β-Catenin Deletion in Regional Neural Progenitors Leads to Congenital Hydrocephalus in Mice / 神经科学通报·英文版

Congenital hydrocephalus is a major neurological disorder with high rates of morbidity and mortality; however, the underlying cellular and molecular mechanisms remain largely unknown. Reproducible animal models mirroring both embryonic and postnatal hydrocephalus are also limited. Here, we describe a new mouse model of congenital hydrocephalus through knockout of β-catenin in Nkx2.1-expressing regional neural progenitors. Progressive ventriculomegaly and an enlarged brain were consistently observed in knockout mice from embryonic day 12.5 through to adulthood. Transcriptome profiling revealed severe dysfunctions in progenitor maintenance in the ventricular zone and therefore in cilium biogenesis after β-catenin knockout. Histological analyses also revealed an aberrant neuronal layout in both the ventral and dorsal telencephalon in hydrocephalic mice at both embryonic and postnatal stages. Thus, knockout of β-catenin in regional neural progenitors leads to congenital hydrocephalus and provides a reproducible animal model for studying pathological changes and developing therapeutic interventions for this devastating disease.

Outcome Analysis of Ventriculoperitoneal Shunt in Terms of Complications In Patients of Congenital Hydrocephalus

Introduction: Ventriculo-peritoneal shunt is routinelyperformed in neurosurgery especially in PediatricNeurosurgery. This study is a retrospective study to analyzethe complications occurring in patients of congenitalhydrocephalous who got operated at our centre.Materials and Methods: This study was done by analyzing 90cases referred to Department of Neuro Surgery, SSG CivilHospital, Baroda Medical College, Baroda, Gujarat, India fromNovember 2017 to April 2019. A minimum follow-up of 6months was done. Hydrocephalus associated with Spaceoccupying lesions, Intracranial hemorrhages, Neural tubedefects were excluded.Results: Total number of cases operated during this periodwas 90. 59(65.6%) were male, 31 (34.4%) were female.Complications were observed in 30/90 (33.3%) cases. Out of30 cases shunt block 16 cases (53.4%) was a major cause ofcomplication followed by Infection i.e. 6 cases (20%). Therewas no mortality observed in our cases.Conclusion: This procedure has a high complication rate butnow due to again popular endoscopic third ventriculostomywhich can be safely used in certain cases above a set age, hasgiven us an option, but still in age group of 0-6 monthsventriculo-peritoneal shunt is still a more popular andprocedure of choice till any further alternative is available.

The impact of flat deformity of the cerebral cortex on motor functioning and cognition / 中华物理医学与康复杂志

Objective To investigate the impact flat deformity of the cerebral cortex induced by congenital hydrocephalus on motor functioning and cognition.Methods Tomography was used to confirm the presence of flat cortex deformity in three congenital hydrocephalus patients ranging in age from 20 to 33.Their motor control,balance,cognition and ability in the activities of daily living (ADL) were evaluated using the Fugl-Meyer assessment (FMA),the Berg balance scale (BBS),the mini-mental state examination (MMSE) and the modified Barthel index (MBI).Speech dysfunction was judged on the basis of clinical communication.The patients were scanned using a 64-slice spiral CT and size-of-ventricle indices were calculated.Results All 3 patients underwent ventrideperitoneal shunt.Their FMA scores were 75.5,83 and 100,with BBS scores of 4,24 and 56,MMSE scores of 14,23 and 26,and the MBIs of 40,90 and 100.CT images showed obvious ventricle enlargement and a thinner cortex layer in all three,with the thinnest part 0.18 cm,0.22 cm and 0.57 cm.Their ventricle indexes were 303％,288％ and 192％,respectively.Conclusion Although there is no systematic rehabilitation therapy for such patients,their motor,cognition and speech functioning were good,indicating the great potential for plasticity of the human brain.

A Case of congenital hydrocephalus associated with fetal intraventricular hemorrhage / 대한주산의학회잡지

Intraventricular hemorrhage is common in premature infants, and post-hemorrhagic hydrocephalus may follow. Rarely, intraventricular hemorrhage can occur in utero and may lead to congenital hydrocephalus. In most cases no underlying disease is identified. The fetus may be compromised by intrauterine hypoxia leading to hemorrhage. Fetal hydrocephalus can be identified by ultrasonography, but the hemorrhagic lesion can be identified with high sensitivity by magnetic resonance imaging. There are neurologic deficit in neonate with fetal hydrocephalus. Early surgical treatment is recommended for neurodevelopmental outcome. We experienced a case of congenital hydrocephalus associated with fetal intraventricular hemorrhage in our hospital. We report the case with a brief review of the literature.

Aqueductal Atresia with Forking Anomaly: Report of 3 cases

Aqueductal forking was first described by Russell (l949) as a cause of aqueductal obstruction and a form of congenital malformation with simple stenosis, it is a relatively common cause of congenital hydrocephalus not associated with spina bifida or meningomyelocele. Pathologically it is characterized by two distinct channels separated by non-gliotic brain tissue. We describe variable clinicopathologic findings of 3 autopsy cases showing hydrocephaly due to aqueductal atresia with forking case 1 was a 35-week-old female showing Potter's syndrome, dextrocardia, and skeletal anomaly. case 2 was a 29-week-old male abortus with micrognathia, simian crease, club feet, and minor defects of visceral organs. Case 3 was a 32-week-old female abortus with associated anomalies such as a low-set ear, ectopic thymus and thyroid, and Meckel's diverticulum. On serial sections of brain stems of all 3 cases, were seen variably shaped and atretic lumina of aqueducts with distinct two channe1s and intervening brain tissues of normal cellularity.

Congenital hydrocephalus-analysis of 49 cases

The causes of congenital hydrocephalus vary widely and have an important effect in determining the future counseling of affected cases. We analyzed the postmortem findings of 49 autopsies diagnosed as hydrocephalus to find the causes and related conditions. The cases were collected during the last 10 years (1981-1990). The cases consisted of 25 cases associated with various congenital malformations of the central nervous system (CNS), 14 cases of posthemorrhagic hydrocephalus, 4 cases of postinfection hydrocephalus, and 2 cases of hydranencephaly. Four cases were associated with supracerebellar arachnoid cyst (1) and unknown causes (3). Twenty-five cases associated with congenital malformation of the CNS consisted of 10 cases of holotelencephaly, 5 cases of stenosis of the Sylvian aqueduct, 4 cases of agenesis of the corpus callosum, and 3 cases each of Dandy-Walker malformation and Arnold-Chiari malformation. Various malformations of other organs were associated with these cases. Cardiovascular malformations were common, consisting of 11 cases of patent ductus arteriosus (PDA), 7 cases of atrial septal defect (ASD), and 6 cases of patent foramen ovale (PFO). Among the anomalies of the respiratory system, abnormal lobation was commonly associated, as well as hypoplasia of the lung. Gastrointestinal malformations included Meckel's diverticulum, diaphragmatic hernia, mobile intestine, and midline small liver. Cryptorchidism was the most common malformation in the genitourinary system. Holotelencephaly cases showed multiple craniofacial anomalies, as well as other malformations in the central nervous system. Skeletal malformations included polydactyly, simian crease, and flexion deformity. There were no specific constellations of malformations in these different groups of CNS malformations associated with hydrocephalus.