A case of ulnar nerve section at the elbow alleviated by Martin-Gruber communicating branch. Diagnostic characterization.

Martin-Gruber communicating branch may be a confounding factor in the diagnosis of ulnar neuropathy at the elbow. It may also lead to a surprising level of motor function conservation despite evident neuropathy. We present a patient with ulnar nerve section at the elbow who underwent early treatment by nerve suture. At 7 months, function was good, despite sonographic findings of neurotmesis at the elbow. Electroneurography revealed Martin-Gruber communicating branch. This type of communicating branch can be associated with functional conservation despite ulnar nerve section. Electrophysiological and ultrasound findings can be highly contributive in defining these conditions.

Estudio morfológico con ecografía en la meralgia parestésica: en busca de la eficiencia terapéutica / Morphological study with ultrasound imaging in meralgia paraesthetica: in search of therapeutic efficiency

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[Morphological study with ultrasound imaging in meralgia paraesthetica: in search of therapeutic efficiency]. / Estudio morfologico con ecografia en la meralgia parestesica: en busca de la eficiencia terapeutica.

TITLE: Estudio morfologico con ecografia en la meralgia parestesica: en busca de la eficiencia terapeutica.

[Evaluation of the vagal nerve in a patient with hereditary motor sensory neuropathy type 1A]. / Evaluacion del nervio vago en un paciente con neuropatia hereditaria sensitivomotora tipo 1A.

TITLE: Evaluacion del nervio vago en un paciente con neuropatia hereditaria sensitivomotora tipo 1A.

[Pure neural leprosy. Diagnostic aspects of a clinical case]. / Lepra neural pura. Aspectos diagnosticos en un caso clinico.

INTRODUCTION: Leprosy is an infectious disease caused by the bacteria Mycobacterium leprae. It is particularly prone to affect the skin and the nerve trunks and, in fact, both are compromised in most infected patients. It is transmitted by exposure to those with the disease and sometimes by reactivation. One uncommon possibility is pure neural leprosy, which is characterised by neuropathy, but without skin lesions. We report the case of a patient with pure neural leprosy and review the diagnostic aspects. CASE REPORT: A 40-year-old male, an immigrant who was diagnosed and treated for leprosy 20 earlier. The patient visited due to painful paraesthesias and dysesthesias in the hands and legs without the presence of any skin lesions. Acute multiple mononeuritis with mainly ulnar involvement was observed. The disease, typified as paucibacillary/tuberculoid, was treated and in a few weeks there was a clear improvement. CONCLUSIONS: In this case of pure neural leprosy due to reactivation, early diagnosis allowed timely treatment to be established. Evaluation of neuropathy together with clinical, electrophysiological and ultrasound criteria is recommended. By so doing, a high degree of sensitivity is achieved as well as allowing early diagnosis and treatment, and therefore a better functional recovery.

TITLE: Lepra neural pura. Aspectos diagnosticos en un caso clinico.Introduccion. La lepra es una enfermedad infecciosa causada por la bacteria Mycobacterium leprae. Presenta especial avidez por la piel y los troncos nerviosos, y, de hecho, ambos se afectan en la mayor parte de los infectados. Se trasmite por exposicion con enfermos y en ocasiones por reactivacion. Una posibilidad inhabitual es la lepra neural pura, caracterizada por neuropatia, pero sin lesiones en la piel. Se describe un paciente con lepra neural pura y se revisan los aspectos diagnosticos. Caso clinico. Varon de 40 años, inmigrante, diagnosticado y tratado de lepra 20 años antes. Acudio por parestesias y disestesias dolorosas en las manos y las piernas sin lesiones en la piel. Se demostro mononeuritis multiple aguda con principal afectacion de cubitales. La enfermedad, tipificada como tuberculoide paucibacilar, se trato y en pocas semanas la mejoria fue evidente. Conclusiones. En este caso de lepra neural pura por reactivacion, el diagnostico temprano permitio un rapido tratamiento. Es recomendable la evaluacion de la neuropatia integrada con criterios clinicos, electrofisiologicos y ecograficos. De este modo se consigue una alta sensibilidad y especialmente una precocidad en el diagnostico y la instauracion del tratamiento, y por consecuencia una mejor recuperacion funcional.

[Value of electroencephalography in the early detection of neonatal leucinosis]. / Aportacion de la electroencefalografia en la deteccion temprana de leucinosis neonatal.

INTRODUCTION: Leucinosis is a severe neonatal metabolic disease. It is the consequence of the genetically determined enzyme deficiency of the complex formed by decarboxylase-dihydrolipoyl transacylase and dihydrolipoyl dehydrogenase, and of the subsequent accumulation of precursor metabolites, long branched-chain amino acids and their alpha ketoacids. They are powerful neurotoxins, responsible for the swift onset of oedema and diffuse cerebral demyelination. Delays in its diagnosis usually result in severe psychomotor sequelae or even death. CASE REPORT: We report the case of a newborn female patient with severe neonatal encephalopathy, epileptic seizures and an electroencephalogram (EEG) with certain special characteristics that guided the diagnosis towards that of possible leucinosis. Early diagnosis makes it possible to establish specific treatment and achieve a favourable patient outcome. CONCLUSIONS: An EEG in patients with suspected neonatal encephalopathy offers highly cost-effective functional information at a low cost, especially because it promotes early diagnoses and treatments. In cases of leucinosis, EEG presents peculiar signs that are easily recognisable in early periods in most patients, as occurred in the case reported here. We believe EEG should be included in screening for neonatal encephalopathies because it is a valuable, innocuous and generally accessible diagnostic technique. It is especially helpful in treatable metabolic diseases, such as leucinosis.

TITLE: Aportacion de la electroencefalografia en la deteccion temprana de leucinosis neonatal.Introduccion. La leucinosis es una metabolopatia neonatal grave. Es consecuencia del deficit enzimatico determinado geneticamente del complejo descarboxilasa-dihidrolipoil transacilasa y dihidrolipoil deshidrogenasa, y del acumulo consecuente de los metabolitos precursores, aminoacidos ramificados de cadena larga y sus alfa-cetoacidos. Son potentes neurotoxicos, responsables del rapido establecimiento de edema y desmielinizacion cerebral difusa. La demora en el diagnostico suele provocar graves secuelas psicomotoras o incluso la muerte. Caso clinico. Se presenta una paciente neonata con encefalopatia neonatal grave, crisis epilepticas y un electroencefalograma (EEG) con unas caracteristicas especiales que oriento el diagnostico hacia una posible leucinosis. El diagnostico temprano permitio instaurar rapidamente el tratamiento especifico y conseguir una evolucion favorable de la paciente. Conclusiones. El EEG en pacientes con sospecha de encefalopatia neonatal ofrece informacion funcional de alta rentabilidad con un bajo coste, en especial por promover diagnosticos y tratamientos tempranos. El EEG en la leucinosis presenta signos peculiares, reconocibles en periodos tempranos en la mayor parte de los afectados, como ocurrio en el caso descrito. Parece recomendable integrar el EEG en el cribado de encefalopatias neonatales por ser una tecnica diagnostica valiosa, inocua y, por lo general, accesible y especialmente de ayuda en metabolopatias tratables, como la leucinosis.

Inervación anómala múltiple de la mano en una paciente. Diagnóstico electrofisiológico / Multiple abnormal innervation of the hand in one patient. Electrophysiological diagnosis

Introducción. Las anastomosis nerviosas en la mano constituyen desviaciones de la norma anatómica. No son motivo deenfermedad, pero sí eventos relacionados con dificultades electrodiagnósticas, y por su presentación inesperada tambiéncon yatrogenia en cirugías regionales. Caso clínico. Describimos el estudio neurofisiológico de una mujer de 45 años en la que demostramos una anastomosis motora medianocubital en la palma de tipo Riche-Cannieu y dos variantes sensitivas, inervación completa del dedo IV por el cubital e inervación completa por el radial superficial del dorso de la mano.Conclusiones. Las descripciones anatómicas en la mano de inervaciones anómalas son frecuentes, en especial las sensitivas. No suelen provocar problemas, aun cuando se lesione la rama comunicante, probablemente por la habitual escasa participación de axones en la anastomosis. Saber reconocerlas mediante electroneurografía no es difícil si estamos al tanto de sus tipologías y conocemos con rigor los recorridos anatómicos; de este modo podremos desarrollar precisosprotocolos diagnósticos. El conocimiento de estas variantes evitará errores electrodiagnósticos y yatrogenia quirúrgica (AU)

Introduction. Nerve anastomoses in the hand are deviations from the anatomical norm. They do not lead to illness, but still they are events related with electrodiagnostic difficulties and, due to their unexpected presentation, also withiatrogenesis in regional surgical interventions. Case report. We report the neurophysiological study conducted on a 45-year-old female who was found to have Riche-Cannieu-type motor anastomosis between the median and ulnar branches in the palm of the hand, complete innervation of the 4th finger by the ulnar nerve and complete innervation by the superficial radial of the back of the hand. Conclusions. Anatomical descriptions of abnormal innervations in the hand are frequent, especially of the sensorykind. They do not usually give rise to any problems, even when the communicating branch is injured, probably owing to the scant participation of axons that usually occurs in anastomosis. They are not difficult to recognise by means ofelectroneurography if we are aware of their different types and we have a good knowledge of the anatomical routes. This will enable us to develop accurate diagnostic protocols. Knowledge of these variants will prevent electrodiagnostic errors and surgical iatrogenic effects from occurring (AU)

Mononeuritis múltiple y fascitis eosinofílica en una paciente con síndrome hipereosinofílico idiopático / Multiple mononeuritis and eosinophilic fasciitis in a patient with idiopathic hypereosinophilic syndrome

Introducción. El síndrome hipereosinofílico se produce por infiltración tisular habitualmente múltiple de eosinófilos, y puede ser secundario o idiopático según si se relaciona o no con etiología específica. No es raro que incluya enfermedad del nervio, pero es inusual que lo haga en forma de multineuritis. Excepcionalmente la patogenia en mononeuritis múltiple parece relacionarse con neurotoxicidad por productos derivados de eosinófilos y no con fenómenos infiltrativos o inflamatorios. Se presenta el caso de una paciente con síndrome hipereosinofílico sin causa demostrable, multineuritis y fascitis eosinofílica. Caso clínico. Mujer de 30 años sin antecedentes que consultó por nódulos inguinales indoloros que aparecieron semanas antes. Casi de manera simultánea presentó un cuadro sensitivo doloroso en las piernas con una impotencia funcional significativa. Se demostró una importante hipereosinofilia, fascitis eosinofílica e infiltración eosinofílica de médula ósea no neoplásica, así como mononeuritis múltiple. El tratamiento con corticoides orales mejoró la clínica dermatológica y hematológica, y la asociación con gabapentina, los síntomas neuropáticos. Conclusiones. La paciente, según criterios actuales, presentó síndrome hipereosinofílico idiopático con subtipo indeterminado. La asociación con fascitis eosinofílica y multineuritis constituye una asociación no documentada en nuestro conocimiento. No existe en mononeuritis múltiple un mecanismo infiltrativo demostrado, lo que apoya el mal control de la sintomatología neuropática con la corticoterapia oral. La asociación con gabapentina, estabilizador de la membrana axonal, también apoya la hipótesis patogénica neurotóxica (AU)

Introduction. Hypereosinophilic syndrome is produced by what is usually a multiple infiltration of eosinophils into tissues, and may be secondary or idiopathic, depending on whether it is related to a specific aetiology or not. It is not uncommon for it to include nerve disease, but it is unusual for it to do so in the form of multineuritis. Exceptionally, pathogenesis into multiple mononeuritis appears to be related with neurotoxicity due to products derived from eosinophils rather than with infiltrating or inflammatory phenomena. This study describes the case of a female patient with hypereosinophilic syndrome with no verifiable cause, multineuritis and eosinophilic fasciitis. Case report. A 30-year-old female with no relevant history who visited because of some painless inguinal nodules that had appeared several weeks before. At almost the same time, she presented painful sensitive symptoms in her legs with a significant functional incapacity. An important degree of hypereosinophilia, eosinophilic fasciitis and non-neoplastic eosinophilic infiltration of the bone marrow was found, together with multiple mononeuritis. Treatment with oral corticoids improved the dermatological and haematological clinical features, and associating it with gabapentin improved the neuropathic symptoms. Conclusions. The patient, in accordance with current criteria, presented idiopathic hypereosinophilic syndrome with an undetermined subtype. To our knowledge, the association with eosinophilic fasciitis and multineuritis has not been reported to date. There is no proven infiltrating mechanism in multiple mononeuritis, which corroborates the poor control of the neuropathic clinical symptoms with oral corticoid therapy. Association with gabapentin, which stabilises the axonal membrane, also backs up the neurotoxic pathogenetic hypothesis (AU)

Evaluación electroclínica del sistema nervioso periférico en un caso de aracnodactilia contractural congénita (síndrome de Beals-Hecht) / Electroclinical evaluation of the peripheral nervous system in a case of congenital contractural arachnodactyly or Beals-Hecht syndrome

La aracnodactilia contractural congénita o síndrome de Beals-Hecht es una conectivopatía relacionada con el síndrome de Marfan descrita en la bibliografía médica en algo más de un centenar de casos. En este proceso se altera la matriz extracelular del tejido conectivo de modo más significativo a nivel distal de extremidades, produciendo una disfunción en ocasiones muy severa de estructuras óseas y articulares, hipotrofia muscular probablemente secundaria a las deformidades resultantes y a la hipomotilidad articular y contracturas tendinoarticulares desde el nacimiento muy llamativas que constituyen uno de los rasgos característicos de esta enfermedad. Describimos el caso de una niña adolescente con aracnodactilia contractural congénita y su evolución desde el momento del nacimiento. Hacemos hincapié en la ausencia de datos de lesión del sistema nervioso periférico, clínicos y neurofisiológicos, y por tanto confirmamos el origen no neurológico de las amiotrofias distales de estos pacientes, y al mismo tiempo revisamos la literatura sobre el tema

Congenital contractural arachnodactyly or Beals-Hecht syndrome is a connect tissue disease related to Marfan syndrome for which somewhat more than 100 cases have been described in the literature. Extracellular matrix connective tissue is significantly altered in the distal limbs level in this condition. This produces dysfunction that is sometimes very severe of the bone and joint structures, muscular hypertrophy that is probably secondary to the resulting deformities and the very striking joint hypomobility and tendinous articulations and contractures from the birth that constitute one of the characteristics of this disease. We describe the case of an adolescent girl with congenital contractural arachnodactyly and its course from the moment of the birth, stressing the absence of data on injury of the peripheral nervous system as well as clinical and neurophysiological data, thus confirming the nonneurological origin of distal amyotrophy of these patients. We have also reviewed the literature

[Chronic relapsing axonal neuropathy. A case report]. / Polineuropatía crónica axonal recidivante en brotes. Caso clínico.

INTRODUCTION: Polyneuropathies (PNP) result from damage to a number of nerves. They are classified according to the anatomical-functional, histological, aetiological and genetic characteristics. Here we report on the prolonged follow-up carried out on an adult male who had a chronic recurring axonal-type PNP. CASE REPORT: We describe the case of a 65-year-old male who presented episodes of neurological deficit over a period of 10 years that were interspersed with prolonged, stable periods in which he was free of new symptoms. The patient's functional limitations became greater with each successive relapse and the situation is now one of extreme disability. The characteristics of the clinical picture pointed towards a diffuse peripheral nerve disorder, and the neurophysiological studies carried out revealed polyneuropathic, sensory and motor injury mediated by an axonal mechanism with no associated demyelination. A comprehensive analytical, imaging and functional study was conducted, but did not reveal any specific causes. The particular clinical process, the exclusion of other pathologies and the electrophysiological findings allowed us to reach a diagnosis of recurring or episodic chronic primary axonal PNP. CONCLUSIONS: This description can be added to the few cases reported in the literature. As we see it, this is an unusual, although probably underdiagnosed, disease and it must be taken into account in the differential diagnosis of chronic recurring PNP because of the diagnostic implications and--with respect to its usually poor response to therapy--due to the prognoses.

Polineuropatía crónica axonal recidivante en brotes. Caso clínico / Chronic relapsing axonal neuropathy. A case report

Introducción. Las polineuropatías (PNP) son el resultado del daño de múltiples nervios. Se clasifican en relación con las características anatomofuncionales, histológicas, etiológicas y genéticas. Describimos el seguimiento prolongado de un hombre adulto afectado por una PNP de tipo axonal crónico con un curso recidivante. Caso clínico. Paciente de 65 años que presentó, durante 10 años, déficit neurológicos episódicos en los que se intercalaron períodos estables y prolongados libres de nuevos síntomas. Con las sucesivas recidivas el enfermo acumuló una importante limitación funcional que le ha llevado en la actualidad a una situación muy invalidante. Las características del cuadro clínico orientaron hacia una afectación difusa de nervio periférico, y los estudios neurofisiológicos demostraron una lesión polineuropática, sensitiva y motora mediada por un mecanismo axonal sin desmielinización asociada. Se realizó un amplio estudio analítico, de imagen y funcional, sin que se evidenciaran etiologías específicas. El proceso clínico particular, la exclusión de otras patologías y los hallazgos electrofisiológicos, permitieron realizar el diagnóstico de PNP crónica axonal primaria recidivante o en brotes. Conclusiones. Este caso es otra descripción de los pocos documentados en la bibliografía. En nuestra opinión constituye una enfermedad inusual, aunque con probabilidad infradiagnosticada, y debe considerarse en el diagnóstico diferencial de PNP crónicas recidivantes por las implicaciones diagnósticas y, en relación con su habitual mala respuesta terapéutica, por las pronósticas

Introduction. Polyneuropathies (PNP) result from damage to a number of nerves. They are classified according to the anatomical-functional, histological, aetiological and genetic characteristics. Here we report on the prolonged follow-up carried out on an adult male who had a chronic recurring axonal-type PNP. Case report. We describe the case of a 65-year-old male who presented episodes of neurological deficit over a period of 10 years that were interspersed with prolonged, stable periods in which he was free of new symptoms. The patient’s functional limitations became greater with each successive relapse and the situation is now one of extreme disability. The characteristics of the clinical picture pointed towards a diffuse peripheral nerve disorder, and the neurophysiological studies carried out revealed polyneuropathic, sensory and motor injury mediated by an axonal mechanism with no associated demyelination. A comprehensive analytical, imaging and functional study was conducted, but did not reveal any specific causes. The particular clinical process, the exclusion of other pathologies and the electrophysiological findings allowed us to reach a diagnosis of recurring or episodic chronic primary axonal PNP. Conclusions. This description can be added to the few cases reported in the literature. As we see it, this is an unusual, although probably underdiagnosed, disease and it must be taken into account in the differential diagnosis of chronic recurring PNP because of the diagnostic implications and –with respect to its usually poor response to therapy– due to the prognoses

Tibial muscular dystrophy with late adult onset in a Spanish family.

PURPOSE: We report autosomal dominant distal muscular dystrophy in 5 members of a Spanish family. INTRODUCTION: This unusual muscular disorder has late adult onset and predominantly it affects the anterior compartment of the legs. This myopathy presented clinical and electromyographical characteristics, but unspecific histological findings. Early there have appeared genetical studies, the most frequently used is chromosome linkage, but it is not an absolute criterion for diagnosis, and it is not available in most hospitals. PATIENTS DESCRIPTIONS: In our cases walking difficulties appeared between the fourth and fifth decades, characterized by progressive and varied weakness with amyotrophy in the tibial anterior compartment. The electromyography confirmed the presence of a severe non-inflammatory myopathy, chronic and symmetric in the pretibial muscles and of less intensity in the calf muscles. The levels of creatine phosphokinase were normal and muscle biopsy identified a chronic, unspecific lesion with important fibrosis. CONCLUSIONS: The findings, although with some phenotypical differences, were those commonly found in Markesbery-Griggs disease, tibial muscular dystrophy or late onset type 2 distal myopathy. We report a family affected by this muscular disorder, we describe the differential diagnosis and we discuss the review of the available literature.

Bilateral sacral radiculopathy in a cyclist.

UNLABELLED: OBJECTIVE-PURPOSE: The purpose of this case report is to describe a gait disorder presenting as a bilateral sacral radiculopathy after vigorous cycling. Also, we discuss the pathogenic mechanisms and we revise the bibliography. PATIENT AND METHODS: The patient complained of a rapid painless weakness in legs, after intense and prolonged cycling 4 months ago. The physical and electromyographical examinations revealed important weakness in foot and knee flexors, and signs of acute denervation with mixed reinnervation (active and chronic) in myotomal S1 muscles, respectively. The lumbo-sacral magnetic resonance imaging were normal. The follow-up studies demonstrated gradually improvement in clinical and neurophysiological parameters. DISCUSSION: We established that our patient presented a subacute bilateral S1 radiculopathy and we confirmed the progressive clinical and neurophysiological improvement. The radiculopathy are infrequent in cyclists, and its common origin is the external compressive aggression. In our patient we speculate and discuss that this radicular lesion could present different pathogenic mechanisms: the elongation, the compression and the secondary vasanervorum ischemia. In our knowledge S1 radiculopathy related to compressive lesions in sportsmen has not been previously described.

[Hereditary sensory and autonomic neuropathies. The neurophysiological and pathological aspects of two cases with congenital insensitivity to pain]. / Neuropatías sensitivas autonómicas hereditarias. Dos casos con insensibilidad congenita al dolor; aspectos neurofisiológicos y patológicos.

AIM: Two patients suffering from congenital insensitivity to pain were studied. They corresponded to types IV and V of the 'hereditary sensory and autonomic neuropathies' (HSAN) classification. CASE REPORTS: The first case showed important autonomic dysfunctions, such as anhidrosis, hyperthermia, skin and bone trophic impairment, and mental retardation; the second one only exhibited alterations in pain and temperature sensibilities. In both, chronic indolent corneal ulcers were also present. Conventional neurophysiological evaluation of the neuromuscular system was normal, but an afferent disturbance of the blink reflex (BR) was evident in both. The sympathetic skin response was absent in the HSAN type IV case and normal in the HSAN type V. Notable reduction of the small myelinated fibres, associated to almost no unmyelinated fibres in the first case, were found in the sural nerve biopsies. CONCLUSIONS: So far there haven't been described BR abnormalities in patients with congenital insensitivity to pain, which should be related to a trigeminal sensory impairment, which could explain the corneal ulcers that suffered these cases. BR studies should be included in the neurophysiological evaluation of the suspected small fibre neuropathies even when there are no facial symptoms shown.

Atrapamiento del nervio peroneal cutáneo lateral de la pierna / Lateral peroneal cutaneous nerve entrapment in the leg

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