RESUMEN
Neurocutaneous melanosis (NCM) is a rare congenital noninheritable phacomatosis characterized by large and/or numerous cutaneous congenital melanocytic naevi (CMN) in combination with melanocytic leptomeningeal tumours. Dandy-Walker malformation (DWM) consists of a cystic dilatation of the fourth ventricle communicating with the posterior fossa, and a high insertion of the tentorium and hypoplasia/aplasia of the cerebellar vermis (partially caused by Zic1(+/-)Zic 4(+/-) on 3q2). An association of NCM and DWM is very rare, with only 15 previously reported cases to our knowledge. We present an 8-year-old girl with multiple CMN and DWM. A ventriculoperitoneal shunt operation was performed when she was 1 day old. Her neurological symptoms to date comprise headaches, nausea and vomiting as a result of ventriculoperitoneal shunt dislocation at the age of 4 years. The diagnosis is provisional asymptomatic multiple CMN-type NCM in association with DWM.
Asunto(s)
Síndrome de Dandy-Walker/complicaciones , Melanosis/complicaciones , Síndromes Neurocutáneos/complicaciones , Niño , Síndrome de Dandy-Walker/diagnóstico , Femenino , Humanos , Imagen por Resonancia Magnética , Melanosis/diagnóstico , Melanosis/cirugía , Síndromes Neurocutáneos/diagnóstico , Síndromes Neurocutáneos/cirugía , Tomografía Computarizada por Rayos X , Derivación VentriculoperitonealRESUMEN
Amniotic fluid of normal pregnancies and of pregnancies complicated with light to moderate EPH-toxaemias was investigated for oestrogens. No differences were found between normal and toxaemic pregnancies. Oestrogens increased significantly with proceeding gestational age. When amniotic fluid of normal pregnancies was analyzed for oestrogens and cortisol a significant correlation between the two hormones could be demonstrated. This is interpreted as an expression of the metabolic activity of the fetal adrenal cortex.