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Revista chilena de obstetricia y ginecología

versión impresa ISSN 0048-766Xversión On-line ISSN 0717-7526

Resumen

RIVERA V., Christhian  y  VARGAS I., Paula. Intracranian hemorrhage in a fetus with Trisomy 21 and cardiac rhabdomyomas. Differential diagnosis of Tuberous Sclerosis. Antenatal study regarding a case. Rev. chil. obstet. ginecol. [online]. 2020, vol.85, n.3, pp.255-262. ISSN 0048-766X.  http://dx.doi.org/10.4067/S0717-75262020000300255.

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.

Palabras clave : Rhabdomyomas; Tuberous Sclerosis; Intracranial Hemorrhage; Trisomy 21.

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