studies can adequately classify these entities. Treatment depends on the underlying entity and should include a multimodal approach. Conclusions: establishing strategies for prevention, early detection and treatment allows for potential recovery and decreases costs for the health system.

Sarcopenia, neuropatía periférica y enfermedad arterial periférica en pacientes con diabetes mellitus sometidos a hemodiálisis / Sarcopenia, peripheral neuropathy, and peripheral arterial disease in patients with diabetes mellitus under hemodialysis

Resumen Introducción: La sarcopenia se caracteriza por pérdida de fuerza y masa muscular. Los pacientes con diabetes mellitus que se encuentran bajo tratamiento en hemodiálisis tienen disminución de actividad física y cambios en su ingestión alimentaria, lo que propicia también la presencia de sarcopenia; por otro lado, la neuropatía periférica y enfermedad arterial periférica aparecen comúnmente como complicaciones crónicas de la diabetes mellitus. Material y métodos: Se realizó un estudio transversal, observacional, en pacientes con diabetes mellitus y hemodiálisis. Para la evaluación de la sarcopenia se midió fuerza muscular, rendimiento físico y cantidad de masa muscular. Se midió fuerza muscular con dinamómetro, mientras que el rendimiento físico se evaluó con el tiempo en segundos de marcha con cronómetro, la cantidad de músculo de obtuvo utilizando una báscula con bioimpedancia. Se consideró sarcopenia severa cuando existía baja fuerza y cantidad muscular además de bajo rendimiento físico. La neuropatía periférica se evaluó explorando la sensibilidad a la presión y el tacto con el monofilamento de Semmes-Weinstein y sensibilidad profunda con un diapasón de 128 Hz. El índice tobillo-brazo fue la medición tomada para la clasificación de enfermedad arterial periférica. Resultados: El análisis final se realizó con 33 pacientes. Con un tiempo en hemodiálisis de 3,57 ± 2,56 años. La prevalencia de sarcopenia severa y sarcopenia fue de 90,8% y la de pre-sarcopenia de 9% del total de los pacientes; por otro lado, se encontró al 78,1% los pacientes con pérdida de la sensibilidad profunda, mientras que el porcentaje de los pacientes con pérdida de la sensibilidad a la presión y al tacto fue de 54,5%. Se encontró correlación entre los parámetros de sarcopenia y el tiempo de evolución de la insuficiencia renal y la edad. Conclusión: La sarcopenia se presenta, en sus diferentes etapas, en prácticamente todos los pacientes con diabetes mellitus sometidos a hemodiálisis; existe relación con la edad del paciente y el tiempo de hemodiálisis.

Abstract Introduction: Sarcopenia is characterized by loss of strength and muscle mass. Patients with diabetes mellitus who are under hemodialysis treatment show decreased physical activity and changes in their food intake, which also leads to the presence of sarcopenia. On the other hand, peripheral neuropathy and peripheral arterial disease commonly appear as chronic complications of diabetes mellitus. Methods: A cross-sectional, observational study was carried out in diabetes mellitus patients on hemodialysis. For the assessment of sarcopenia, muscle strength, physical performance and muscle mass percentage were measured. Muscle strength was calculated with a dynamometer, while physical performance was evaluated in seconds by means of a walk test with a stopwatch; muscle mass percentage was obtained using a scale with bioelectrical impedance. Sarcopenia was considered severe when there was low muscle strength and percentage in addition to low physical performance. Peripheral neuropathy was assessed by exploring touch and pressure sensibility with the Semmes-Weinstein monofilament test and deep sensibility with a 128 Hz tuning fork. The ankle-brachial index was the measurement taken for the peripheral arterial disease classification. Results: The final analysis was performed with 33 patients, whose time on hemodialysis was 3.57 ± 2.56 years. The prevalence of severe sarcopenia and sarcopenia was 90.8% and that of pre-sarcopenia was 9% of all patients. On the other hand, 78.1% were found to be patients with loss of deep sensibility, while the percentage of patients with loss of sensibility to pressure and touch was 54.5%. A correlation was found between the sarcopenia parameters and the time of evolution of renal failure and age. Conclusion: Sarcopenia occurs, in its different stages, in practically all diabetes mellitus patients undergoing hemodialysis; there is a relationship with the patient's age and hemodialysis time.

Neuropatía Periférica en la enfermedad de Parkinson / Peripheral Neuropathy in Parkinsons disease

RESUMEN La enfermedad de Parkinson es una entidad neurodegenerativa con alteraciones principalmente extrapiramidales, del sistema nervioso autónomo y, en etapas finales, alteraciones cognitivas y neuropsiquiátricas. Desde 1976 se reconocen además síntomas neurosensoriales dependientes del sistema nervioso periférico, presentes en casi la mitad de los pacientes y que preceden incluso a los síntomas motores. Los síntomas sensitivos fueron inicialmente atribuidos a distonías o a niveles indebidos de levodopa en ausencia de medicación apropiada; sin embargo, estudios recientes sugieren una etiología intrínseca a la propia enfermedad. Se reconocen tres formas de presentación: polineuropatía crónica (la más común), aguda y subaguda. La clínica de la polineuropatía es concurrente con la de la enfermedad de Parkinson y el diagnóstico es básicamente clínico, aun cuando se cuenta con el apoyo de la electromiografía y de la velocidad de conducción nerviosa, cuya normalidad no descartaría a esta entidad. El manejo actual está basado en la presunción etiológica, por lo que la reposición de vitaminas como la B12, B1 y folatos puede considerarse como parte del mismo. La etiología, el pronóstico y la fisiopatología son aún temas de debate y requieren, por lo tanto, más investigaciones.

SUMMARY Parkinson´s disease is a neurodegenerative entity with predominant extrapyramidal and dysautonomic features and, in the final stages, cognitive and neuropsychiatric manifestations. Since 1976, the involvement of the peripheric nervous system has been recognized, mainly through neurosensorial symptoms affecting almost half of the Parkinson patients, even before the onset of motor symptoms. Initially, these symptoms were attributed to dystonia or the use of levodopa in the absence od medications; however, recent studies suggest an intrinsic etiology in idiopathic Parkinson´s disease. Chronic (the most frequently described), subacute and acute polyneuropathy are the main clinical forms. The sensory symptoms coexist with those of Parkinson´s disease. The diagnosis is essentially based on a clinical examination supported by electromyography and tests of neuro-conduction velocity whose normality does not rule out this entity, however. Its management depends on the etiological assumptions, and includes the eventual use of vitamin B12, B1 and folates replacement therapy. The etiology, the prognosis and the physiopathology are still topics of debate whose clarification requires further research.

The neurology behind three wounded French artists during the great world war / A neurologia por trás de três artistas franceses feridos durante a grande guerra mundial

Abstract A unique association joins Guillaume Apollinaire, Blaise Cendrars and Louis Ferdinand Céline. Besides being great exponents of French literature, they were all neurologically wounded during the First World War. Apollinaire had a traumatic brain injury, Cendrars developed phantom limb neuropathic pain and Céline presented radial nerve paralysis. There is quite an evidence that supports that their artistic output was also influenced by acquired neurological conditions during the war. The examples of these three French authors reveal the surprising intimacy Neurology can share with art and history.

Resumo Uma associação única une Guillaume Apollinaire, Blaise Cendrars e Louis Ferdinand Céline. Além de serem grandes expoentes da literatura francesa, todos eles foram feridos neurologicamente durante a Primeira Guerra Mundial. Apollinaire sofreu traumatismo cranioencefálico, Cendrars desenvolveu dor neuropática do membro fantasma e Céline apresentou paralisia do nervo radial. Há bastantes evidências que sustentam que a sua produção artística também foi influenciada pelas condições neurológicas adquiridas durante a guerra. Os exemplos desses três autores franceses revelam a surpreendente intimidade que a neurologia pode compartilhar com a arte e a história.

Prevalencia de Neuropatía Periférica en una Unidad de Diabetes / Prevalence of Peripheral Neuropathy in a Diabetes Unit / Prevalência de neuropatia periférica em uma unidade de diabetes

Resumen: La principal complicación crónica de la diabetes mellitus es la neuropatía, en particular la polineuropatía diabética. El objetivo de este estudio fue evaluar la prevalencia de polineuropatía y su asociación a factores de riesgo y complicaciones crónicas en una unidad de diabetes. En una población de 81 pacientes diabéticos, se encontró una prevalencia de polineuropatía de 34.6%. Es más frecuente y severa en la población de DM2, y se asoció con mayor tiempo de evolución de la enfermedad y complicaciones microangiopáticas. La polineuropatía sintomática predominó en el sexo femenino. Se concluye que la población diabética debe ser sometida a screening oportuno de polineuropatía.

Abstract: The main chronic complication of diabetes mellitus is neuropathy, in particular diabetic polyneuropathy. The objective of this study was to evaluate the prevalence of polyneuropathy and its association with risk factors and chronic complications in a diabetes unit. In a population of 81 diabetic patients, a polyneuropathy prevalence of 34.6% was found. It is more frequent and severe in the T2DM population, and was associated with longer disease progression and microangiopathic complications. Symptomatic polyneuropathy predominated in the female sex. It is concluded that the diabetic population should undergo timely screening for polyneuropathy.

Resumo: A principal complicação crônica do diabetes mellitus é a neuropatia, em particular a polineuropatia diabética. O objetivo deste estudo foi avaliar a prevalência de polineuropatia e sua associação com fatores de risco e complicações crônicas em uma unidade de diabetes. Em uma população de 81 pacientes diabéticos, foi encontrada uma prevalência de polineuropatia de 34,6%. É mais frequente e grave na população com DM2 e esteve associada a maior progressão da doença e complicações microangiopáticas. A polineuropatia sintomática predominou no sexo feminino. Conclui-se que a população diabética deve ser submetida a uma triagem oportuna da polineuropatia.

Neuropatía periférica en tres miembros de una familia tras intoxicación aguda con monóxido de carbono: reporte de caso / Peripheral neuropathy in three family members after acute carbon monoxide poisoning: A case report

La neuropatía periférica es una complicación presente en menos del 5 % de los casos de intoxicación por monóxido de carbono. El presente artículo describe las características clíni- cas de tres pacientes que acudieron con síntomas de lesión de nervio periférico tras estar expuestos a un incendio. Las variaciones clínicas incluyeron debilidad de miembros inferiores, parestesias y dolor tipo ardor. Se usaron estudios de electrodiagnóstico a los 14 días del evento, los cuales mostraron cambios no específicos. Al año del evento, uno de los pacientes confirmó lesión desmielinizante y axonal de nervio periférico. La presencia de signos y síntomas en conjunto con el antecedente de inhalación de humo, establecen el nexo etiológico con la intoxicación por monóxido de carbono. Este caso demuestra la importancia de considerar la intoxicación por monóxido de carbono como causa de neuropatía periférica. El diagnóstico debe fundamentarse en una historia clínica completa y puede apoyarse de electrodiagnóstico

Sensory multiple mononeuropathy induced by pravastatin use: from a case report to literature's review / Mononeuropatia múltipla sensitiva induzida pelo uso de pravastatina: de um relato de caso à revisão de literatura

Statins are frequently prescribed in clinical practice for their proven efficacy in prevention of cardiovascular and cerebrovascular diseases. Despite the recognized beneficial effects of this class of drugs, in recent years, many studies published in medical literature have shown a wide range of adverse effects as a consequence of this therapy, including the risk of peripheral neuropathy. The purpose of this article is to report a case in which clinical features consistent with multiple mononeuropathy probably secondary to use of pravastatin were observed. The case report is followed by a review of the relevant literature.

As estatinas são frequentemente prescritas na prática clínica por sua comprovada eficácia na prevenção de doenças cardiovasculares e cérebrovasculares. Apesar dos reconhecidos efeitos benéficos dessa classe medicamentosa, nos últimos anos, diversos estudos publicados na literatura médica vem evidenciando uma ampla variedade de efeitos colaterais como consequência desta terapia, incluindo o risco de neuropatias periféricas. O objetivo deste artigo é relatar um caso no qual foram observadas manifestações clínicas compatíveis com o diagnóstico de mononeuropatia múltipla sensitiva, provavelmente secundária ao uso de pravastatina. O relato de caso é acompanhando de uma revisão de dados pertinentes da literatura.

Función de la amiloidosis en la neuropatía periférica de los pacientes con anemia drepanocítica / Function of amyloidosis in peripheral neuropathy of patients with sickle cell anemia

Introducción: El estado inflamatorio que acompaña la anemia drepanocítica puede asociarse a amiloidosis sistémica, complicación que ha sido comunicada en esta enfermedad, que también puede afectar los nervios periféricos por el proceso vaso-oclusivo crónico en esta. Objetivos: Evaluar la función de la amiloidosis en el desarrollo de la neuropatía periférica en un grupo de pacientes con hemoglobinopatía SS. Métodos: Para determinar si la amiloidosis participa en el desarrollo de neuropatía periférica en los pacientes con drepanocitosis se estudiaron 45 sujetos mediante evaluación clínica, biopsia de grasa abdominal y estudio de conducción nerviosa, evaluándose si existía relación entre ambos trastornos. Resultados: Se encontraron signos de neuropatía predominantemente sensitiva. Las alteraciones del estudio de conducción fueron constantes, comprobándose que la existencia de amiloidosis aumentó la frecuencia y la severidad de la neuropatía en estos pacientes. La biopsia de nervio peroneo demostró amiloidosis en dos casos. Conclusiones: Los resultados indican que la amiloidosis se relaciona con el desarrollo de neuropatía periférica en los pacientes con anemia drepanocítica(AU)

Introduction: The inflammatory condition that accompanies sickle cell anemia can be associated to systemic amyloidosis, a complication of this disease which can also affect the peripheral nerves because of its chronic vaso-occlusive process. Objectives: To assess the function of amyloidosis in the development of peripheral neuropathy in a group of patients with hemoglobinopathy SS. Methods: In order to determine if amyloidosis takes part in the development of peripheral neuropathy in patients with sickle cells disease, 45 subjects were studied by means of clinical evaluation, biopsy of abdominal fat and a study of nervous conduction, being evaluated if there was any relation between both disorders. Results: Signs of predominantly sensitive neuropathy were found, and the alterations of the study of conduction were constant, being verified that the existence of amyloidosis increased the frequency and the severity of neuropathy in these patients. Peroneal nerve´s biopsy demonstrated that amyloidosis was present in two cases. Conclusions: The results indicate that amiyloidosis is related to the development of peripheral neuropathy in patients with sickle cell anemia(AU)

Caracterización clinicoepidemiológica de pacientes con diabetes mellitus de tipo 2 / Clinical epidemiological characterization of patients with type II diabetes mellitus

Se realizó un estudio observacional, descriptivo y transversal de 700 pacientes con diabetes mellitus de tipo 2, atendidos en las áreas de salud Julián Grimau García y Carlos Juan Finlay de Santiago de Cuba durante 2014, con vistas a caracterizarles según variables clinicoepidemiológicas de interés. En la serie predominaron el sexo femenino, el grupo etario de 61 años y más, la hipertensión arterial, la obesidad y la dislipidemia como principales comorbilidades, además de la neuropatía periférica, la enfermedad vascular periférica y la retinopatía como complicaciones más comunes. Por otra parte, los medicamentos más usados fueron los hipoglucemiantes orales y se identificó el riesgo de complicaciones metabólicas, tabaquismo y consumo de alcohol; este último duplicado en el sexo masculino

An observational, descriptive and cross-sectional study of 700 patients with type II diabetes mellitus, assisted in Julián Grimau García and Carlos Juan Finlay health areas was carried out in Santiago de Cuba during 2014, aimed at characterizing them according to clinical-epidemiological variables of interest. In the series there was a prevalence of the female sex, 61 years and over age group, hypertension, obesity and the dyslipidemia as main comorbidities, besides the peripheral neuropathy, the peripheral vascular illness and the retinopathy as more common complications. On the other hand, the used medications were the oral hypoglycemic agents and it was identified the risk of metabolic complications, tabaquism and alcohol consumption; this last doubled in the male sex

Association between Wegener´s granulomatosis and severe lumbar pain

Introducción: La granulomatosis de Wegener (GW) es una enfermedad autoinmune sistémica caracterizada por vasculitis granulomatosa necrotizante que afecta principalmente a las vías respiratorias superiores, pulmones y riñones. Sin embargo, con menos frecuencia puede afectar a los músculos, las articulaciones, la piel, los ojos, el sistema cardiovascular y el sistema nervioso. La presencia de dolor lumbar consiste en una manifestación clínica inusual debido a la afectación del sistema nervioso. Objetivo: El objetivo de este estudio es alertar a los profesionales de la salud acerca de la posibilidad de cortar el dolor lumbar estar relacionado con la granulomatosis de Wegener, su impacto en la vida diaria del paciente, así como los signos clínicos y las formas de diagnóstico. Materiales y Métodos: Revisión de la literatura utilizando PubMed, MEDLINE, Google Scholar, SciELO, EBSCO. Los trabajos seleccionados entre 1995 y 2013 por un total de 48 obras de las cuales se seleccionaron 21 de acuerdo con sus informes de afectación neurológica, diagnóstico y tratamiento. Discusión: Los síntomas neurológicos pueden ocurrir en 22-50 por ciento de los pacientes durante el curso de la GW. sistema nervioso (SNC) central es poco frecuente (sólo 2-8 por ciento de los pacientes) dolor lumbar .Severe es una manifestación clínica poco frecuente y puede estar asociada con la participación de sistema nervioso central y periférico. CNS debido a la compresión de la médula espinal a nivel lumbar. sistema nervioso periférico debido a la compresión de las raíces nerviosas. Conclusión: La granulomatosis de Wegener es ser una enfermedad sistémica puede presentar diferentes manifestaciones clínicas De acuerdo con el sitio involucrado. Es asociaciones con el dolor lumbar es rara y la refleja la afectación neurológica. Por lo tanto, en pacientes con dolor lumbar grave sin diagnóstico confirmado, granulomatosis de Wegener no debería ser considerado.

Introduction: Wegener’s granulomatosis (WG) is a systemic autoimmune disease characterized by necrotizing granulomatousvasculitis which primarily affects upper respiratory tract, lungs and kidneys. However, less frequently can affect muscles,joints, skin, eyes, cardiovascular system and nervous system. The presence of lumbar pain consists in an unusual clinicalmanifestation due to the involvement of the nervous system. Objective: The objective of this study is to alert health professionalsabout the possibility that severe lumbar pain be related to Wegener’s granulomatosis, it’s impact on the patient’s dailylife as well as clinical signs and diagnosis forms. Materials and Methods: Literature review using PubMed, MEDLINE, GoogleScholar, SciELO, EBSCO. Selected works from 1995 to 2013 totaling 48 works of which 21 were selected according to theirreports of neurological involvement, diagnosis and treatment. Discussion: Neurological symptoms may occur in 22-50 percent of patients during the course of WG. Central nervous system (CNS) involvement is uncommon (only 2-8 percent of patients).Severelumbar pain is a rare clinic manifestation and it can be associated with the involvement of central and peripheral nervous system.CNS due to compression of the spinal cord at the lumbar level. Peripheral nervous system due to compression of nerveroots. Conclusion: Wegener’s granulomatosis for being a systemic disease can present different clinical manifestations accordingto the involved site. It’s associations with lumbar pain is rare and reflects it’s neurological involvement. Therefore, inpatients with severe lumbar pain without confirmed diagnosis, Wegener’s granulomatosis should be considered.

Neuropatía periférica como forma de presentación inicial en ataque agudo de porfiria. Reporte de caso clínico / Peripheral neuropathy as initial symptom in porphyria attacks: A case report

Las porfirias constituyen un grupo de ocho enfermedades de baja prevalencia, causadas por defectos enzimáticos en la vía metabólica de la síntesis del grupo hem. Una de sus formas es la porfiria intermitente aguda; afecta a 1,5/100.000 personas año y se presenta con dolor abdominal, taquicardia, parestesias, constipación y vómito. La neuropatía porfírica es en esencia motora, simétrica y suele ser proximal. Se presenta el caso de una paciente de sexo femenino con neuropatía periférica, dolor abdominal y elevación de las transaminasas, en quien se documentó porfiria intermitente aguda. Después de instaurado el manejo, los síntomas se resolvieron...(AU)

Porphyrias are a group of eight low prevalence disorders of heme metabolism, each characterized by a defect in an enzyme required for the synthesis of heme. Acute intermittent porphyria, affecting 1.5 per 100.000 people per year manifesting with abdominal pain, tachycardia, paresthesia, constipation and vomiting, is one type of porphyria. Porphyric neuropathy is fundamentally motor, symmetrical and often has a proximal predilection. A case is presented in a female patient in whom acute intermittent porphyria was documented. Her symptoms included peripheral neuropathy, abdominal pain and elevation of transaminases. Her symptoms resolved after receiving treatment...(AU)

Clinical and neurophysiological features of the hereditary neuropathy with liability to pressure palsy due to the 17p11. 2 deletion / Aspectos clínicos e neurofisiológicos de pacientes com a neuropatia hereditária com a susceptibilidade à pressão associada à deleção 17p11. 2

ABSTRACT The hereditary neuropathy with liability to pressure palsies (HNPP) is an autossomal dominant disorder manifesting recurrent mononeuropathies. Objective Evaluate its clinical and nerve conduction studies (NCS) characteristics, searching for diagnostic particularities. Method We reviewed the neurological manifestations of 39 and the NCS of 33 patients. Results Family history was absent in 16/39 (41%). The onset complaints were weakness in 24, pain in 6, sensory deficit in 5 and paresthesias in 4. Pain was seen in 3 other patients. The following neuropathy patterns were found: multiple mononeuropathy (26), mononeuropathy (7), chronic sensorimotor polyneuropathy (4), chronic sensory polyneuropathy (1) and unilateral brachial plexopathy (1). NCS showed a sensorimotor neuropathy with focal conduction slowing in 31, two had mononeuropathy and another brachial plexopathy. Conclusion HNPP presentation is variable and may include pain. The most frequent pattern is of an asymmetrical sensory and motor neuropathy with focal slowing at specific topographies on NCS.

RESUMO A neuropatia hereditária com susceptibilidade à pressão (HNPP) é uma doença autossômica dominante que manifesta mononeuropatias recorrentes. Objetivo Avaliar as características clínicas e os estudos da condução nervosa (ECN) procurando particularidades diagnósticas. Método Revisamos as características clínicas de 39 e os ECN de 33 pacientes. Resultados História familiar ausente em 16/39 (41%). As manifestações iniciais foram: fraqueza em 24, dor em 6, déficit sensitivo em 5 e parestesias em 4. Dor foi referida por outros 3 pacientes. Os seguintes padrões de neuropatia foram observados: mononeuropatia múltipla (26), mononeuropatia (6), polineuropatia sensitivo-motora (4), polineuropatia sensitiva (1) e plexopatia braquial unilateral (1). Os ECN mostraram uma neuropatia sensitivo-motora com redução focal da velocidade de condução em 31, dois tinham mononeuropatia e outro plexopatia braquial. Conclusão A apresentação da HNPP é variável e pode incluir dor. O padrão mais frequente é o de uma neuropatia sensitivo-motora assimétrica com alentecimentos focais da condução em topografias específicas nos ECN.

Tratamiento de la neuropatía sensitiva dolorosa asociada al VIH / Treatment of painful hiv-associated sensory neuropathy

Se presenta una revisión de los estudios aleatorizados a doble ciego y controlados con placebo, publicados en la literatura científica sobre el tratamiento farmacológico y con terapias complementarias de la neuropatía periférica dolorosa, asociada al virus de la inmunodeficiencia humana adquirida (VIH), publicados entre enero de 1996 y octubre de 2015. Se localizaron 219 artículos y se seleccionaron para análisis 20 estudios. Los 20 estudios seleccionados incluyeron 2.246 pacientes con neuropatía sensitiva distal asociada a HIV (HIV-SN) característicamente dolorosa, en la forma de polineuropatía sensitiva distal (DSP) o neuropatía por antiretrovirales (ATN) y correspondieron a estudios controlados. Los resultados de esta revisión muestran la eficacia de la capsaicina al 8%, el cannabis fumado y el factor de crecimiento neural recombinante humano (rhNGF) en el manejo del dolor de la DSP. La lamotrigina y la acetilcarnitina son medicaciones prometedoras en la ATN de los pacientes con HIV. Sin embargo, es necesaria la búsqueda de nuevas estrategias terapéuticas en el manejo de la DSP y la ATN.

We present a systematic of the randomized, double-blind, placebo-controlled studies published in the scientific literature concerning the pharmacological treatment and complementary therapies of the painful peripheral neuropathy associated with the human acquired immunodeficiency virus (HIV), between January, 1996 and octubre, 2015. The analysis comprises 20 studies selected from a total of 219 articles located. The 20 controlled studies selected included 2246 patients with HIV-associated distal sensory neuropathy (HIV-SN), characteristically painful, in the form of distal sensory polyneuropathy (DSP) or antiretroviral neuropathy (ATN). The results of this revision show the efficacy of 8% capsaicin, smoked cannabis and recombinant human neural growth factor (rhNGF) in pain management of DSP. Lamotrigine and Acetyl-L carnitine are promising medications in the ATN of HIV patients. Notwithstanding, a search for new therapeutic strategies for the management of DSP and ATN is still necessary.

Síndrome de Sjögren asociado a neuritis periférica, pupila tónica de Adie y fenómeno de Raynaud / Sjögren syndrome associated with peripheral neuropathy, Adie tonic pupil and Raynaud phenomenon

Objetivo: Describir el caso clínico de una paciente con Síndrome de Sjögren asociado a Neuritis periférica, pupila tónica de Adie y fenómeno de Raynaud. Diseño del estudio: Reporte de caso. Metodología: Reportamos el caso clínico de una paciente con Síndrome de Sjögren y sus asociaciones poco frecuente, que consulto a la clínica Instituto Oftalmológico Fernández Vega, Oviedo ­ España. Se realizó una revisión exhaustiva de la historia clínica, del paciente y sus paraclínicos. Resultados: Paciente femenino con antecedentes de Síndrome de Sjögren acude por presentar cervicalgia y neuralgias, además de sensación de ojo seco y disconfort ocular de predominio en OI. En el examen se evidenció agudeza visual mejor corregida (AVMC) 20/20, fenómeno de Raynaud, pupila tónica de Adie en OI (Test de pilocarpina positiva), Test de Schirmer 6 mm en ambos ojos (AO), estesiometría y Lancaster normal AO. Se manejó con corticoides e inmunomoduladores tópicos sin mejoría. La analítica sanguínea para estudios de causas infecciosas e inmunologicas resultópositiva para ANA. Se diagnosticó síndrome de Sjögren asociado a neuropatía periférica. Se inicia tratamiento a metotrexato sistémico con mejoría notoria de síntomas. Test de Schirmer control 16 mm OD y 20 mm OI. Conclusión: Las neuropatías periféricas son posibles manifestaciones del síndrome de Sjögren primario, y se podrían presentar con más frecuencia cuando se asocian a los anticuerpos y fenómeno de Raynaud. Por su parte las neuropatías periféricas podrían ser la primera manifestación en el síndrome de Sjögren en alrededor del 50% de los pacientes.

Objective: To report the clinical case of a female patient with Sjögren syndrome associated with peripheral neuropathy, Adie tonic pupil and Raynaud phenomenon. Study design: Case report. Methods: We performed a descriptive case report with detailed review of the medical record of a female patient with Sjögren syndrome and its associations. The patient was treated at Fernandez Vega Eye Institute, Oviedo-Spain. Her medical records was reviewed and analyzed. Ancillary tests were taken. Results: Female patient with a previous history of Sjögren's syndrome complained about neck pain, neuralgia, dry eye and ocular discomfort predominantly in OS. Best-corrected visual acuity (BCVA) was 20/20. Raynaud's phenomenon was positive. Slit lamp examination: Adie tonic pupil in OS. Schirmer Test 6 mm OU. We started corticosteroids and topical immunomodulators without improvement. Blood tests for infectious and immunological studies (ANA) were positive. After these results Sjögren syndrome associated with peripheral neuropathy was diagnosed and started methotrexate systemic treatment with improvement. Conclusion: Peripheral neuropathies are manifestations of primary Sjögren's syndrome. These manifestations can be present more often when are associated with antibodies (ANA) and Raynaud's phenomenon. On the other hand peripheral neuropathies may be the first manifestation in Sjögren's syndrome in about 50% of patients.

Diabetic neuropathy / Neuropatia diabética

ABSTRACT BACKGROUND AND OBJECTIVES: Diabetic neuropathy is a major cause of neuropathy worldwide and may lead to amputations and incapacity. This study aimed at a detailed and updated review on diabetic neuropathy, focusing on its classification, diagnostic investigation and treatment. CONTENTS: It is estimated that 371 million people aged from 20 to 79 years, worldwide, have diabetes mellitus and that at least half of them are unware of the diagnosis. Its prevalence in Central and South America was estimated in 26.4 million people, corresponding to approximately 6.5% of the population. Among microvascular complications, diabetic neuropathy is the most prevalent, leading to the highest rates of hospitalization, atraumatic amputations and incapacity. Diabetic neuropathy may have different clinical presentations, being distal symmetric polyneuropathy its most frequent presentation and major mechanism to the development of diabetic foot. Predominantly it presents with positive (burning, tingling) and negative (numbness, loss of sensitivity) sensory symptoms. In general it is associated to autonomic signs and symptoms and seldom there is motor manifestation. Approximately 20% of patients with distal symmetric polyneuropathy have neuropathic pain, which sometimes becomes chronic and disabling. CONCLUSION: Early and accurate diagnosis allows for adequate treatment, preventing progression of neuropathy and severe complications. For such, it is necessary to obtain an acurate clinical history, in addition to thorough neurological tests and additional tests, to identify signs of nervous fibers involvement. Its treatment depends on adequate glycemic control and neuropathic pain treatment, when present.

RESUMO JUSTIFICATIVA E OBJETIVOS: A neuropatia diabética constitui uma das principais causas de neuropatia no mundo, podendo levar a amputacoes e incapacidade. O objetivo deste estudo foi fazer uma revisão detalhada e atualizada sobre neuropatia diabética, focando em sua classificação, investigação diagnóstica e tratamento. CONTEÚDO: Estima-se que 371 milhões de pessoas, entre 20 e 79 anos, em todo o mundo apresentem diabetes mellitus e que pelo menos metade destas desconheça o diagnóstico. Sua prevalência na América Central e do Sul foi estimada em 26,4 milhões de pessoas e projetada para 40 milhões, em 2030. O Brasil ocupa a 4ª posição mundial com maior prevalência de diabetes mellitus com 13.4 milhões de pessoas com a doença, correspondendo a aproximadamente 6,5% da população. Dentre as complicações microvasculares, a neuropatia diabética apresenta maior prevalência, levando a maiores taxas de internações hospitalares, amputações não traumáticas e incapacidade. A neuropatia diabética pode se manifestar de diferentes formas clínicas, sendo a polineuropatia simétrica distal sua apresentação mais frequente e principal mecanismo de desenvolvimento do pé diabético. Predominantemente, apresenta-se com sintomas sensitivos positivos (queimação, formigamento) e negativos (dormência, perda de sensibilidade); porém, pode se desenvolver de maneira assintomática. Geralmente associa-se a sinais e sintomas autonômicos e raramente há manifestação motora. Aproximadamente, 20% dos pacientes com polineuropatia simétrica distal apresentam dor neuropática que, por vezes, torna-se crônica e incapacitante. CONCLUSAO: O diagnóstico realizado precoce e corretamente possibilita o adequado tratamento, evitando-se a progressão da neuropatia e complicações graves. Para isso, é necessária a obtenção de cuidadosa história clínica, além de minucioso exame neurológico e exames complementares, a fim de identificar sinais de comprometimento de fibras nervosas. Seu tratamento depende do adequado controle glicêmico e quando presente, tratamento da dor neuropática.

Polineuropatia secundária ao uso crônico de estatinas / Polineuropathy due to chronic use of statins

Os inibidores da 3-hidroxi-3-metilglutaryl coenzima-A (HMG-CoA)redutase têm eficácia comprovada em reduzir os níveis de colesterole prevenir a inflamação do endotélio coronariano, cerebral e periférico.Os efeitos adversos devem ser conhecidos, pois sua suspensão pode levar à completa reversibilidade dos sintomas. São descritas complicações musculares, entre elas, mialgia, miosite e rabdomiólise, além de complicações hepáticas, neuropatias e outras. Foram revistos 1 estudo experimental, 6 estudos populacionais, 25 relatos de casos e 2 revisões sobre o tema, a maioria apontando para a real existência dessa complicação. A neuropatia induzida por estatinas tem incidência aproximada de 12 por 100.000 pessoas-ano. Apresenta-se mais comumente como polineuropatia sensitivo-motora axonal de predomínio sensitivo. Em alguns casos, agravam neuropatias periféricas preexistentes. A fisiopatologia parece convergir para o comprometimento da cadeia respiratória mitocondrial. O diagnóstico baseia-se na relação temporal entre o uso ou suspensão da droga e o surgimento ou melhora dos sinais e sintomas. Os exames laboratoriais são fundamentais para excluir causas de neuropatias periféricas bem estabelecidas. O prognóstico relaciona-se com o momento de suspensão da droga, com relatos desde melhora completa até irreversibilidade.

Inhibitors of coenzyme A 3-hydroxy-3-metilglutaryl (HMG-CoA) reductaseinhibitors have proven to reduce cholesterol levels and prevent inflammation of the coronary, cerebral and peripheral endothelium. Adverse effects should be known, for its suspension can lead to complete reversibility of symptoms. Muscle complications are described, among them, myalgia, myositis and rhabdomyolysis, besides hepatic, neuropathies, and others. One experimental study and 6 population studies, 25 cases reports, and other 2 reviews were reviewed, most pointing to the actual existence of this complication. Statin induced neuropathy has an approximate incidence of 12 per 100,000 persons-year. It most commonly is presented as a sensorimotor axonal polyneuropathy predominantly sensory. In some cases it aggravates pre-existing peripheral neuropathies. The pathophysiology seems to converge to impairment of the mitochondrial respiratory chain. The diagnosis is based on the temporal relationship between the use or discontinuation of the drug and the emergence or improvement of signs and symptoms. Laboratory tests are essential to exclude well established causes of peripheral neuropathies. The prognosis is related to the moment of drug suspension, with reports from complete recovery to irreversibility.

Chemotherapy-induced peripheral neuropathy: review for clinical practice / Neuropatia periférica induzida por quimioterapia: revisão para a prática clínica

ABSTRACTBACKGROUND AND OBJECTIVES:Chemotherapy-induced peripheral neuropathy is the most common neurological syndrome secondary to antineoplastic therapy primarily affecting patients being treated with taxanes and platinum derivatives. Sensory neuropathy is the most frequent type. This study aimed at carrying out a narrative review of the literature on the pathophysiology, clinical manifestations, impact, evaluation, diagnosis treatment and prevention of chemotherapy-induced peripheral neuropathy.CONTENTS:Recent studies have shown association among inflammatory molecules, oxidative stress and development of chemotherapy-induced peripheral neuropathy. Most frequent symptoms are limbs numbness and tingling, with neuropathic pain having significant impact on the functionality of patients submitted to antineoplastic therapy. Several evaluation tools have been tested, being electroneuromyography considered the golden standard for chemotherapy-induced peripheral neuropathy diagnosis. There are different pharmacological strategies for its therapy and prevention.CONCLUSION:It is known that chemotherapy-induced peripheral neuropathy is a frequent syndrome negatively interfering with cancer patients’ treatment and quality of life. Different drugs are associated to different risk levels, which show its neurobiological complexity. Prevention, diagnostic and treatment strategies have to greatly evolve to minimize its frequency and severity.

RESUMOJUSTIFICATIVA E OBJETIVOS:A neuropatia periférica induzida por quimioterapia é a síndrome neurológica mais comum secundária à terapêutica antineoplásica e acomete principalmente pacientes que necessitam de tratamento com taxanes e derivados da platina. A neuropatia sensorial é o tipo mais frequente. O objetivo deste estudo foi realizar uma revisão narrativa de literatura sobre a fisiopatologia, manifestações clínicas, impacto, avaliação, diagnóstico, tratamento e prevenção da neuropatia periférica induzida por quimioterapia.CONTEÚDO:Estudos recentes têm demonstrado associação entre moléculas inflamatórias, estresse oxidativo e o desenvolvimento da neuropatia periférica induzida por quimioterapia. Dentre os sintomas, queixas de dormências e formigamentos nos membros são as mais frequentes, sendo a dor neuropática quadro de significativo impacto na funcionalidade dos pacientes em terapia antineoplásica. Diversos instrumentos de avaliação têm sido testados, sendo a eletroneuromiografia considerada o padrão ouro para o diagnóstico de neuropatia periférica induzida por quimioterapia. A terapêutica e a sua prevenção contam com diferentes estratégias farmacológicas.CONCLUSÃO:Reconhece-se que a neuropatia periférica induzida por quimioterapia é uma síndrome frequente e que interfere negativamente no tratamento e na qualidade de vida do paciente com câncer. Fármacos diferentes estão associados a graus variáveis de risco, o que mostra sua complexidade neurobiológica. As estratégias de prevenção, diagnóstico e tratamento precisam evoluir sobremaneira no sentido de minimizar a sua ocorrência e a gravidade.

A Case-Control study of the prevalence of neurological diseases in inflammatory bowel disease (IBD) / Um estudo de caso-controle da prevalência de doenças neurológicas na doença inflamatória intestinal (DII)

Neurological diseases are common in inflammatory bowel disease (IBD) patients, but their exact prevalence is unknown. Method We prospectively evaluated the presence of neurological disorders in 121 patients with IBD [51 with Crohn's disease (CD) and 70 with ulcerative colitis (UC)] and 50 controls (gastritis and dyspepsia) over 3 years. Results Our standard neurological evaluation (that included electrodiagnostic testing) revealed that CD patients were 7.4 times more likely to develop large-fiber neuropathy than controls (p = 0.045), 7.1 times more likely to develop any type of neuromuscular condition (p = 0.001) and 5.1 times more likely to develop autonomic complaints (p = 0.027). UC patients were 5 times more likely to develop large-fiber neuropathy (p = 0.027) and 3.1 times more likely to develop any type of neuromuscular condition (p = 0.015). Conclusion In summary, this is the first study to prospectively establish that both CD and UC patients are more prone to neuromuscular diseases than patients with gastritis and dyspepsia. .

Doenças neurológicas são comuns em pacientes com doença inflamatória intestinal (DII), mas sua prevalência exata é desconhecida. Métodos Nós estudamos prospectivamente a presença de distúrbios neurológicos em 121 pacientes com DII [51 com doença de Crohn (DC) e 70 com colite ulcerativa (RCU)] e 50 controles (gastrite e dispepsia) ao longo de 3 anos. Resultados A avaliação neurológica padronizada (que incluiu testes eletrodiagnósticos) demonstrou que pacientes com DC foram 7,4 vezes mais propensos a desenvolver neuropatias de fibras grossas do que os controles (p = 0,045), 7,1 vezes mais propensos a desenvolver qualquer tipo de condição neuromuscular (p = 0,001) e 5,1 vezes mais propensos a desenvolver queixas autonômicas (p = 0,027). Pacientes com RCU foram 5 vezes mais propensos de desenvolver neuropatia de fibras grossas (p = 0,027) e 3,1 vezes mais propensos a desenvolver qualquer tipo de condição neuromuscular (p = 0,015). Conclusão Em resumo, este é o primeiro estudo prospectivo a estabelecer que os pacientes tanto com DC quanto de RCU são mais propensos a doenças neuromusculares do que os pacientes com gastrite e dispepsia. .

Neurografía por resonancia magnética en la evaluación de los nervios periféricos / Magnetic resonance neurography in the evaluation of peripheral nerves

Magnetic resonance neurography (MRN), with high resolution sequences, allows for a detailed study of the plexus and peripheral nerves. For its interpretation, it is necessary to have a general knowledge of MR, as well as of the anatomy of the neuromuscular system and lesions that affect it. Nerve and plexus pathology can be divided into mononeuropathies (for trauma, entrapment or tumors) and hereditary polyneuropathies (such as Charcot-Marie-Tooth disease) or acquired (for chronic idiopathic demyelinating polyradiculoneuropathy, diabetes, vasculitis or inflammation). The objective of this review is to describe the study technique of Magnetic Resonance Neurography as well as the characteristics of the normal and pathological peripheral nerve.

La neurografía por resonancia magnética (NRM), con secuencias de alta resolución, permite un detallado estudio de los plexos y nervios periféricos. Para su interpretación, es necesario contar con conocimientos generales de RM, así como de la anatomía del sistema neuromuscular y de las lesiones que lo afectan. La patología de los nervios y plexos puede dividirse en mononeuropatías (por trauma, atrapamiento o tumores) y polineuropatías hereditarias (como la enfermedad de Charcot Marie Tooth) o adquiridas (por poliradiculoneuropatía desmielinizante idiopática crónica, diabetes, vasculitis o inflamación) El objetivo de esta revisión es describir la técnica de estudio de la neurografía por resonancia magnética, así como las características del nervio periférico normal y patológico.