Search results for "halu"
showing 10 items of 206 documents
Thanatophoric dysplasia in monozygotic twins discordant for cloverleaf skull: Prenatal diagnosis, clinical and pathological findings
1992
We present male monozygotic twins with thanatophoric dysplasia (TD) type I concordant for long bone abnormalities and discordant for cloverleaf skull. The twins were the product of the second pregnancy of unrelated parents, with advanced paternal age. Prenatal diagnosis and postmortem examination showed severe rhizomelic shortness of limbs, bowing of the long bones with "telephone-receiver" femora in both twins, and cloverleaf skull and hydrocephalus in one of them. It is now accepted that most of cases of TD, such as in the present report, represent an autosomal dominant mutation with a high new mutations rate.
Endoscopic Procedures through the Foramen Interventriculare of Monro under Stereotactical Conditions
1994
The foramen interventriculare of Monro is an anatomical narrowness for the endoscopic access to the third ventricle. The effective mechanical angle to pass the foramen interventriculare from a frontal bore hole depends on the diameter in the plane of entrance, the depth of the foramen, and the diameter of the endoscope. Under the pathological conditions of a hydrocephalus internus the foramen interventriculare is enlarged. By means of stereotactical guidance, it is possible to reach the third ventricle accurately without damaging anatomical structures around the foramen interventriculare. The endoscopic technique under stereotactical guidance using a rigid endoscope is sufficient and safe t…
The Role of Third Ventriculostomy in the Management of Obstructive Hydrocephalus
2003
Objective: Endoscopic third ventriculostomy (ETV) is an effective treatment for occlusive hydrocephalus caused by an obstruction of the CSF flow in the aqueduct or the posterior fossa. We evaluated the factors age, pathology and surgical technique on the results of the ETV. Methods: Between November 1992 and October 2000 171 ETV have been performed in 159 patients. The follow-up was evaluated in 150 patients. The age ranged from 10 days to 77 years (mean age 35 years). The hydrocephalus was caused by benign aqueductal stenosis in 77 patients, space-occupying lesions in 59, by intraventricular hemorrhages in 11, and by other causes in 3 patients. The trajectory was planned in 31 patients by …
Frameless Neuronavigation Applied to Endoscopic Neurosurgery
2000
Objective: We retrospectively analyzed the indications, surgical techniques, and applicability of frameless neuronavigation to endoscopic procedures in a heterogeneous group of 15 patients. Material and Methods: In 8 patients indications for surgery were cystic lesions, in 3 patients intraventricular tumors, and in 4 patients occlusive hydrocephalus. The mean age was 39 years (range 9 - 76 years). The follow-up period ranged from 5 - 24 months (mean 10 months). Frameless neuronavigation was accomplished with the “operating arm system” in 10 cases and with the “optical tracking system” in 5 cases (RADIONICS, Burlington, USA). Results: In all 15 cases, neuronavigation sufficiently provided an…
PROSAIKA: A prospective multicenter registry with the first programmable gravitational device for hydrocephalus shunting
2015
Abstract Objective Cerebrospinal fluid (CSF) overdrainage is a major problem in shunt therapy for hydrocephalus. The adjustable gravitational valve proSA allows for the first time a targeted compensation for overdrainage in the upright position without interfering with the differential pressure valve. To evaluate benefit, safety and reliability, the multicenter prospective registry PROSAIKA was conducted in 10 German neurosurgical centers. Methods Between March 2009 and July 2010, 120 hydrocephalic patients undergoing first time shunt implantation or shunt revision using proSA entered the study. 93 patients completed the 12 months follow-up. Results Hydrocephalus symptoms were improved in 8…
Endoscopic aqueductoplasty through a tailored craniocervical approach.
2005
Object. Neuroendoscopy has an essential role in the management of occlusive hydrocephalus due to a membranous obstruction of the sylvian aqueduct. Well-known endoscopic methods include endoscopic third ventriculostomy (ETV) and endoscopic aqueductoplasty through a frontal burr hole. Building on their experience in the endoscopic management of hydrocephalus, the authors realized that not all of their patients with aqueductal obstruction were eligible for the aforementioned lines of treatment. Certain anatomical situations made it impossible to perform ETV or endoscopic aqueductoplasty through a frontal burr hole. Long-term complications of the shunt system led the authors to seek an alternat…
Dyke-Davidoff-Masson syndrome: case report of fetal unilateral ventriculomegaly and hypoplastic left middle cerebral artery
2013
Prenatal ultrasonographic detection of unilateral cerebral ventriculomegaly arises suspicion of pathological condition related to cerebrospinal fluid flow obstruction or cerebral parenchimal pathology. Dyke-Davidoff-Masson syndrome is a rare condition characterized by cerebral hemiatrophy, calvarial thickening, skull and facial asymmetry, contralateral hemiparesis, cognitive impairment and seizures. Congenital and acquired types are recognized and have been described, mainly in late childhood, adolescence and adult ages. We describe a female infant with prenatal diagnosis of unilateral left ventriculomegaly in which early brain MRI and contrast enhanced-MRI angiography, showed cerebral left…
A novel L1CAM mutation in a fetus detected by prenatal diagnosis
2010
X-linked hydrocephalus is due to mutations in the L1 neuronal cell adhesion molecule (L1CAM) gene. L1 protein plays a key role in neurite outgrowth, axonal guidance, and pathfinding during the development of the nervous system. We report on a familial case diagnosed by prenatal ultrasonographic examination, with cerebellar hypoplasia, agenesis of the corpus callosum, and the bilateral overlapping of the second and third fingers of the hand. Sequencing of the L1CAM gene showed a novel missense mutation in exon 14: transition of a guanine to cytosine at position 1777 (c.1777G > C), which led to an amino acid change of alanine to proline at position 593 (Ala593Pro) in the sixth immunoglobulin …
Inferior altitudinal hemianopia associated with a tumor in the posterior fossa: report of a case
1984
Altitudinal hemianopias may be related to chiasmatic involvement. A case in which horizontal inferior hemianopia is associated with a tumor in the posterior fossa producing a triventricular hydrocephalus is described. The visual field defect is interpreted as a consequence of the pressure by a dilated third ventricle upon the chiasmatic area.
Deteriorating Weather Conditions Predict the use of Suboptimal Stopover Sites by Aquatic WarblersAcrocephalus paludicola
2011
Abstract. The Aquatic Warbler Acrocephalus paludicola is a globally threatened songbird and its decline is related to habitat loss. Accordingly, most studies dealing with the stopover ecology of this species have been chiefly focused on the habitat use and the availability of suitable habitats along its route of migration. In contrast, much less attention has been paid to other environmental causes potentially explaining the use of stopover sites. Our aim here was to investigate whether the Aquatic Warbler at an apparently suboptimal stopover site with small area of suitable habitats stops over only during adverse weather conditions. We used data obtained at a suboptimal (Jaizubia marshland…