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The Publisher regrets that this article is an accidental duplication of an article that has already been published, https://doi.org/10.1016/j.jpainsymman.2018.03.023. The duplicate article has therefore been withdrawn. The full Elsevier Policy on Article Withdrawal can be found at https://www.elsevier.com/about/our-business/policies/article-withdrawal.
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AIMS: Fabry disease (FD) is an X-linked inborn error of metabolism caused by alpha-galactosidase A deficiency. The Fabry Registry is an ongoing, global observational database that compiles clinical data from patients with FD. METHODS: Demographic and baseline clinical characteristics of Fabry Registry patients enrolled in Argentina were analysed and compared with patients enrolled in the rest of the world (ROW). Baseline clinical parameters included chronic kidney disease (CKD) stage, urine protein-to-creatinine ratio and left ventricular posterior wall thickness. Only data from untreated patients were included. RESULTS: As of 1 October 2010, 3752 patients were enrolled in the Registry, 70 patients from Argentina and 3682 from the ROW. Argentinean male subjects were younger than Fabry Registry male subjects enrolled in ROW: mean current age 32.5 years vs. 39.0 years for men (p = 0.0257 by t-test). The current age (mean ± standard deviation) of female subjects enrolled in Argentina was not significantly different from that of female subjects enrolled in the ROW: 40.1 ± 17.28 vs. 43.2 ±17.95 years respectively (p = 0.2967). Overall, a smaller percentage of patients from Argentina received ERT compared with patients in the ROW (54% vs. 58% respectively). When evaluated by gender, more men and fewer women in Argentina received ERT compared with ROW (85% vs. 79% for men and 27% vs. 38% for women). A larger proportion of patients in ROW had severe CKD (stage 4 or 5) compared with Argentina (9.8% vs. 0%), most likely because of the older age of the ROW population. CONCLUSIONS: The enrolment of Argentinean patients into the Fabry Registry has steadily increased, as has the inclusion of female and paediatric patients with FD. The medical community in Argentina should be aware of FD in these populations, as awareness will facilitate prompt diagnosis and initiation of treatment, thus leading to improved outcomes.
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Doença de Fabry/epidemiologia , Adolescente , Adulto , Distribuição por Idade , Idade de Início , Idoso , Argentina/epidemiologia , Criança , Pré-Escolar , Terapia de Reposição de Enzimas/estatística & dados numéricos , Doença de Fabry/tratamento farmacológico , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Sistema de Registros/estatística & dados numéricos , Distribuição por Sexo , Adulto JovemRESUMO
UNLABELLED: Fabry disease is a rare, X-linked lysosomal storage disease caused by an inborn deficiency of alpha-galactosidase A, which results in the progressive accumulation of globotriaosylceramide and other neutral glycolipids in a range of cells and tissues. In association with the renal and cardiac insufficiency, cerebrovascular complications can result in the death of the patients. Several mechanisms causing vascular damage that leads to the development of deep-white matter lesions have been described. Recent clinical trials strongly suggest that statins protect against stroke by neuroprotective properties or pleiotropic effects. AIM: To evaluate evidence and potential beneficial effects of statins in the vasculopathy of Fabry disease.
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Doença de Fabry/tratamento farmacológico , Inibidores de Hidroximetilglutaril-CoA Redutases/uso terapêutico , Anti-Inflamatórios/uso terapêutico , Formação de Conceito , Doença de Fabry/complicações , Fibrinolíticos/uso terapêutico , Humanos , Doenças Vasculares/etiologia , Doenças Vasculares/prevenção & controleRESUMO
AIMS: The purpose of this study was to review the peripheral neurological aspects of Anderson-Fabry disease (AFD). DEVELOPMENT: AFD is a disease caused by lysosomal deposits that was first reported in 1898. This entity has begun to attract renewed interest in recent years because of the progress made in diagnostic techniques and the appearance of enzyme replacement therapy. This pathological condition is transmitted by recessive inheritance linked to the X chromosome and results from a deficiency of the enzyme alpha-galactosidase A, which leads to the accumulation of glycosphingolipids in endothelial and perithelial cells, as well as those of the smooth muscles in blood vessels, the dorsal root ganglia and other structures in the central and peripheral nervous systems. Symptoms during childhood include: neuropathic pain that is predominantly distal in the four limbs (and expresses itself as severe attacks that are often linked to changes in temperature and exercise that interfere with daily activities), hypohidrosis and angiokeratomas. The most serious complications appear during adulthood and include: kidney failure, heart failure and strokes. CONCLUSION: The arrival of enzyme replacement therapy is the first part of a chain in the treatment of AFD, where gene therapy and substrate inhibition therapy are beginning to emerge as real therapeutic alternatives. In spite of all this, at present, the management of painful symptoms is not at all satisfactory for patients and therefore further study and a deeper understanding of the mechanisms involved will allow more specific and effective therapeutic measures to be developed with which to provide patients with greater relief.
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Doença de Fabry/fisiopatologia , Doenças do Sistema Nervoso Periférico/fisiopatologia , Diagnóstico Diferencial , Doença de Fabry/genética , Doença de Fabry/terapia , Terapia Genética , Humanos , Doenças do Sistema Nervoso Periférico/terapiaRESUMO
INTRODUCTION: Sensory motor multifocal acquired demyelinating neuropathy (SMMADN) is a variant of the chronic multifocal neuropathies. Several reports have been published about the clinical and electrophysiological progression in motor multifocal neuropathy (MMN) prior to and following immunoglobulin (Ig) therapy, but we have found no reports that deal with SMMADN. AIMS: We describe a case of SMMADN in which we conducted a clinical and electrophysiological evaluation before and after therapy with Ig UNC Hemoderivados. CASE REPORT: Female, 40 years of age, who presented asymmetrical weakness in all four limbs which she had been suffering for 12 years. We observed distal muscular atrophies, notable weakness and paresthesias in the four limbs. Electrophysiological studies revealed demyelinating neuropathy with secondary axonal involvement. Intravenous Ig was indicated. We observed a clear improvement in muscular strength, and changes in motor and sensory conduction speeds, but not in the amplitudes of the respective potentials. CONCLUSION: SMMADN is a chronic sensory motor multiple mononeuropathy that begins in the upper limbs and progresses asymmetrically down towards the lower members. The most usual sensory disorders are distal paresthesias. Electrophysiology presents conduction blockages, temporal dispersion, prolongation of the distal latencies, diminished conduction speeds, absence or prolongation of the F wave in one or more motor nerves, and abnormal sensory conduction speed. Accepted treatment is with Ig and, in some cases, with corticoids. In our case, the variations that were obtained could be explained by myelin reconstitution following the immunomodulatory effect of Ig and the axonal involvement that existed due to the secondary sequelae of the inflammatory process.
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Imunização Passiva , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica , Adulto , Doenças Autoimunes/diagnóstico , Doenças Autoimunes/imunologia , Doenças Autoimunes/fisiopatologia , Eletrodiagnóstico , Feminino , Humanos , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/diagnóstico , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/tratamento farmacológico , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/imunologiaRESUMO
INTRODUCTION: Herpes simplex encephalitis (HSE) is the most common cause of infectious encephalitis at all ages. The usual presentation includes a high temperature, headache and confusion associated with convulsions and signs of a focal neurological deficiency. The typical findings shown by magnetic resonance imaging (MRI) consist of hyperintense lesions, in T2 and FLAIR sequences, especially in the medial and inferior temporal lobe. AIMS. The aim of this paper is to report a case of HSE that associated a cerebral haematoma (CH) in its clinical course. CASE REPORT: A 69 year old female patient who was admitted to hospital because of a syndrome of high temperature, confusion and urinary infection. Studies of the cerebrospinal fluid showed only a slight pleocytosis, and a polymerase chain reaction (PCR) for the herpes simplex virus (HSV) was required. Initial MRI scanning showed an image that was compatible with cerebritis in the left parieto occipital lobe. A later RMI scan revealed a cerebral haematoma in the left parieto occipital lobe, together with new haemorrhagic foci in the bifrontal and in the right temporal lobes. The haematoma was drained surgically and empirical therapy was begun with acyclovir, and later a positive HSV PCR was received. The patient responded favourably to the therapy and was discharged from hospital. DISCUSSION: A variety of atypical presentations in HSE have been reported. Our case presented scant pleocytosis, infrequent lesion topography and coursed with CH. Only a few cases of this last occurrence have been reported in the literature. CONCLUSION: The presence of infrequent features, such as CH, within the framework of the clinical features of encephalopathy cannot exclude the possible existence of HSE.