11/81. 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.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
12/81. Isolated lissencephaly sequence with contiguous gene deletion detected by FISH analysis: a case report.BACKGROUND: lissencephaly is a clinically and genetically heterogeneous malformation of the brain, usually leading to a severe disabling condition and seizures. The recent discovery of molecular techniques and identification of lissencephaly genes (e.g. LISI and DCX) has allowed etiologic diagnosis of this disorder feasible. OBJECTIVE: To describe a patient with lissencephaly in whom fluorescence in situ hybridization (FISH) determined etiologic diagnosis, providing precise genetic counseling and possible prenatal diagnosis for the family. CLINICAL REPORT AND STUDY RESULTS: The authors report a 4 month-old girl who presented with intractable, generalized myoclonic seizures at I month of age. The patient was born at 37 weeks' gestation, to a G4P1A2 36-year-old woman. Chromosome analysis from amniotic fluid performed for advanced maternal age revealed normal karyotype. pregnancy was complicated by polyhydramnios. Computed tomographic scan of the brain at age one month showed a total absence of gyral formation. FISH of the metaphase chromosome from the patient, using Smith-Magenis and Miller-Dieker/ILS probe showed two signals of Smith-Magenis probe but only one signal of Miller-Dieker/ILS probe, indicating a microdeletion of 17pl3.3 region including LIS1 gene. Hybridization of the ILS probe on the metaphase chromosome of both parents was normal. CONCLUSION: A confirmation of contiguous gene deletion in this patient lead to an etiologic diagnosis of lissencephaly. This information allowed precise genetic counseling, estimation of recurrent risk, and definite prenatal diagnosis available to the family. The authors suggest FISH 17p13.3 studies be performed in addition to a standard metaphase analysis in all patients with type I lissencephaly.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
13/81. Fetal and neonatal neurologic case histories: assessment of brain disorders in the context of fetal-maternal-placental disease. Part 1: Fetal neurologic consultations in the context of antepartum events and prenatal brain development.The pediatric neurologist can contribute to a fetal diagnostic service that includes the maternal-fetal specialist as well as placental and pediatric pathologists, neonatologists, neurosurgeons, geneticists, and other pediatric subspecialists. Selected case histories of patients who presented to our fetal neurology service illustrate the wide spectrum of disease entities that are highly dependent on the time during gestation, location of brain injury, and the direct as well as indirect effects of fetal/maternal/placental disease processes on brain maturation. The pediatric neurologist has the opportunity to provide an important consultative role, bridging prenatal to neonatal life and integrating medical and ethical concerns for the child in the context of the family.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
14/81. hydrops fetalis associated with ureaplasma urealyticum.A hydroptic newborn was born at 32 weeks' gestation and at the age of 14 h died of post-asphyxial syndrome. Immunologic causes of hydrops fetalis were excluded, as were anomalies and chromosomal aberrations. ureaplasma urealyticum was isolated in bronchial secretions, lung tissue and brain tissue of the newborn. Our findings suggest that U. urealyticum infection should be considered in the differential diagnosis of hydrops fetalis.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
15/81. The significance of choroid plexus cysts in fetuses at 18-20 weeks. An indication for amniocentesis?Over a period of 25 months, all antenatal patients were offered a detailed ultrasound scan at 18-20 weeks' gestation. The lateral cerebral ventricles were scanned for the presence of choroid plexus cysts. Fifty-one patients found to have choroid plexus cysts were offered amniocentesis to exclude chromosomal abnormalities. One pregnancy, in which the only abnormality found was bilateral choroid plexus cysts, was terminated after trisomy 18 was detected on amniocentesis at 19 weeks. The other 50 pregnancies had normal fetal outcomes. The significance of the isolated finding of choroid plexus cysts is reviewed.- - - - - - - - - - ranking = 1.1463636491427keywords = gestation, pregnancy (Clic here for more details about this article) |
16/81. The clinical diagnosis of asphyxia responsible for brain damage in the human fetus.OBJECTIVE: Our objective was to review the clinical findings in infants who died in the perinatal period with brain damage attributable to asphyxia. STUDY DESIGN: The neuropathologic findings in 208 perinatal deaths have been reviewed. Thirty cases (22 fetal, eight newborn) had evidence of white matter or neuronal necrosis due to asphyxia. The clinical course of the pregnancy in 22 cases with brain damage attributable to fetal asphyxia were examined. RESULTS: The diagnosis of asphyxia was confounded by several factors: (1) asphyxia may occur at any time in the last half of pregnancy, (2) 50% of the antepartum asphyxia occurred when the pregnancy had no risk factors, (3) periodic fetal assessment in the complicated preterm pregnancies failed to identify the asphyxial episodes in the remaining cases of antepartum asphyxia, and (4) indicators of fetal asphyxia in the cases of intrapartum fetal asphyxia were obtained after the central nervous system injury had occurred. CONCLUSION: These findings highlight the difficulty in the diagnosis of fetal asphyxia at a stage that could permit intervention to prevent brain damage.- - - - - - - - - - ranking = 0.439090947428keywords = pregnancy (Clic here for more details about this article) |
17/81. Intrauterine west nile virus: ocular and systemic findings.PURPOSE: To report the first documented case of intrauterine transmission of west nile virus (WNV) with resulting congenital chorioretinal scarring and central nervous system malformation in a newborn. DESIGN: Case report. methods: Ophthalmic findings and laboratory data in an otherwise presumed healthy 2-day-old female are presented. The infant's mother developed paraplegia due to WNV during the second trimester of her pregnancy. The newborn's external and general physical examination were unremarkable. RESULTS: Ophthalmic examination disclosed marked chorioretinal changes, and magnetic resonance imaging of the brain demonstrated severe abnormalities. serology for WNV was positive. Other causes of congenital chorioretinal changes were ruled out with the appropriate serology. CONCLUSIONS: Intrauterine transmission of WNV may result in significant ocular and neurologic morbidity. Titers for this important and emerging viral pathogen should be obtained when standard serologies are negative in an infant with congenital chorioretinal scarring.- - - - - - - - - - ranking = 0.14636364914267keywords = pregnancy (Clic here for more details about this article) |
18/81. Postpartum angiopathy with reversible posterior leukoencephalopathy.BACKGROUND: Postpartum angiopathy (PPA) is a cerebral vasoconstriction syndrome of uncertain cause that affects large and medium-sized cerebral arteries. Postpartum angiopathy is frequently complicated by ischemic stroke. The reversible posterior leukoencephalopathy syndrome (RPLS) is a distinct clinical-radiological entity characterized by transient vasogenic edema on brain imaging. The pathophysiological features of RPLS are related to small-vessel dysfunction and breakdown of the blood-brain barrier. OBJECTIVES: To report the coexistence of PPA and RPLS in 4 patients and to discuss possible interrelationships between these 2 entities. DESIGN: Four case reports and a review of the literature. RESULTS: Four women developed a clinical-radiological syndrome overlapping PPA and eclampsia shortly after an uncomplicated pregnancy. All had acute severe ("thunderclap") headaches and hypertension. Three developed seizures. All patients had reversible angiographic narrowing of large and medium-sized cerebral arteries. Serial magnetic resonance imaging showed transient nonischemic brain lesions, resembling the lesions described in patients with RPLS. The results of extensive tests for cerebral vasculitis were negative. CONCLUSION: These cases, and the literature, suggest an interrelationship between RPLS and cerebral vasoconstriction syndromes such as PPA.- - - - - - - - - - ranking = 0.14636364914267keywords = pregnancy (Clic here for more details about this article) |
19/81. Hereditary fetal brain degeneration resembling fetal brain disruption sequence in two sibships.We present two families with sib recurrence of a phenotype which was originally diagnosed as fetal brain disruption sequence (FBDS). In the first family from the Hindu population of Surinam, two brothers were affected. In the second family of Dutch descent a brother and sister were affected. Periodic ultrasonic sound examinations of brain development of the girl in the second family appeared normal until 26 weeks of gestation after which progressive destruction of her brain was seen. recurrence of the FBDS in a family is noteworthy as it is usually considered a sporadic disorder. Suggested causes in the literature are viral infections or early vascular interruption of the fetal brain with subsequent massive destruction of cerebral neurons. In 1995 the first familial case of FBDS was described, indicating a genetic cause. Recently Kavaslar et al. [2000: Am J Hum Genet 66:1705-1709.] found a locus on chromosome 16 in a large inbred Anatolian family with a phenotype resembling FBDS. Our experience and the literature show that the cause of the phenotype "FBDS" is heterogeneous. In case of sib recurrence the term FBDS should be avoided since a disruption sequence indicates an exogenous and sporadic cause of the disorder.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
20/81. Bilateral choroid plexus cysts in trisomy 21.Whether karyotyping is indicated in a fetus with choroid plexus cysts who is otherwise structurally normal is still controversial. Many authors have suggested basing the decision on cyst size, bilaterality, persistence with advancing gestational age, and association with other anomalies. We report a case of large bilateral choroid plexus cysts in a fetus with trisomy 21 who had no evidence of congenital anomalies or ultrasonographic signs of down syndrome. Cyst sizes diminished by half over a 3-week period of follow-up. It appears that diminishing size alone should not be considered sufficient reassurance about the normality of the fetal karyotype. A similar case has been previously reported, and it is conceivable that choroid plexus cysts are associated not only with trisomy 18 but also with trisomy 21.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
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