Evaluación del nervio vago en un paciente con neuropatía hereditaria sensitivomotora tipo 1° / Evaluation of the vagal nerve in a patient with hereditary motor sensory neuropathy type 1°

No disponible

Lepra neural pura. Aspectos diagnósticos en un caso clínico / Pure neural leprosy. Diagnostic aspects of a clinical case

Introducción. 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 exposición con enfermos y en ocasiones por reactivación. Una posibilidad inhabitual es la lepra neural pura, caracterizada por neuropatía, pero sin lesiones en la piel. Se describe un paciente con lepra neural pura y se revisan los aspectos diagnósticos. Caso clínico. Varón de 40 años, inmigrante, diagnosticado y tratado de lepra 20 años antes. Acudió por parestesias y disestesias dolorosas en las manos y las piernas sin lesiones en la piel. Se demostró mononeuritis múltiple aguda con principal afectación de cubitales. La enfermedad, tipificada como tuberculoide paucibacilar, se trató y en pocas semanas la mejoría fue evidente. Conclusiones. En este caso de lepra neural pura por reactivación, el diagnóstico temprano permitió un rápido tratamiento. Es recomendable la evaluación de la neuropatía integrada con criterios clínicos, electrofisiológicos y ecográficos. De este modo se consigue una alta sensibilidad y especialmente una precocidad en el diagnóstico y la instauración del tratamiento, y por consecuencia una mejor recuperación funcional (AU)

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 (AU)

Aportación de la electroencefalografía en la detección temprana de leucinosis neonatal / Value of electroencephalography in the early detection of neonatal leucinosis

Introducción. La leucinosis es una metabolopatía neonatal grave. Es consecuencia del déficit enzimático determinado genéticamente del complejo descarboxilasa-dihidrolipoil transacilasa y dihidrolipoil deshidrogenasa, y del acúmulo consecuente de los metabolitos precursores, aminoácidos ramificados de cadena larga y sus alfa-cetoácidos. Son potentes neurotóxicos, responsables del rápido establecimiento de edema y desmielinización cerebral difusa. La demora en el diagnóstico suele provocar graves secuelas psicomotoras o incluso la muerte. Caso clínico. Se presenta una paciente neonata con encefalopatía neonatal grave, crisis epilépticas y un electroencefalograma (EEG) con unas características especiales que orientó el diagnóstico hacia una posible leucinosis. El diagnóstico temprano permitió instaurar rápidamente el tratamiento específico y conseguir una evolución favorable de la paciente. Conclusiones. El EEG en pacientes con sospecha de encefalopatía neonatal ofrece información funcional de alta rentabilidad con un bajo coste, en especial por promover diagnósticos y tratamientos tempranos. El EEG en la leucinosis presenta signos peculiares, reconocibles en períodos tempranos en la mayor parte de los afectados, como ocurrió en el caso descrito. Parece recomendable integrar el EEG en el cribado de encefalopatías neonatales por ser una técnica diagnóstica valiosa, inocua y, por lo general, accesible y especialmente de ayuda en metabolopatías tratables, como la leucinosis (AU)

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 (AU)

Hipertrofia muscular neurogénica / Neurogenic muscle hypertrophy

No disponible

[Multiple abnormal innervation of the hand in one patient. Electrophysiological diagnosis]. / Inervacion anomala multiple de la mano en una paciente. Diagnostico electrofisiologico.

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 with iatrogenesis 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 sensory kind. 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 of electroneurography 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.

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

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.

Mononeuritis múltiple en un paciente con síndrome de Churg-Strauss. Pseudobloqueos como expresión electroclínica temprana / Multiple mononeuritis in a patient with Churg-Strauss syndrome. Pseudo conduction block as an early electroclinical expression

Introducción. La mononeuritis múltiple es una de las manifestaciones más frecuentes del síndrome de Churg-Strauss. Caso clínico. En un varón de 53 años con síndrome de Churg-Strauss, se describe una mononeuritis múltiple aguda sensitivomotora de las cuatro extremidades. Mediante electrodiagnóstico en los primeros siete días se demostraron bloqueos de conducción en varios nervios. Los estudios posteriores objetivaron una polineuropatía axonal sensitivomotora difusa y bilateral con asimetrías, pero sin bloqueos. La electrofisiología y la histología, así como los estudios experimentales, indicaban que se trataba de una axonopatía secundaria a isquemia aguda. Conclusiones. Sólo en pocos casos, como en éste, y en estudios muy incipientes se han descrito bloqueos de conducción que, por su relación habitual con desmielinización, provocan confusión diagnóstica y pronóstica. La evolución suele demostrar una axonopatía por degeneración walleriana. Por tanto, en estos casos parece recomendable extremar la cautela y realizar estudios neurofisiológicos en las siguientes semanas para evitar inadecuados juicios diagnósticos y pronósticos (AU)

Introduction. Multiple mononeuritis is one of the most frequent manifestations of Churg-Strauss syndrome. Case report. We describe a case of acute sensory-motor multiple mononeuritis in all four limbs of a 53-year-old male with Churg-Strauss syndrome. Electrodiagnosis performed within the first seven days revealed conduction blocks in several nerves. Follow-up studies showed diffuse bilateral sensory-motor axonal polyneuropathy with symmetries, but without blocks. Electrophysiological and histological analyses, together with experimental studies, showed it to be an axonopathy secondary to acute ischaemia. Conclusions. In only a few cases, such as this one and in a small number of incipient studies, have there been reports of conduction blocks that, owing to the fact that they are commonly related with demyelination, give rise to confusion when it comes to diagnoses and prognoses. The condition usually displays axonopathy due to Wallerian degeneration. It therefore seems recommendable in these cases to proceed with caution and to perform neurophysiological studies in the following weeks in order to prevent inappropriate diagnostic and prognostic judgements from being formed (AU)

[Multiple mononeuritis in a patient with Churg-Strauss syndrome. Pseudo conduction block as an early electroclinical expression]. / Mononeuritis múltiple en un paciente con síndrome de Churg-Strauss. Pseudobloqueos como expresión electroclínica temprana.

INTRODUCTION: Multiple mononeuritis is one of the most frequent manifestations of Churg-Strauss syndrome. CASE REPORT: We describe a case of acute sensory-motor multiple mononeuritis in all four limbs of a 53-year-old male with Churg-Strauss syndrome. Electrodiagnosis performed within the first seven days revealed conduction blocks in several nerves. Follow-up studies showed diffuse bilateral sensory-motor axonal polyneuropathy with symmetries, but without blocks. Electrophysiological and histological analyses, together with experimental studies, showed it to be an axonopathy secondary to acute ischaemia. CONCLUSIONS: In only a few cases, such as this one and in a small number of incipient studies, have there been reports of conduction blocks that, owing to the fact that they are commonly related with demyelination, give rise to confusion when it comes to diagnoses and prognoses. The condition usually displays axonopathy due to Wallerian degeneration. It therefore seems recommendable in these cases to proceed with caution and to perform neurophysiological studies in the following weeks in order to prevent inappropriate diagnostic and prognostic judgements from being formed.