RESUMEN
Familial visceral neuropathy (FVN) is a heterogeneous group of disorders due to abnormalities of the myenteric plexus. FVN with neuronal intranuclear inclusions is one particular form of FVN with a variable phenotype that includes achalasia, gastro-esophageal reflux, intestinal dysmotility and pseudo-obstruction, dysarthria, peripheral neuropathy and pupillary defects, and the presence of intranuclear inclusions within the neurons of the enteric nervous system. We present a four-generation family in which 10 individuals (7 of whom have been examined) are affected with FVN. The family was previously reported as familial esophageal achalasia, an autosomal recessive condition (MIM200400). At that time, several individuals in a single sibship were affected and there were no manifestations in either parent. Since that report, two individuals have had affected children and the mother has developed symptoms and has abnormalities on electromyography, thus enabling us to reclassify the family. This family provides further evidence of autosomal dominant inheritance, with marked variation in expression.
Asunto(s)
Anomalías Múltiples/patología , Seudoobstrucción Intestinal/patología , Plexo Mientérico/anomalías , Enfermedades del Sistema Nervioso Periférico/patología , Anomalías Múltiples/genética , Adolescente , Adulto , Anciano , Niño , Acalasia del Esófago/patología , Salud de la Familia , Femenino , Reflujo Gastroesofágico/patología , Genes Dominantes/genética , Humanos , Masculino , Persona de Mediana Edad , LinajeRESUMEN
Amniocentesis remains the most common prenatal diagnostic invasive procedure for fetal karyotyping. During counselling prior to this procedure miscarriage rates are often quoted as a single figure. In this review of 2924 amniocenteses, we report that miscarriage rates vary with the gestational age at which the procedure is performed. The total miscarriage rate was 1.0 per cent after early amniocenteses (11 + 0-14 + 6 weeks) and 1.2 per cent after traditional mid-trimester amniocenteses (15 + 0-18 + 6 weeks). The rate was greatest (3.1 per cent) for amniocenteses performed after 18 + 6 weeks' gestation. The cumulative miscarriage risk increased from 0.03 per cent one week after the procedure to plateau at 1.1 per cent five weeks after the procedure. The preterm and still-birth rates following amniocenteses were similar in early and traditional mid-trimester amniocenteses but were significantly higher when amniocenteses were performed after 19 weeks' gestation. Although the incidence of talipes equinovarus was higher after early amniocentesis compared with traditional mid-trimester amniocenteses (1.4 per cent versus 0.2 per cent), none of the affected infants required corrective surgery. We conclude that counselling for this procedure should be tailored to each unit's unintended fetal loss rate based on cumulative rates. Such figures should be available to parents to assist them in their decision-making.