Hemorragia intracraniana en un feto con Trisomia 21 y rabdomiomas cardiacos. Diagnostico diferencial de Esclerosis Tuberosa. Estudio antenatal a propósito de un caso.

Abstract

ABSTRACT Introduction: Down Syndrome (DS) is one of the most frequent aneuploidies. In our country its incidence is 2.2 every 1000 newborns. Tuberous sclerosis (TS) is a dominant autosomal genetic disease with a prevalence of 1:6000 to 1:10.000 newborns, this disease is suspected by the finding of cardiac rhabdomyomas. Rhabdomyomas are the most prevalent fetal heart tumors. Intracranial tumors are a rare prenatal finding in ultrasound the main differential diagnosis is Intraventricular Hemorrhage (IVH). The Objective of this paper is present a case report of a fetus with trisomy 21 plus rhabdomyomas and cranial tumors. Case Report: 29 years old patient, referred for ultrasound at 27+4 week. Cardiac tumors and aneuploidy soft markers are found. Genetic amniocentesis is performed (Result: 47, XX+21). At 32+0 weeks ultrasound finding of intracranial tumor. Fetal MRI was performed which reports suspected IVH. Confirmed postnatally. Baby was delivered at term. Neonatal findings: Trisomy 21 phenotype, Echocardiogram with two cardiac tumors (Rhabdomyomas), neonatal brain ultrasound confirms Grade III – IVH. To rule out TS, an Angio-CT is performed which is negative for the disease. Discussion: Cardiac Tumors associated to brain tumors in antenatal period make TS a possible diagnosis. Differentiate brain tumors and IVH by ultrasound is very difficult. MRI is a very helpful tool for an accurate diagnostic. IVH is a rare antenatal diagnosis. Not reported before in a baby with trisomy 21.