1/28. Prolonged survival with hydranencephaly: report of two patients and literature review.Infants with hydranencephaly are presumed to have a reduced life expectancy, with a survival of several weeks to months. Rarely, patients with prolonged survival have been reported, but these infants may have had other neurologic conditions that mimicked hydranencephaly, such as massive hydrocephalus or holoprosencephaly. We report two infants with prenatally acquired hydranencephaly who survived for 66 and 24 months. We reviewed published reports to ascertain the clinical and laboratory features associated with survival of more than 6 months. This review demonstrates that prolonged survival up to 19 years can occur with hydranencephaly, even without rostral brain regions, with isoelectric electroencephalograms, and with absent-evoked potentials. Finally, the ethical aspects of these findings, as they relate to anencephaly and organ transplantation, are discussed.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
2/28. Hemihydranencephaly: case report and literature review.hydranencephaly is a severe brain condition characterized by complete or almost complete absence of cerebral cortex with preservation of meninges, basal ganglia, pons, medulla, cerebellum, and falx. It has been ascribed to different causes (infections, irradiations, fetal anoxia, medications, twin-twin transfusion), all leading to vascular disruption. Hemihydranencephaly is an extremely rare condition in which the vascular anomaly is unilateral. We report on a patient who was suspected to have hydrocephalus in utero; a brain magnetic resonance imaging scan showed left-sided hydranencephaly with preservation of basal ganglia. The patient developed signs of right hemiparesis but notably has only mild language delay. The available literature on hemihydranencephaly is reviewed.- - - - - - - - - - ranking = 2keywords = brain (Clic here for more details about this article) |
3/28. Congenital hydranencephalic-hydrocephalic syndrome with proliferative vasculopathy: a possible relation with mitochondrial dysfunction.We report the case of a fetus aborted at gestation week 20 because of hydranencephalic-hydrocephalic syndrome. The fetus was the third pregnancy of a nonconsanguineous couple whose first child exhibited congenital hydranencephalic-hydrocephalic syndrome associated with muscle histology findings consistent with mitochondrial cytopathy and deficiency of complexes III and IV of the respiratory chain and whose second pregnancy had terminated in an elective abortion on detection of progressive hydrocephalus at gestation week 19. The third pregnancy had a normal course according to obstetric and ultrasonography examinations performed at gestation weeks 5, 10, and 15, and negative results were obtained in standard serologic and polymerase chain reaction (PCR) tests for prenatal infections of the mother. However, the ultrasonography examination at gestation week 18 revealed hydrocephalus, in response to which the parents requested an abortion, which was performed at gestation week 20; the fetus was male and with no evident external malformations. Histopathologic studies of the brain and medulla oblongata revealed proliferative vasculopathy (glomeruloid vessels, intracytoplasmic inclusions, and microcalcifications) and intracytoplasmic inclusions in the voluntary muscle. Microbiologic and PCR tests of hepatic and spleen tissue were negative for prenatal infections. In view of the precedent of a sister with mitochondrial dysfunction, these findings raise the pos sibility that at least some cases of familial syndrome of congenital hydranencephalic-hydrocephalic syndrome with proliferative vasculopathy can be attributed to alterations in the mitochondrial respiratory chain.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
4/28. hydranencephaly in an infant with vascular malformations.hydranencephaly is a condition in which cerebral hemispheres are absent and reduced to fluid-filled sacs in a normal skull. Numerous causes have been proposed. We report a male infant with hydranencephaly and congenital vascular malformations (port wine stains, generalized nevus flammeus, anomalous retinal vessels, and absent internal carotid flow). magnetic resonance imaging of the brain showed absence of most of the cerebrum except for small portions of the occipital cortex and thalami. magnetic resonance angiography showed flow within the vertebral and basilar arteries without internal carotid intracranial flow above the internal carotid petrous and cavernous portion. This is a report of cutaneous and retinal malformations associated with hydranencephaly. vascular malformations of larger vessels (e.g., webbing of the carotid arteries and an absent internal carotid arterial system) have been observed in other infants with hydranencephaly, and are proposed to lead to brain destruction. The case reported herein supports the role of primary vascular malformations in the development of some cases of hydranencephaly.- - - - - - - - - - ranking = 2keywords = brain (Clic here for more details about this article) |
5/28. Auditory behaviors and auditory brainstem responses of infants with hypogenesis of cerebral hemispheres.Three infants with an almost complete absence of the cerebral hemispheres as a result of brain anomalies were studied both audiologically and neurologically. The brain anomalies were diagnosed by means of MRI and CT scans. Behavioral audiometry revealed reactions only to loud sound stimulations but auditory brainstem responses showed wave configurations and thresholds compatible with the ages of the infants. There were significant differences in the thresholds obtained by behavioral audiometry and auditory brainstem responses. It can be considered that these auditorily stimulated behavioral responses are evoked by auditory motor reflexes originating in the brainstem, but not by auditory perception.- - - - - - - - - - ranking = 9keywords = brain (Clic here for more details about this article) |
6/28. 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 = 1.5281765413415keywords = brain, central nervous system, nervous system (Clic here for more details about this article) |
7/28. Web-like malformation of the carotid artery and multicystic encephalomalacia.Multicystic encephalomalacia and hydranencephaly lie within a spectrum of brain lesions linked to ischemic cerebral damage. Causes include vascular malformation, thrombosis, embolism, infection, and toxins. We describe an infant with multicystic encephalomalacia associated with a peculiar web-like malformation of the right common carotid and left subclavian arteries. We postulate that this luminal bridging is a congenital malformation resulting from defective canalization of the medium-sized blood vessels but could represent organized and recanalized thrombi, the etiology of which remains unknown.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
8/28. Electrophysiological study on hydranencephaly.An electrophysiological study was performed on 2 children with hydranencephaly diagnosed by CT and/or MRI. Case 1 was a 4-month-old boy who had no rostral tissues above the midbrain. Case 2 was a 5-year-old boy in whom CT showed retention of the thalamus. Short latency somatosensory evoked potentials (SSEP) in both cases exhibited the absence of cortical activity (N1 and P4) with the preservation of waves of brain stem origin. However, in case 1, wave component No was not observed, while No was seen in case 2. It was postulated, thus, that the No component of SSEP on median nerve stimulation in children, which corresponds to N16 in adults, may originate in the thalamus.- - - - - - - - - - ranking = 2keywords = brain (Clic here for more details about this article) |
9/28. Ultrasound and MRI appearance and evolution of hydranencephaly in utero: a case report.BACKGROUND: hydranencephaly is the total or near-total destruction of the cerebral cortex and basal ganglia. The thalami and lower brain centers are typically preserved. This condition is usually preceded by occlusion of the internal carotid arteries, resulting in massive brain infarction. CASE: An 18-year-old woman, gravida 1, presented with a 1-day history of heavy vaginal bleeding at 23 weeks' gestation. Initial ultrasound revealed oligohydramnios and retroplacental lucency consistent with placental abruption. A follow-up level II ultrasound revealed abnormal intracerebral architecture. Subsequent ultrasounds and magnetic resonance imaging (MRI) revealed an evolving case of hydranencephaly. Postdelivery computed tomography verified the prenatal findings. CONCLUSION: Ultrasound and MRI are useful radiologic studies to confirm the diagnosis of hydranencephaly.- - - - - - - - - - ranking = 2keywords = brain (Clic here for more details about this article) |
10/28. electroencephalography, Doppler vascular scanning, and single photon emission computed tomography in a child with hydranencephaly and intractable seizures.In a child with hydranencephaly and refractory seizures, the electroencephalogram showed a flat isoelectric pattern with no significant slow waves or epileptiform activity; cranial computed tomography, magnetic resonance imaging, Doppler vascular scanning, and single photon emission computed tomography (SPECT) were done to define the pathogenesis of the seizures. The investigations were suggestive of a lack of significant cortical, subcortical, or thalamic structures with hypoplasia of the vermis and cerebellum. SPECT showed little activity in the base of the brain and cerebellum. The cause of the seizures remained unclear in spite of the investigations.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
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