RESUMEN
CASE REPORT: A fetus with rhombencephalosynapsis and prenatally diagnosed tetrasomy 9p is reported. Chromosomal analysis from amniocyte culture revealed non-mosaic supernumerary chromosome identified as isochromosome 9p (9p24-->q13::q13-->p24). Ultrasound scan revealed intrauterine growth retardation, renal anomalies, cardiac anomalies, ventriculomegaly, and agenesis of cerebellar vermis with fusion of the cerebellar hemispheres. CONCLUSION: Although most cases of cerebellar vermis agenesis in tetrasomy 9p are described with cystic malformation such as Dandy-Walker anomaly, our case indicates that this chromosomal disorder should be taken into account in fetuses with the development of cystic and non-cystic malformations of cerebellar vermis and posterior fossa.
Asunto(s)
Anomalías Múltiples/genética , Aberraciones Cromosómicas , Cromosomas Humanos Par 9 , Feto/anomalías , Rombencéfalo/anomalías , Anomalías Múltiples/diagnóstico por imagen , Anomalías Múltiples/embriología , Adulto , Resultado Fatal , Femenino , Humanos , Cariotipificación , Masculino , Embarazo , Diagnóstico Prenatal/métodos , Rombencéfalo/diagnóstico por imagen , Rombencéfalo/embriología , UltrasonografíaRESUMEN
We report on a case of fetal toxicity due to maternal treatment with olmesartan medoxomil. At 29 weeks' gestation, oligohydramnios was found, although the fetus had normal kidneys on ultrasound evaluation. Withdrawal of olmesartan medoxomil, maternal rehydration, and a single dose of furosemide reversed the renal impairment. After term delivery, the neonate was confirmed to have normal renal function. The case suggested that fetal renal impairment due to olmesartan medoxomil may be reversible.