Cases reported "Fetal Diseases"

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1/37. Hepatic hemangioendothelioma: prenatal sonographic findings and evolution of the lesion.

    We describe a case of hepatic hemangioendothelioma that was first suspected based on prenatal sonographic findings at 19 weeks' menstrual age. At 16 weeks, the patient presented with a markedly elevated maternal serum alpha-fetoprotein level. Serial sonographic examinations revealed that the fetus had cardiomegaly, hepatomegaly with a hepatic mass and dilated intrahepatic vessels, a single umbilical artery, and a placental chorioangioma. Arteriovenous shunting within the hepatic mass was seen using color Doppler and pulsed Doppler sonography. An enlarged artery arising from the abdominal aorta supplying the mass was demonstrated. Postnatal physical examination and radiologic studies supported the diagnosis of hepatic hemangioendothelioma. The evolution in the sonographic appearance of this hepatic lesion in utero over a 17-week period is described.
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keywords = physical examination, physical
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2/37. The natural history of varicella embryopathy: a 25-year follow-up.

    A patient with clinically and immunologically proven varicella embryopathy achieved substantial recovery after initial severe developmental delay and manages well with her residual physical disabilities in adulthood.
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ranking = 0.1878514007138
keywords = physical
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3/37. Radical surgery in a neonate with craniopharyngioma. report of a case.

    ultrasonography revealed a suprasellar tumor in a fetus at 28 weeks of gestation. The male newborn, delivered 10 weeks later, was operated at the age of 17 days, and a craniopharyngioma was completely removed. Intraoperatively, inappropriate secretion of antidiuretic hormone occurred and was followed by diabetes insipidus causing imbalance of fluid and electrolytes. The tumor recurred and was totally removed 1 year later. Further development was uneventful and, at the age of 8 years, the boy is in generally good mental and physical condition except for a left-sided hemiparesis. In contrast to the poor outcome of neonatal craniopharyngioma reviewed in the literature, this case may encourage radical surgery even in the very young.
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ranking = 0.1878514007138
keywords = physical
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4/37. Bilateral subpleural ectopic brain tissue in a 23-week-old fetus.

    Bilateral lesions were seen in the subpleural region in a 23-week-old aborted male fetus. This fetus was not macerated and showed no central nervous system abnormality on physical examination and vertebral magnetic resonance imaging (MRI). Postmortem examination revealed bilateral, paravertebral, subpleural, circumscribed, yellowish-white, fluent lesions 2.5 x 1 x 1 cm in size. These lesions were localized on the upper part of both lungs and there was no other internal malformation. Histological examination of lesions showed adult neurones and well-differentiated neural tissue with white and gray matter, choroid plexus, ependymal structures and, rarely, some peripheral neural cells in addition to immature neuroectodermal cells. These cells were more mature than those in the brain tissue.
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ranking = 1
keywords = physical examination, physical
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5/37. haloperidol overdose during pregnancy.

    BACKGROUND: suicide attempts during pregnancy are rare. Over-the-counter and psychotropic medications are most commonly used. Although intentional overdose of haloperidol has been reported in nonpregnant adults, it has not, to our knowledge, been reported previously during pregnancy. In this case of suicide attempt by haloperidol overdose, maternal and fetal responses were studied extensively. CASE: Intentional ingestion of 300 mg haloperidol by a pregnant woman at 34 weeks' gestation caused maternal unresponsiveness, an extrapyramidal reaction, temporary fetal akinesia, and a nonreactive nonstress test. The mother recovered in 48 hours. The fetus did not reach a biophysical profile score of ten until 5 days after presentation. CONCLUSION: haloperidol overdose during pregnancy causes a maternal extrapyramidal reaction, temporary fetal akinesia, and prolonged fetal neuromuscular depression.
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ranking = 0.1878514007138
keywords = physical
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6/37. Favorable outcome in a pregnancy with complete fetal heart block and severe bradycardia.

    BACKGROUND:Pregnancies complicated by congenital heart block usually have a poor prognosis when there is severe fetal bradycardia.CASE:We present a pregnancy with fetal heart rate of 40 beats per minute. She previously delivered a child with third-degree heart block by cesarean at 28 weeks. This pregnancy was complicated by a high ribonucleoprotein antibody anti-Ro/SSA titer and fetal bradycardia. The patient was treated with steroids and beta-mimetics. The fetus continued to grow normally with reassuring biophysical profiles. After fetal lung maturity documentation at 34 weeks, she delivered by repeat cesarean a healthy 2349-g infant who required a permanent pacemaker.CONCLUSION:Reassuring antepartum testing and normal growth in pregnant women with anti-Ro/SSA antibodies and congenital heart block may allow expectant management until fetal maturity.
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ranking = 0.1878514007138
keywords = physical
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7/37. prenatal diagnosis in a subset of trichothiodystrophy patients defective in dna repair.

    Trichothiodystrophy (TTD) is an autosomal recessive disorder characterized by brittle hair with reduced sulphur content, and mental and physical retardation. Numerous additional clinical features may be present, producing a very heterogeneous syndrome. Many cases exhibit ichthyosis and photosensitivity. cells from photosensitive TTD patients show reduced dna repair levels similar to those found in xeroderma pigmentosum. TTD patients have a short life expectancy, and no treatment is known or envisaged. We report the prenatal diagnosis of TTD in two French families, based on dna repair measurements in trophoblasts or amniotic cells, with later confirmation by microscopic analysis of the fetal hairs. Although the dna repair defect was less marked in the fetal cells when compared with fibroblasts from the index case, measurement of dna repair by unscheduled DNA synthesis provided unambiguous evidence of defective dna repair in the fetal cells. This method is therefore a suitable prenatal diagnostic test for those TTD families in which a dna repair defect has been identified.
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ranking = 0.1878514007138
keywords = physical
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8/37. Acute ethanol intoxication during pregnancy and consecutive fetal cardiac arrest: a case report.

    Chronic alcohol exposure during pregnancy and the resulting toxic effects for the fetus has been the subject of many investigations. In contrast, acute alcohol intoxication during pregnancy is a rare event and less is known about the consequences for fetal life. We report a case of the acute ethanol intoxication of a pregnant woman at the 35th week of gestation and the consecutive cardiac arrest of the neonate. Despite the life threatening event, the newborn recovered after resuscitation and intensive care treatment and could be discharged from hospital in good physical condition. We suggest that acute alcoholized pregnant women should be transferred to Perinatal Centers to cater for the possible need for emergency cesarean section and resuscitation of the newborn.
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ranking = 0.1878514007138
keywords = physical
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9/37. Congenital complete heart block: fetal management protocol, review of the literature, and report of the smallest successful pacemaker implantation.

    Fetuses with complete heart block have an increased mortality with most deaths occurring in utero or during infancy. The cardiac evaluation of these fetuses is difficult since the ventricular rate is low and the heart is dilated. We have implemented a strategy that includes the biophysical profile, which assesses fetal well-being, in combination with the cardiovascular profile that assesses cardiac function and the circulation. We present two cases of fetal complete heart block in which early delivery was recommended due to worsening cardiovascular profile scores. Biophysical profile scores were normal. Both babies were successfully treated, despite having risk factors that predicted poor outcomes. We hypothesize that our management protocol initiated intervention before fetal compromise, hydrops, and myocardial damage occurred. We recommend an evaluation of heart function in addition to an assessment of fetal well-being in fetuses with complete heart block. Early delivery should be considered if there is evidence of distress and/or deteriorating cardiac function.
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ranking = 0.3757028014276
keywords = physical
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10/37. Del(18p) syndrome with increased nuchal translucency in prenatal diagnosis.

    We report a de novo translocation between chromosome 15 and 18 resulting in monosomy 18p in prenatal diagnosis. The patient was referred for amniocentesis due to increased nuchal translucency (INT) (5 mm) at 13.6 weeks of gestation. karyotype of the fetus revealed 45,XX,der(15;18)(q10;q10) in all metaphases. The targeted fetal ultrasound at 20 weeks of gestation did not show any special physical abnormalities other than 6.4 mm of nuchal fold thickness. Molecular cytogenetic findings using CGH and FISH confirmed the del(18p) with dicentromeres from both chromosome 15 and 18. The present study shows that the INT at first trimester was the only prenatal finding for the fetus with del(18p) syndrome and that molecular cytogenetic methods are useful for detecting chromosomal aberrations precisely.
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ranking = 0.1878514007138
keywords = physical
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