1/5. First-trimester features of Fowler syndrome (hydrocephaly-hydranencephaly proliferative vasculopathy).We describe the features of Fowler syndrome (proliferative vasculopathy and hydrocephaly-hydranencephaly) diagnosed in the first trimester. The pregnancy with no significant family history was referred for karyotyping and ultrasound examination after a cystic hygroma was seen at 12 weeks. At 13 weeks, ultrasound examination revealed hydrocephaly-hydranencephaly, fetal akinesia, and arthrogryposis associated with increased nuchal translucency. The parents opted for termination of pregnancy and the diagnosis of Fowler syndrome was confirmed by pathological examination of the fetus. Calcified necrotic lesions and proliferative vasculopathy were observed in the entire central nervous system including the brainstem and spinal cord. Cases previously reported in siblings suggest an autosomal recessive transmission but specific genetic antenatal diagnosis is not yet available. The diagnosis of proliferative vasculopathy and hydrocephaly-hydranencephaly (Fowler syndrome) should be considered whenever hydrocephaly-hydranencephaly associated with a fetal akinetic sequence are encountered at the end of the first trimester. genetic counseling is recommended.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
2/5. The use of two-dimensional Doppler sonography (color Doppler) in the diagnosis of hydranencephaly.hydranencephaly, first described by Cruveilhier, may be defined as a rare condition in which the cerebral hemispheres are replaced by membranous sacs filled with cerebrospinal fluid. cerebral angiography is especially useful in differentiating hydranencephaly and severe hydrocephalus, massive subdural hygromas and alobar holoprosencephaly, but it is no better than other neuroradiological diagnosis methods in the neonate. This report outlines the diagnostic use of two-dimensional Doppler (color Doppler) in a child with hydranencephaly. color Doppler was performed using an SSA-270A (Toshiba) with a 3.75 MHz phase-array sector scanning probe and no sedation. In this study, color Doppler demonstrated the internal carotid artery in the proximal portion, but the secondary and tertiary branches were not observed. In summary, color Doppler permitted early, easy diagnosis of hydranencephaly. In addition, the use of color Doppler was beneficial in diagnosing other anomalies of the central nervous system in neonates.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
3/5. Behavioral assessment of a hydranencephalic neonate.This study attempted to clarify the role of the cerebral cortex in neonatal behavior by administering the Neonatal Behavioral Assessment Scale-kansas revision to a hydranencephalic infant; particularly of interest were behaviors that are implicated in infant social responsiveness. The examination revealed extremely deviant responses on portions of the exam, including items that measure response decrement and orientation. However, this infant was observed to approximate normal neonatal responding on items relating to motor maturity and reactivity. Other findings included that some response decrement occurred in response to auditory and visual, but not tactile, stimulation. The discussion focuses on similarities and differences between this study and early research on both normal infants and infants with imperfectly formed nervous systems. Particular emphasis is placed on the response decrement results, as well as the utility of the NBAS-K in measuring infant behaviors in atypical infant samples.- - - - - - - - - - ranking = 0.26169956654443keywords = nervous system (Clic here for more details about this article) |
4/5. Proliferative vasculopathy and an hydranencephalic-hydrocephalic syndrome: a neuropathological study of two siblings.Two female siblings were born with an hydranencephalic-hydrocephalic syndrome, following pregnancies complicated by hydramnios. No environmental factors such as infections, drugs or metabolic disorders were noted during either pregnancy. Neuropathological studies revealed identical changes in each case. The characteristic feature of the pathology was a proliferative vasculopathy throughout the central nervous system, which apparently caused focal ischaemic lesions and progressive destruction of CNS tissue. The defect probably is inherited as an autosomal recessive trait.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
5/5. Suspected maternal infanticide in a case of hydranencephaly.A medico-legal autopsy case of hydranencephaly in a male infant which was first suspected of maternal infanticide is reported. The infant was 48 cm in height, weighed 2.86 kg and the circumference of the head, the chest and the abdomen was 32.2 cm, 31.0 cm and 30.4 cm, respectively, with no deformities of the head or body. autopsy examination, however, revealed a severe defect in the central nervous system. The cranial cavity was filled with a cloudy dark red fluid (ca. 310 ml) instead of the cerebral hemispheres. The residual central nervous tissues were mostly subtentorial structures from the midbrain to the spinal cord namely, corpus mamillare, corpora quadrigemina, corpus pineale, crus cerebri, pons, cerebellum, medulla oblongata and spinal cord. The basal ganglia, thalamus, hypothalamus and chiasma opticum could not be found, although atrophic hypophysis, eyeballs and optic nerves were present. The usual distribution of cerebral blood vessels, especially the branches of the anterior and middle cerebral arteries and Willis' ring, was absent despite the presence of the internal and external carotid arteries. Other organs were, in general, congestive. The marked cortical atrophy of the adrenal glands (left 0.5 g, right 0.6 g), especially the zona fasciculata, was characteristic. The hydrostatic lung test gave partially positive results, but this was considered to be due to artificial respiration by an ambulance man because amniotic fluid components were microscopically noted and fully expanded alveoli were not found. In conclusion, the cause of the infant's death was diagnosed as stillbirth due to aspiration of amniotic fluid caused by the severe defect of vegetative hypothalamic function through hydranencephaly.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |