Vasculitis aislada del sistema nervioso central que imita una encefalitis de Rasmussen / Isolated vasculitis of the central nervous system resembling Rasmussen´s encephalitis

No disponible

No disponible

[Cystinosis: an infrequent cause of distal myopathy]. / Cistinosis: una causa infrecuente de miopatía distal.

INTRODUCTION: Cystinosis is a hereditary disease with clinical symptoms that are caused by the accumulation of cystine crystals in different tissues. Distal vacuolar myopathy has been reported as one of its later complications. CASE REPORT: Here, we present the case of a 20-year-old male diagnosed with cystinosis at the age of 2 years, with severe renal involvement that required a transplant. The patient gradually developed weakness and atrophy of the muscles in his hands. Neurophysiological and histological studies enabled a diagnosis of distal vacuolar myopathy to be established, and electron microscopy revealed deposits of cystine crystals. CONCLUSIONS: Cystinosis must be included within the differential diagnosis of distal myopathies. Timely treatment with cysteamine could prevent the development of this complication.

Cistinosis: una causa infrecuente de miopatía distal / Cystinosis: an infrequent cause of distal myopathy

Introducción. La cistinosis es una enfermedad hereditaria cuyas manifestaciones clínicas se producen por la acumulación de cristales de cistina en diversos tejidos. Entre sus complicaciones tardías se ha descrito una miopatía distal vacuolar. Caso clínico. Se trata de un varón de 20 años, diagnosticado de cistinosis a los 2 años, con grave afectación renal que requirió trasplante. De forma insidiosa desarrolló debilidad y atrofia de los músculos de las manos. Mediante estudios neurofisiológicos e histológicos se estableció el diagnóstico de miopatía distal vacuolar, y se objetivaron depósitos de cristales de cistina en la microscopía electrónica. Conclusiones. La cistinosis debe incluirse en el diagnóstico diferencial de las miopatías distales. Un tratamiento precoz con cisteamina podría evitar el desarrollo de esta complicación

Introduction. Cystinosis is a hereditary disease with clinical symptoms that are caused by the accumulation of cystine crystals in different tissues. Distal vacuolar myopathy has been reported as one of its later complications. Case report. Here, we present the case of a 20-year-old male diagnosed with cystinosis at the age of 2 years, with severe renal involvement that required a transplant. The patient gradually developed weakness and atrophy of the muscles in his hands. Neurophysiological and histological studies enabled a diagnosis of distal vacuolar myopathy to be established, and electron microscopy revealed deposits of cystine crystals. Conclusions. Cystinosis must be included within the differential diagnosis of distal myopathies. Timely treatment with cysteamine could prevent the development of this complication

Spanish family with myalgia and cramps syndrome.

A Spanish family is reported with dystrophinopathy of myalgia and cramps syndrome type. There were five affected males and three females, and also six asymptomatic carriers. Muscle biopsy showed a dystrophic pattern, but immunohistochemistry carried out with three anti-dystrophin antibodies was normal. Dystrophin analysis by western blot revealed a dystrophin of reduced quantity and molecular weight. DNA analysis showed a deletion of the dystrophin gene involving exons 45-52. The natural history of this disorder and the large intrafamilial clinical variability are discussed.

Análisis de 18 pacientes diagnosticados de distrofia muscular de tipo Becker / Analysis of 18 cases of Becker muscular dystrophy

No disponible

No disponible

Hipertensión endocraneal aislada como única manifestación de meningitis carcinomatosa / Isolated intracranial hypotension as the only manifestation of meningitis carcinomatosa

No disponible

[Focal cortical dysplasia and refractory epilepsy. Surgical treatment]. / Displasia cortical focal y epilepsia farmacorresistente. Tratamiento con cirugía.

INTRODUCTION: Focal cortical dysplasia (FCD) is an unusual cause of refractory epilepsy, in which the morbid anatomy is characterized by cortical laminar dysplasia and the presence of balloon like cells. CLINICAL CASE: A 36 year old woman who had had drug-resistant epilepsy since the age of 9 years old, with daily complex partial seizures and seizures in which she fell to the ground. After many therapeutic trials, at the age of 29 years she had a callostomy as palliative treatment for the seizures in which she fell and was completely cured of these. The complex partial seizures increased in frequency, in spite of high doses of multiple drugs, so the possibility of resective surgery was considered. A surface EEG with predominant lateralization and localization to the left temporal lobe, ictal and interictal cerebral SPECT, PET and MR were done. The findings were comparable with two foci of dysplasia in the left cerebral hemisphere, one superior parietal and the other posterior basal temporal in situation. Finally, video-EEG monitoring with foramen ovale electrodes showed ictal activity starting in the left posterior temporal regions and with rapid homolateral anteromesial diffusion. A left temporal lobectomy and amigdalohippocampectomy was done with resection of a posterior basal temporal lesion. This reduced the number of seizures by 90%, with minimal dysnomy as a sequel. The findings on morbid anatomical study were compatible with a FCD. CONCLUSIONS: FCD is a cause of refractory epilepsy which may benefit from surgical treatment, with excellent results, after suitable pre-operative surgical evaluation and planning, including hippocampal evaluation since there is a high incidence of associated mesial sclerosis.

[Repeated strokes in a patient with a basilar artery aneurysm]. / Ictus de repetición en paciente con aneurisma de la arteria basilar.

INTRODUCTION: The estimated prevalence of basilar dolichoectasia in the healthy general population is 50 per 100,000 inhabitants. The treatment of symptomatic cases is controversial. Strokes caused by it may be due to thrombosis of the perforating arteries, arterio-arterial emboli or a compressive mechanism. CLINICAL CASE: We present the case of a 68 year old woman with repeated stokes in which the vertebrobasilar territory was involved. On neuroimaging there was basilar dolichoectasia associated with aneurismal dilatation of both internal carotid arteries. The patient died of massive subarachnoid hemorrhage after starting heparin treatment. At necropsy the aneurysmic dilatation was confirmed together with signs of arteriosclerosis of the arteries of the circle of Willis. CONCLUSIONS: Since subarachnoid hemorrhage secondary to rupture of a dolichoectasia is exceptional, some authors support the use of permanent anticoagulation rather than platelet antiaggregation in patients with conditions due to ischemia, in which dilatation is limited to the basilar artery. However, this is not suitable for cases with associated fusiform aneuryms, or cases such as ours in which the dolichoectasia extends beyond the basilar artery, to become generalized throughout all the arteries of the circle of Willis.

Ictus de repetición en paciente con aneurisma de la arteria basilar / Repeated strokes in a patient with a basilar artery aneurysm

Introducción. La prevalencia estimada de la dolicoectasia basilar en la población general sana es de 50/100.000 habitantes. El tratamiento de los casos sintomáticos es discutido. Los ictus con este origen pueden ser debidos a trombosis de arterias perforantes, embolia arterio-arterial o a un mecanismo compresivo. Caso clínico. Presentamos el caso de una paciente de 68 años de edad que presentó ictus de repetición en el territorio vertebrobasilar, comprobándose en las pruebas de neuroimagen la presencia de una dolicoectasia basilar asociada a dilatación aneurismática de ambas arterias carótidas internas. La paciente falleció por hemorragia subaracnoidea masiva tras instaurar tratamiento con heparina. El estudio necrópsico confirmó la dilatación aneurismática con signos arterioscleróticos de las arterias del polígono de Willis. Conclusiones. Dada la excepcionalidad de una hemorragia subaracnoidea secundaria a la ruptura de una dolicoectasia, algunos autores defienden el uso de la anticoagulación permanente frente al de antiagregantes plaquetarios en los pacientes con patología isquémica, en los que la dilatación queda limitada a la arteria basilar. Sin embargo, no sería conveniente en los casos con aneurismas saculares asociados, o en los pacientes como el nuestro, en los que la dolicoectasia sobrepasa el territorio basilar para generalizarse a todas las arterias del polígono de Willis (AU)

[Patient with Hansen disease and lepromatous reaction with predominant neural involvement]. / Paciente con enfermedad de Hansen y reacción lepromatosa con afectación neural predominante.

We describe a patient with a diagnosis of Hansen's disease borderline type, presenting as cutaneous lesions and silent multineuritis. Samples of nasal mucus, earlobe and cutaneous lesions were positive for acid-fast bacilli. He was given treatment with rifampin, dapsone and clofazimine. Five years later, he developed fever, poliarthritis, orchitis and hepatic involvement. Searching for acid-fast bacilli in many cutaneous and mucosal locations was fruitfulness. Because of clinical suspicion of erythema nodosum leprosum, he was treated with steroids with improvement of his clinical picture, but subsequently he developed multineuritis with many sensitive symptoms. A high number of bacilli was seen in nerve biopsy. We comment on atypical features of clinical evolution and erythema nodosum leprosum, and emphasize the significance of large number of bacilli into peripheral nerve in contrast with their absence at other levels.

[The efficacy of cyclosporin in the treatment of myositis]. / Eficacia de la ciclosporina en el tratamiento de las miositis.

Cyclosporin A (CyA) was used in 15 patients with corticosteroid-resistant myositis (11) and as a first-line drug (4). The criterion for improvement was recovery of strength. Additionally, changes in muscle enzyme values were evaluated. One patient left therapy because of gastric intolerance. Another patient, with severe pulmonary fibrosis, died 6 days after initiating therapy. In the other patients a favorable response was observed at approximately six weeks (range 3 weeks-3 months). Significant decreases in muscle enzyme values were observed. CyA was useful for treatment of corticosteroid-resistant patients. While it was efficient as a first line drug, the present report does not allow a comparative evaluation with corticosteroid therapy.

[Peripheral neuropathy in progressive systemic sclerosis]. / Neuropatía periférica en la esclerosis sistémica progresiva.

We report a patient that developed a sensorimotor polyneuropathy more than a year before the appearance of the typical clinical signs of progressive systemic sclerosis. A sural nerve biopsy showed epineural vasculitis with involvement of the basal membrane of the endoneural vessels, without proliferation of the connective tissue.

[Anatomoclinical correlations of spinal muscular atrophy in infancy]. / Correlaciones anatomoclínicas de las atrofias musculares espinales en la infancia.

Forty-three cases of infantile spinal muscular atrophy diagnosed in our department between 1977 to 1991 are presented. Following clinical-pathologic evaluation, 27 cases were included in type I, 7 in type II and 9 cases in type III. The most frequent pathologic finding was the presence of large groups of atrophic fibers and hypertrophy of isolated fibers in muscle biopsy. Enzyme study showed higher mean levels of CPK and aldolase in type I with respect to the other two. Likewise, a significant statistical difference was found in the age of onset of the different groups. Finally, the clinical classification of spinal muscular atrophies in infancy is discussed.