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.

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

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Réplica. Reflejo del parpadeo (R3) y parálisis facial / Reply. Blink reflex (R3) and facial palsy

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Rett syndrome: a case presenting with atypical seizures. Neurophysiological and clinical aspects.

OBJECTIVE: To describe a specific electroclinical type of epileptic seizure in a patient with Rett syndrome. PATIENT AND METHODS: We present the case of a girl with Rett syndrome and epilepsy, whose seizures followed two differentiated phases, namely (a) a brief hypertonic onset with tonic-axial predominance, followed by (b) a posterior prolonged clinical absence. These two phases were associated, respectively, to a paroxystic desynchronisation or generalised rapid spikes discharges, followed by a critical slow activity. CONCLUSIONS: The epileptic seizures described in this report have not been previously documented in Rett syndrome. We review and discuss pathophysiological hypotheses in the light of this and previously reported cases of the syndrome.

[Peripheral facial paralysis. The value of clinical neurophysiology]. / Parálisis facial periférica. Utilidad de la neurofisiología clínica.

AIMS: The aim of this study was to review the value of neurophysiological exploration in peripheral facial paralysis in the literature and in our own experience. METHOD: Peripheral facial paralysis is a frequently occurring cranial neuropathy with an acute presentation. Its striking clinical expression is usually in strong contrast to its benign prognosis, except for a small percentage of cases in which the existence of acute injury to the nerve (axonotmesis) will cause it to progress unfavourably, either due to the absence of nerve regeneration or because this is inadequate or insufficient. A neurophysiological study aids diagnosis and the functional and prognostic assessment. CONCLUSIONS: We recommend the utilisation of standardised studies involving a comprehensive electromyographic and electroneurographic evaluation of the facial territory, including reflexology (blink reflex). Use of a suitable methodology in the neurophysiological study of this neuropathy will allow us to complete the diagnosis and to evaluate progress, even from very early days (early surgical approach prior to the onset of nerve degeneration), all of which is decisive in the prognosis of injury throughout the process.

Parálisis facial periférica. Utilidad de la neurofisiología clínica / Peripheral facial paralysis. The value of clinical neurophysiology

Objetivo. Revisar la utilidad de la exploración neurofisiológica en la parálisis facial periférica en la bibliografía y en nuestra experiencia. Desarrollo. La parálisis facial periférica es una neuropatía craneal de aparición frecuente y presentación aguda. Su llamativa expresión clínica contrasta la mayor parte de las veces con un pronóstico benigno, a excepción de un pequeño porcentaje de casos en los que la existencia de una lesión aguda del nervio (axonotmesis) determina una evolución desfavorable, bien por la ausencia de regeneración nerviosa o por ser ésta inadecuada o insuficiente. El estudio neurofisiológico ayuda en el diagnóstico y en la valoración funcional y el pronóstico. Conclusiones. Recomendamos la realización de estudios estandarizados en los que se incluya una evaluación amplia electromiográfica y electroneurográfica del territorio facial, incluida la reflexología (reflejo de parpadeo). Una adecuada metodología en el estudio neurofisiológico de esta neuropatía va a permitir completar el diagnóstico y valorar la evolución, incluso desde los primeros días (puede indicar un abordaje quirúrgico precoz previo al inicio de la degeneración nerviosa), todo lo cual resulta determinante de cara al pronóstico lesional del proceso (AU)

[Peduncular hallucinosis associated with a space occupying lesion of the brain stem]. / Alucinosis peduncular asociada a un proceso expansivo del tronco cerebral.

INTRODUCTION: Traditionally visual hallucinations have been divided into simple and complex. Complex hallucinations due to disorder of the brainstem have been described, and this process referred to as peduncular hallucinosis. CLINICAL CASE: A 74 year old woman with a history of endometrial carcinoma with metastases to bones and lungs, was admitted for progressive ataxia and paraesthesias of the left half of her body. During her admission to hospital she had complex visual hallucinations of cartoon animals, animals, people and geometrical figures. The patient herself realized that they were hallucinations. On cerebral computerized tomography there was a space occupying lesion in the pons-midbrain region of the brainstem. In the clinical context of this particular patient, it was considered to probably be a metastasis from the carcinoma of the endometrium. CONCLUSIONS: Apart from its theoretical interest, peduncular hallucinosis has well defined stereotyped characteristics, and recognition of these may be useful in topographical diagnosis of the lesion.

[Carcinomatosis of the choroid plexus: clinical case and necropsy findings]. / Carcinomatosis de plexos coroideos: caso clínco y hallazgos necrópsicos.

INTRODUCTION: Carcinomas of the choroid plexus are a rare malignant variety of papillary tumours which originate in the choroid plexus. Their occurrence in adults has been questioned because of the difficulty in differentiating them from the metastases of adenocarcinomas. CLINICAL CASE AND CONCLUSIONS: We present the case of a 57 year old man with a rapidly progressive illness characterized by disorientation, behaviour changes and amnesia, progressive deterioration of the level of consciousness until he was in deep coma and died (all within one month). There was no clinical evidence of the presence of a primary extra-cranial tumour. On magnetic resonance there was obliteration of the ventricular system with a protein material and thickening and increased marking of the ependyma walls, compatible with ventriculitis. Necropsy, limited to the skull, showed the presence of a malignant infiltrating tumour with papillary morphology, which affected the choroid plexuses of the whole ventricular system, infiltrated the adjacent nervous tissue and extended to the leptomeninges. These findings suggest a differential diagnosis between carcinoma of the choroid plexus and metastatic meningeal carcinoma.