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.

[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.

[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.

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.

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.

[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.

[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.

[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.