RESUMEN
We report a fetus with exencephaly diagnosed by fetal magnetic resonance imaging (MRI) at 17 weeks of gestation. Fetal ultrasound performed at 13 and 17 weeks of gestation suggested occipital encephalocele. However, the fetal MRI done at 17 weeks of gestation showed exencephaly and suggested amniotic bands as the cause. By providing early and precise information regarding the abnormality and the possible etiology, the fetal MRI enabled us to provide the couple and their families with accurate information regarding the low recurrence risk of this condition.
Asunto(s)
Anomalías Múltiples , Síndrome de Bandas Amnióticas/complicaciones , Imagen por Resonancia Magnética , Defectos del Tubo Neural/diagnóstico , Diagnóstico Prenatal/métodos , Feto Abortado/anomalías , Aborto Eugénico , Adulto , Síndrome de Bandas Amnióticas/diagnóstico , Pie Equinovaro , Femenino , Edad Gestacional , Humanos , Recién Nacido , Defectos del Tubo Neural/embriología , Embarazo , Cráneo/anomalías , Ultrasonografía PrenatalRESUMEN
Smith-Lemli-Opitz syndrome (RHS) (SLOS, OMIM 270400) is an autosomal recessive disorder of cholesterol biosynthesis caused by mutations of the 3beta-hydroxysterol Delta(7)-Delta(8)-reductase gene, DHCR7. We report a fetus with holoprosencephaly and multiple congenital anomalies who was homozygous for the IVS8-1G-->C mutation. Following termination of pregnancy, both the elevated amniotic fluid 7-dehydrocholesterol level and the DHCR7 mutations were demonstrated. Two other newborn infants with IVS8-1G-->C/IVS8-1G-->C genotype are described. This report illustrates a severe phenotypic extreme of SLOS associated with a null genotype, underscores the complex relationship between SLOS and holoprosencephaly, and discusses the possible pathogenetic mechanisms of the development of holoprosencephaly in SLOS.
Asunto(s)
Oxidorreductasas actuantes sobre Donantes de Grupo CH-CH , Síndrome de Smith-Lemli-Opitz/genética , Secuencia de Bases , Resultado Fatal , Muerte Fetal , Feto , Genotipo , Holoprosencefalia/patología , Homocigoto , Humanos , Recién Nacido , Masculino , Oxidorreductasas/genética , Mutación Puntual , Síndrome de Smith-Lemli-Opitz/patologíaRESUMEN
A male neonate presented with an acute onset of severe intra-abdominal bleeding, haemorrhagic shock and multiple fractures leading to death on d 27. Menkes' disease was diagnosed at autopsy and confirmed by copper accumulation studies on cultured fibroblasts. Such an early onset of fatal complications in this condition has not been previously reported. New insights into the pathogenesis of Menkes' disease provided by DNA mutation analysis and difficulties in neonatal diagnosis are discussed. Menkes' disease should be considered in male infants with pathological fractures and other signs of connective tissue disease, even in the neonatal period.