Cases reported "Fetal Diseases"

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1/9. Contribution of transvaginal ultrasonography and fetal cerebral MRI in a case of congenital cytomegalovirus infection.

    cytomegalovirus is the most common cause of congenital viral infection. In utero this infection is usually suspected on the basis of ultrasound findings. We present a case in which routine ultrasound examination demonstrated a decrease in fetal cephalic dimensions at 32 weeks' gestation in an asymptomatic patient. Transvaginal ultrasound revealed echogenic vessels in the thalami and lesions in the subependymal region. Suspected diagnosis of fetal cytomegalovirus infection was confirmed by positive titers of anti-cytomegalovirus-IgM antibodies in fetal blood and amniotic-fluid PCR studies. Fetal cerebral MRI demonstrated parenchymal atrophy and polymicrogyria. The parents decided to terminate the pregnancy, and necropsy confirmed the diagnosis. Suspicion of CMV fetal infection should prompt transvaginal ultrasound and fetal brain MRI.
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2/9. Hereditary subependymal heterotopia associated with mega cisterna magna: antenatal diagnosis with magnetic resonance imaging.

    Bilateral nodular subependymal heterotopia has recently been identified as a hereditary disease linked to the X-chromosome. The sonographic findings are very subtle and difficult to observe during the second trimester when the germinal matrix is at its largest. Fetal magnetic resonance imaging facilitates visualization of the periventricular area. We report a case of bilateral nodular heterotopia associated with mega cisterna magna diagnosed by ultrasound and magnetic resonance imaging at 29 weeks' gestation. magnetic resonance imaging of the brain of the mother revealed similar findings to those observed in the fetus and neonate. This case confirms the association between mega cisterna magna and bilateral periventricular nodular heterotopia and demonstrates that neuroimaging studies of the mother can contribute to the fetal diagnosis.
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keywords = subependymal
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3/9. Cardiac rhabdomyoma with tuberous sclerosis: a case report.

    BACKGROUND: Rhabdomyomas are the most common benign cardiac neoplasms occurring in the fetus and neonate, with most of them identified within the first year of life. Cardiac rhabdomyomas are frequently associated with tuberous sclerorosis. CASE: A 25-year-old, pregnant woman with no remarkable personal or family history was referred to us for a suspected fetal cardiac anomaly. Ultrasonographic examination of the fetus revealed multiple solid masses consistent with rhabdomyoma in the ventricular septum and ventricular wall. No other anomalies could be detected. Postnatal echocardiography confirmed the presence of cardiac rhabdomyoma, and periventricular subependymal multiple hamartomas were diagnosed by postnatal magnetic resonance imaging. CONCLUSION: When fetal cardiac rhabdomyoma is diagnosed, careful evaluation of other fetal structures, including brain and renal parenchyma, should be performed to search for signs of tuberous sclerosis.
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4/9. tuberous sclerosis with cardiac rhabdomyoma manifested by fetal bradycardia: report of a case.

    This is a case of neonatal tuberous sclerosis associated with cardiac rhabdomyoma and manifested by fetal cardiac arrhythmia-bradycardia. The prenatal echocardiography showed multiple cardiac tumors which occupied the left and right ventricles. The largest one measured 5.2 cm in diameter. It was found to be 4.5 x 4.1 x 3.5 cm in size at autopsy. A postnatal cranial echogram showed multiple subependymal nodules. The patient expired after 7 hours of life. The autopsy findings confirmed the diagnosis. The mother of the patient had adenoma seb'aceum on the face and an ungual fibroma on the left little finger. Cranial computerized tomography revealed a small calcified tubercle.
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keywords = subependymal
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5/9. brain hemorrhages in cocaine-exposed human fetuses.

    Autopsies of 4 fetuses exposed to maternal cocaine are reported. brain examination revealed hemorrhages in 3 of the fetuses involving the germinal matrix. The hemorrhages resembled subependymal germinal matrix hemorrhages seen as postnatal complications in premature infants with idiopathic respiratory distress syndrome. One of the placentas had sonographic evidence of abruption which could not be confirmed pathologically. The findings are discussed in light of reports of neurobehavioral deficits and other congenital anomalies in children and animals exposed to cocaine in utero. Speculations about the pathophysiologic events leading to these findings are made.
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6/9. Congenital posthemorrhagic hydrocephalus: report of a case.

    A newborn infant with hydrocephalus was found to have residua of subependymal-intraventricular hemorrhage and associated obliterative arachnoiditis. This process is well known in the postnatal period but not as an in utero event. The present article documents antenatal intraventricular hemorrhage as a cause of hydrocephalus.
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7/9. Fetal respiratory distress causing CNS and inner ear hemorrhage.

    Fifty-two consecutive temporal bones of infants who died neonatally, or in utero of natural causes, were studied. Complete autopsies were performed. Twenty-eight infants had a variety of pulmonary disorders which resulted in severe respiratory distress prior to their death. Of these, the majority had bleeding intracranially and into the inner ear. There were five major pathways of central nervous system and subarachnoid hemorrhage involvement of the inner ear: 1) the modiolus, 2) cochlear aqueduct, 3) retrograde via the cochlear vein, 4) episodes of spontaneous bleeding into various compartments of the inner ear, and 4) hemorrhage via the otic capsule. The remaining 24 infants died of other natural causes. Two had CNS bleeding with no extension to the inner ear. We propose that there is a syndrome which consists of 1) neonatal respiratory distress, 2) intracranial hemorrhage, and 3) bleeding into the inner ear--an extension of a subarachnoid or subependymal matrix bleeding diathesis.
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keywords = subependymal
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8/9. Congenital hydrocephalus secondary to intra-uterine germinal matrix/intraventricular haemorrhage.

    An infant with hydrocephalus which had been diagnosed at birth died at one month of age. Subsequent neuropathological studies demonstrated old germinal matrix haemorrhage and complete occlusion of the aqueduct of Sylvius by fibroglial tissue, both of which appeared to be older than four weeks, indicating that they had occurred in utero. These observations are consistent with the occurrence of intra-uterine intraventricular haemorrhage secondary to haemorrhage of the subependymal germinal matrix, leading to occlusion of the aqueduct of Sylvius and hydrocephalus prior to birth.
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keywords = subependymal
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9/9. prenatal diagnosis of periventricular hemorrhage by fetal brain magnetic resonance imaging.

    Following the incidental diagnosis of triventricular hydrocephalus in a fetus 34 weeks after the mother's last menstrual period, during an uneventful pregnancy, 1.5-T brain magnetic resonance (MR) was carried out. A subependymal hemorrhage, which had not been revealed by transabdominal ultrasound, was found; this finding was confirmed by neonatal brain ultrasound and MR. Fetal MR allowed identification of the hemorrhage as the cause of the hydrocephalus and also established its time of occurrence. Unexplained hydrocephalus should be included among the indications for fetal MR.
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keywords = subependymal
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