RESUMO
BACKGROUND AND OBJECTIVES: Steinert's disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues and a great phenotypical variability, which implies that it has to be addressed by different specialities with experience in the disease. The knowledge of the disease and its management has changed dramatically in recent years. This guide tries to establish recommendations for the diagnosis, prognosis, follow-up and treatment of the complications of MD1. MATERIAL AND METHODS: Consensus guide developed through a multidisciplinary approach with a systematic literature review. Neurologists, pulmonologists, cardiologists, endocrinologists, neuropaediatricians and geneticists have participated in the guide. RECOMMENDATIONS: The genetic diagnosis should quantify the number of CTG repetitions. MD1 patients need cardiac and respiratory lifetime follow-up. Before any surgery under general anaesthesia, a respiratory evaluation must be done. Dysphagia must be screened periodically. Genetic counselling must be offered to patients and relatives. CONCLUSION: MD1 is a multisystemic disease that requires specialised multidisciplinary follow-up.
Assuntos
Aconselhamento Genético , Distrofia Miotônica/diagnóstico , Distrofia Miotônica/genética , Guias de Prática Clínica como Assunto/normas , Transtornos de Deglutição , Seguimentos , Humanos , Distrofia Miotônica/complicaçõesRESUMO
The TSC2 gene responsible for Tuberous Sclerosis, is located in chromosome 16p 13.3, adjacent to the gene for autosomal dominant polycystic kidney disease. A large deletion can involve both genes, causing the so-called TSC2/PKD1 contiguous gene syndrome (MIM#600273). It is characterized by congenital renal cysts, or their early onset in patients with tuberous sclerosis, and implies a worst prognosis in renal disease. We report the case of a five year-old boy with tuberous sclerosis, who presented with multiple large bilateral renal cysts in the neonatal period. A genetic confirmation study was later performed using the multiple ligation probe amplification (MLPA) technique.
Assuntos
Deleção de Genes , Rim Policístico Autossômico Recessivo/genética , Canais de Cátion TRPP/genética , Esclerose Tuberosa/genética , Proteínas Supressoras de Tumor/genética , Criança , Humanos , Masculino , Síndrome , Proteína 2 do Complexo Esclerose TuberosaRESUMO
INTRODUCTION: Autoimmune encephalitis against N-methyl-D-aspartate (NMDA) receptors is being diagnosed more and more frequently in the paediatric age. It should be suspected in children with psychiatric symptoms, encephalopathy, abnormal movements or epileptic seizures. Paraneoplastic cases are less frequent than in adults. CASE REPORT: We report the case of a boy, 2.5 years of age, with subacute encephalopathic signs and symptoms and epileptic seizures followed by behaviour disorders, neurological regression, dyskinesias and insomnia. Results of a cerebrospinal fluid study were normal, the magnetic resonance scan of the head revealed a focal periventricular lesion and diffuse leptomeningeal uptake; moreover, the serial electroencephalograms showed high-amplitude delta activity interspersed with generalised intercritical epileptiform activity. The patient was given empirical treatment with high doses of corticoids and intravenous immunoglobulins with no response. After showing up positive for antibodies against the NMDA receptor, plasmapheresis was begun, which led to his swift and spectacular recovery. After more than 18 months' follow-up, his sequelae are limited to mild behavioural and language alterations. He has had no relapses and has not needed any kind of maintenance treatment. CONCLUSIONS: Anti-NMDA encephalitis is a treatable disorder and, sometimes, the first evidence of an underlying neoplasia, which makes its early recognition and treatment essential. Treatment of the non-paraneoplastic forms are based on immunotherapy: glucocorticoids, intravenous immunoglobulins, plasmapheresis and immunosuppressants. Plasmapheresis can bring about a fast, spectacular improvement.
Assuntos
Encefalite Antirreceptor de N-Metil-D-Aspartato/terapia , Plasmaferese , Encefalite Antirreceptor de N-Metil-D-Aspartato/líquido cefalorraquidiano , Encefalite Antirreceptor de N-Metil-D-Aspartato/complicações , Encefalite Antirreceptor de N-Metil-D-Aspartato/diagnóstico , Encefalite Antirreceptor de N-Metil-D-Aspartato/imunologia , Transtornos de Deficit da Atenção e do Comportamento Disruptivo/etiologia , Autoanticorpos/imunologia , Autoantígenos/imunologia , Pré-Escolar , Eletroencefalografia , Emergências , Epilepsias Parciais/etiologia , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Transtornos do Desenvolvimento da Linguagem/etiologia , Imageamento por Ressonância Magnética , Masculino , Bandas Oligoclonais , Receptores de N-Metil-D-Aspartato/imunologia , Indução de RemissãoRESUMO
INTRODUCTION: There are very few studies on the aetiology of temporal lobe epilepsy (TLE) in childhood. The purpose of the present study is to analyse the data of 61 children diagnosed with TLE, in order to describe the aetiology of TLE in children seen in a neuropaedriatic clinic. We also discuss the currently proposed classification. PATIENTS AND METHODS: A retrospective analysis was carried out on patients diagnosed with TLE. Patients consisted of 61 children less than 15 years old. RESULTS: Patients were classified into three groups: Group 1 (symptomatic temporal lobe epilepsy) consisted of 25 patients (40.98 %) with any temporal lesion on neuroimaging (tumours, malformations or infections) or significant history; Group 2 (Mesial temporal sclerosis) consisted of 17 patients (27.86 %), a history of simple and complex febrile seizure were common in this group; and Group 3 (Cryptogenic epilepsy) consisted of 19 patients (31.15 %) with no abnormalities on neuroimaging or significant history. CONCLUSION: To our knowledge, this is the largest paediatric series of childhood new-onset TLE assessed only by MRI in the literature. We have modified the previous aetiological classification in order to make the groups more realistic.
Assuntos
Epilepsia do Lobo Temporal/classificação , Epilepsia do Lobo Temporal/etiologia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Estudos RetrospectivosAssuntos
Aspergilose/complicações , Encéfalo/patologia , Calcinose/etiologia , Calcinose/patologia , Pneumopatias Fúngicas/complicações , Adulto , Anfotericina B/uso terapêutico , Antifúngicos/uso terapêutico , Aspergilose/tratamento farmacológico , Aspergilose/patologia , Calcinose/diagnóstico , Feminino , Humanos , Hospedeiro Imunocomprometido , Pneumopatias Fúngicas/tratamento farmacológico , Pneumopatias Fúngicas/patologiaRESUMO
INTRODUCTION: Neurosyphilis is a recognised cause of epileptic seizures, but its association with periodic lateralised epileptiform discharges (PLED) has been described only rarely, in spite of the fact that it gives rise to acute vascular lesions. CLINICAL CASE: We report the case of a male patient who was diagnosed as having meningovascular syphilis after the onset of tonic clonic epileptic seizures and PLED in the left frontotemporal region. The initial neurological exploration revealed a syndrome of confusion and mild mixed, but predominantly motor, dysphasia. In complementary tests, the most noteworthy features were positive luetic serology in the blood and in cerebrospinal fluid (CSF), which was confirmed by means of treponemic assays. The patient was treated with penicillin for two weeks. The study was completed with a magnetic resonance (MR) brain scan that showed a small left temporal infarction, which was the origin of the clinical and electrical convulsive activity. The patient s evolution was satisfactory, with an improvement in the language disorder, and the seizures were controlled after the administration of phenytoin. The control electroencephalogram (EEG) that was performed later only showed a slowing in the known injured area. CONCLUSIONS: PLED are an infrequent electroencephalographic pattern whose appearance has been linked with acute brain lesions, mainly with strokes, tumours and meningoencephalitis. When, exceptionally, they appear as a consequence of an ischemia secondary to meningovascular syphilis their significance, clinical features and prognosis do not differ from other causes of a cerebrovascular disease.
Assuntos
Eletroencefalografia , Epilepsia Tônico-Clônica/etiologia , Neurossífilis/diagnóstico , Alcoolismo/complicações , Anticonvulsivantes/uso terapêutico , Isquemia Encefálica/etiologia , Infarto Cerebral/complicações , Epilepsia Tônico-Clônica/tratamento farmacológico , Epilepsia Tônico-Clônica/fisiopatologia , Humanos , Transtornos da Linguagem/etiologia , Masculino , Pessoa de Meia-Idade , Neurossífilis/complicações , Neurossífilis/tratamento farmacológico , Neurossífilis/fisiopatologia , Penicilinas/uso terapêutico , Fenitoína/uso terapêutico , Fumar , Sorodiagnóstico da SífilisRESUMO
INTRODUCTION: Juvenile myasthenia gravis (JMG) is an infrequent autoimmune disease, the symptoms and therapeutic handling of which do not differ from those of the adult forms. Chronic treatment with corticoids very often causes side effects in childhood, which is why patients are being submitted to thymectomies at younger ages with better results. AIMS. To analyse the clinical and evolutionary profile of JMG treated by thymectomy in our centre. PATIENTS AND METHODS: We report the case of four girls aged between 5 and 13 who were diagnosed as suffering from generalised myasthenia gravis (MG) with bulbar affectation. One of them started with a myasthenic crisis. The four of them were submitted to Tensilon s test, an electrophysiological study, determination of AChR, thoracic CT, and study of autoimmunity and thyroid functioning. After surgery the thymus was analysed histologically. RESULTS: They all gave positive in Tensilon s test and were seropositive for AChR. They were treated with anticholinesterases, up to the maximum tolerated dose, and corticoids, without complete remission being accomplished and so they were submitted to a thymectomy in the first year of evolution. In three cases surgical approach was transsternal and in the other by means of a videothoracoscope. All the thymuses showed lymphoid hyperplasia. After a variable follow up the girls are at present asymptomatic, although none of them has been able to completely give up the pharmacological treatment. CONCLUSIONS: Thymectomy is one of the mainstays of treatment for JMG. The ever more frequent use of videothoracoscopic techniques achieves results that are similar to those obtained by conventional surgery but with fewer post operative and aesthetic problems