1/77. Fetal seizures causing increased heart rate variability during terminal fetal hypoxia.Fetal seizures together with both abnormal breathing movements and fluctuations in fetal blood pressure and heart rate resulting in increased fetal heart rate variability have been observed in brain-damaged fetal sheep shortly after an asphyxial insult. We report a clinical example of convulsions and increased heart rate variability during terminal fetal hypoxia.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
2/77. Fetal brain infection with human parvovirus B19.Intrauterine parvovirus B19 infection is known to be one of the causes of hydrops fetalis. However, there are few reports of the pathologic changes in the central nervous system. Postmortem examination of a fetus revealed multinucleated giant cells of macrophage/microglia lineage and many small calcifications around the vessels, predominantly in the cerebral white matter. parvovirus B19 genome dna was detected in the nucleus of the multinucleated giant cells and solitary endothelial cells by polymerase chain reaction amplification and in situ polymerase chain reaction methods. capsid antigen was also demonstrated in the cytoplasm of the endothelial cells by immunofluorescent assay. Thus, intrauterine B19 parvovirus infection could be associated with marked neuropathologic changes in the fetal brain at the midembryonal period. Neurologic follow-up of complications may be necessary for children who survive the intrauterine infection.- - - - - - - - - - ranking = 5.4009830153647keywords = brain, nervous system (Clic here for more details about this article) |
3/77. Anomalous ependyma inducing split cord and meningomyelocele?The case is that of a female fetus of 17 to 18 weeks' gestation with major defects of the central nervous system: (1) The thoracic vertebrae demonstrated rachischisis, with segmental diplomyelia; the duplicated cords were dissimilar in size and lay side by side within a single meningeal sheath lacking a dividing septum or spur. Cranially to the divided cord lay an unsplit segment of "open cord" lacking the posterior elements and exposing the centrally placed ependyma of the central canal flanked by glial and epidermal lining, respectively; it could be regarded as an example of a meningomyelocele. (2) Heterotopic massed ependymal cells, some of which were actively proliferating, were associated with the choroid plexus in the brain. Minor anomalies included cerebellar heterotopia and the malpositioning of dorsal root ganglia outside the meningeal sheath. Because the ependyma is such a powerful inducer of the development of neighboring tissue, the findings could be united by a common pathogenic theme, viz problematic ependymal development and migration within both the brain and spinal cord. The causative agent responsible for these abnormalities remains unidentified, but the balance of evidence suggests that its effect was felt during the second week of postconceptual age.- - - - - - - - - - ranking = 3.7513572587338keywords = central nervous system, brain, nervous system (Clic here for more details about this article) |
4/77. central nervous system in twin reversed arterial perfusion sequence with special reference to examination of the brain in acardius anceps.The twin-reversed arterial perfusion (TRAP) sequence, or acardia, is the most severe complication in monozygotic twinning. Although more than 400 cases with TRAP sequence were reported since 1533, thorough investigations of the brain in those cases with a rudimentary head remained infrequent. We report a TRAP sequence with microcephaly and a severely rudimentary brain anlage. Neuropathologic examination clearly demonstrated two types of change: (1) developmental arrest of brain at the prosencephalic stage (holoprosencephaly), and (2) hypoxic damage to the holospheric brain mantle with cystic change (hydranencephaly). With reference to previous studies in experimental animals showing that lack of oxygen during early embryogenesis can induce severe disruptions of head-brain and heart formation, it is concluded that oxygen deficiency due to TRAP may be responsible not only for the encephaloclastic changes in the acardius anceps, but for the developmental arrest of the brain cases as well. This would make it unnecessary to postulate additional primary causes such as asymmetric zygote cleavage (Schwalbe, '07) for the maldevelopment.- - - - - - - - - - ranking = 11.603932061459keywords = brain, nervous system (Clic here for more details about this article) |
5/77. Prenatal confirmation of periventricular leukomalacia in a surviving monochorionic-diamniotic twin after death of the other fetus: a case report.A 30-year-old woman was found to be carrying monochorionic-diamniotic twins at 7 weeks of gestation. The growth-retarded fetus died at 21 weeks of gestation. At 28 weeks of gestation, periventricular leukomalacia was detected in the brain of the surviving fetus by transvaginal ultrasonography. A female baby presenting with microcephaly was born at 39 weeks of gestation, and CT of the brain showed microcephaly and marked hydrocephalus. At 12 months of age, the surviving infant presented with severe physical growth retardation, and frequent episodes of clonic convulsions.- - - - - - - - - - ranking = 2keywords = brain (Clic here for more details about this article) |
6/77. Macerated fetus in utero relating to intracranial angioma: report of 2 cases.Two macerated fetuses in utero are presented. The mothers experienced no abnormalities during pregnancy. Both fetuses were found postmortem to have intracranial angiomas. In case 1, the angioma in the choroid plexus of the right lateral ventricle was associated with intraventricular and subarchnoid hemorrhages. There was additional angiomatosis in the leptomeninges and substance of the brain. In case 2, there was leptomeningeal angiomatosis with diffuse subarchnoid hemorrhage. It is suggested that spontaneous rupture of the angioma of the choroid plexus in case 1 and of the leptomeninges in case 2 resulted in immediate death of the fetuses with subsequent maceration in utero. Asymptomatic angioma of the fourth ventricular choroid plexus is also described in case 2 because of its extreme rarity.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
7/77. Sonography and neuropathology of a congenital brain tumor: report of a rare incident.A rare case of a congenital brain tumor was diagnosed by sonography in a fetus at 33 weeks' gestation. The ultrasound examination showed a large area of both increased echogenicity and echolucency in one hemisphere suggestive of brain tumor or hemorrhage. The neuropathological examination revealed an undifferentiated glial tumor with large areas of necrosis.- - - - - - - - - - ranking = 6keywords = brain (Clic here for more details about this article) |
8/77. A 46,XX fetus with external female and internal male genitalia, facial dysmorphic features and mildly dilated lateral ventricles of the brain: a new syndrome?The clinical features of a 46,XX fetus with dysmorphic facial features, mild dilatation of the lateral ventricles of the brain, and female external and male internal genitalia are described. This combination of abnormalities does not appear to have been reported previously, and may represent a new syndrome.- - - - - - - - - - ranking = 5keywords = brain (Clic here for more details about this article) |
9/77. Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review.Ritscher-Schinzel syndrome, also known as the 3C syndrome, is a rare, autosomal recessive syndrome characterized by craniofacial, cerebellar, and cardiac anomalies. Cardiac manifestations include ventricular septal defect, atrial septal defect, tetralogy of fallot, double outlet right ventricle, hypoplastic left heart, aortic stenosis, pulmonic stenosis and other valvular anomalies. central nervous system anomalies include Dandy-Walker malformation, cerebellar vermis hypoplasia and enlargement of the cisterna magna. craniofacial abnormalities seen are cleft palate, ocular coloboma, prominent occiput, low-set ears, hypertelorism, down-slanting palpebral fissures, depressed nasal bridge and micrognathia. Dandy-Walker malformation, posterior fossa cyst, hydrocephalus and congenital heart defect are common malformations that may occur in isolation or as a part of many syndromes. Accurate genetic diagnosis and counseling require detailed analysis of the external as well as the internal anatomy and knowledge of the relative frequencies of various malformations in syndromes that may have overlapping clinical signs. We have had the opportunity recently to study four cases of the Ritscher-Schinzel syndrome. A review of all reported cases is presented and an attempt made to define the minimum diagnostic criteria for the Ritscher-Schinzel syndrome. Of the nine craniofacial anomalies commonly reported as a part of the Ritscher-Schinzel syndrome, we consider two i.e., cleft palate and ocular coloboma, to be readily and objectively ascertainable. The other seven craniofacial traits, however, are somewhat subjective, require expert interpretation and are sometimes difficult to ascertain in a newborn or stillborn fetus. These are prominent forehead, prominent occiput, hypertelorism, down-slanting palpebral fissures, low-set ears, depressed nasal bridge and micrognathia. At least four of these were present in all cases that had a secure diagnosis of the Ritscher-Schinzel syndrome. Thus, the criteria we propose to establish the diagnosis of the Ritscher-Schinzel syndrome in a chromosomally normal sporadic case are the presence of cardiac malformation other than isolated patent ductus arteriosus, cerebellar malformation, and cleft palate or ocular coloboma or four of the following seven findings: prominent forehead, prominent occiput, hypertelorism, down-slanting palpebral fissures, low-set ears, depressed nasal bridge, and micrognathia.- - - - - - - - - - ranking = 0.40098301536469keywords = nervous system (Clic here for more details about this article) |
10/77. Ring chromosome 6 in three fetuses: case reports, literature review, and implications for prenatal diagnosis.Prenatal and postnatal findings in three fetuses with a ring chromosome 6 are presented, and the literature of this rare cytogenetic disorder is reviewed. The described fetuses illustrate the broad spectrum of the clinical manifestation of ring chromosome 6. In one fetus, the disorder was diagnosed incidentally by a routine amniocentesis due to advanced maternal age. The other two fetuses were hydrocephalic and had other congenital anomalies. Remarkably, the ring chromosome 6 tends to disappear in cultured amniotic fluid cells; karyotyping revealed complete or nearly complete monosomy 6. In contrast, the ring was preserved in high proportions of fetal leukocytes. Postnatal growth retardation is the only consistent finding of this chromosomal disorder. maternal age is not significantly above average. An additional review of 20 literature cases revealed a striking tendency to hydrocephalus, either due to deficient brain growth or secondary to an aqueductal stenosis. Children with hydrocephalus and ring chromosme 6 tend to display facial dysmorphism and may have additional malformations, growth failure, eye anomalies, and seizures. In contrast, there are two reports on children with a ring chromosome 6 who had short stature, normal appearance, and a normal or almost-normal psychomotor development. In such patients at the mild end of the clinical spectrum, the phenotype is basically restricted to what Kosztolanyi. [1987: Hum Genet 75:174-179] delineated as "ring syndrome," comprising "severe growth failure without major malformations, without a specific deletion syndrome, with only a few or no minor anomalies, and mild to moderate mental retardation." This "ring syndrome" is considered to occur independently of the autosome involved in the ring formation. The overall impression from our cases and from the literature review of cases with ring chromosome 6 is that the karyotype-genotype correlation is poor. This makes prognostic counseling of parents difficult and unsatisfactory. Serial targeted ultrasound examinations, especially of the brain, are decisive factors in elucidating the prognosis.- - - - - - - - - - ranking = 2keywords = brain (Clic here for more details about this article) |
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