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European Journal of Medical Research Sep 2022Hydrocephalus is a serious condition that affects patients of all ages, resulting from a multitude of causes. While the etiologies of hydrocephalus are numerous, many of... (Review)
Review
Hydrocephalus is a serious condition that affects patients of all ages, resulting from a multitude of causes. While the etiologies of hydrocephalus are numerous, many of the acute and chronic symptoms of the condition are shared. These symptoms include disorientation and pain (headaches), cognitive and developmental changes, vision and sleep disturbances, and gait abnormalities. This collective group of symptoms combined with the effectiveness of CSF diversion as a surgical intervention for many types of the condition suggest that the various etiologies may share common cellular and molecular dysfunctions. The incidence rate of pediatric hydrocephalus is approximately 0.1-0.6% of live births, making it as common as Down syndrome in infants. Diagnosis and treatment of various forms of adult hydrocephalus remain understudied and underreported. Surgical interventions to treat hydrocephalus, though lifesaving, have a high incidence of failure. Previously tested pharmacotherapies for the treatment of hydrocephalus have resulted in net zero or negative outcomes for patients potentially due to the lack of understanding of the cellular and molecular mechanisms that contribute to the development of hydrocephalus. Very few well-validated drug targets have been proposed for therapy; most of these have been within the last 5 years. Within the last 50 years, there have been only incremental improvements in surgical treatments for hydrocephalus, and there has been little progress made towards prevention or cure. This demonstrates the need to develop nonsurgical interventions for the treatment of hydrocephalus regardless of etiology. The development of new treatment paradigms relies heavily on investment in researching the common molecular mechanisms that contribute to all of the forms of hydrocephalus, and requires the concerted support of patient advocacy organizations, government- and private-funded research, biotechnology and pharmaceutical companies, the medical device industry, and the vast network of healthcare professionals.
Topics: Adult; Child; Humans; Hydrocephalus; Incidence; Infant
PubMed: 36050779
DOI: 10.1186/s40001-022-00798-6 -
Prenatal Diagnosis Dec 2022Fetal cerebral ventriculomegaly is a relatively common finding, observed during approximately 1% of obstetric ultrasounds. In the second and third trimester, mild... (Review)
Review
Fetal cerebral ventriculomegaly is a relatively common finding, observed during approximately 1% of obstetric ultrasounds. In the second and third trimester, mild (≥10 mm) and severe ventriculomegaly (≥15 mm) are defined according to the measurement of distal lateral ventricles that is included in the routine sonographic examination of central nervous system. A detailed neurosonography and anatomy ultrasound should be performed to detect other associated anomalies in the central nervous system and in other systems, respectively. Fetal MRI might be useful when neurosonography is unavailable or suboptimal. The risk of chromosomal and non-chromosomal genetic disorders associated with ventriculomegaly is high, therefore invasive genetic testing, including microarray, is recommended. Screening for prenatal infections, in particular cytomegalovirus and toxoplasmosis, should also be carried out at diagnosis. The prognosis is determined by the severity of ventriculomegaly and/or by the presence of co-existing abnormalities. Fetal ventriculoamniotic shunting in progressive isolated severe ventriculomegaly is an experimental procedure. After delivery, ventricular-peritoneal shunting or ventriculostomy are the two available options to treat hydrocephalus in specific conditions with similar long-term outcomes. A multidisciplinary fetal neurology team, including perinatologists, geneticists, pediatric neurologists, neuroradiologists and neurosurgeons, can provide parents with the most thorough prenatal counseling. This review outlines the latest evidence on diagnosis and management of pregnancies complicated by fetal cerebral ventriculomegaly.
Topics: Pregnancy; Child; Female; Humans; Prospective Studies; Hydrocephalus; Ultrasonography, Prenatal; Nervous System Malformations; Parents; Cerebral Ventricles; Prenatal Diagnosis
PubMed: 36371614
DOI: 10.1002/pd.6266 -
Neurology India 2021Hydrocephalus is the most important co-morbidity in myelomeningocele from a neurosurgical perspective. Historically, 75-80% of patients with myelomeningocele have... (Review)
Review
Hydrocephalus is the most important co-morbidity in myelomeningocele from a neurosurgical perspective. Historically, 75-80% of patients with myelomeningocele have required treatment with a shunt but recent advances including intra-uterine myelomeningocele closure and ETV-CPC are reducing this burden. The expression of hydrocephalus differs between patients and across the life span. Hydrocephalus impacts the clinical expression of other important co-morbidities including the Chiari II malformation and tethered spinal cord. Shunt failure is often the key stress to prompt symptomatic worsening of these other conditions. Shunt failure may occur with minimal ventricular change on CT or MRI in Spina Bifida patients. Waiting for radiographic changes in symptomatic SB patients with shunts may result in hydrocephalus related fatalities. It is hypothesized but not proven that shunt failure may contribute to respiratory insufficiency and be a risk factor for sudden death in adult patients with spina bifida. Excellence in hydrocephalus management in MMC is essential for proper care, good outcomes, and quality of life for patients and families.
Topics: Adult; Arnold-Chiari Malformation; Humans; Hydrocephalus; Meningomyelocele; Quality of Life; Spinal Dysraphism
PubMed: 35102990
DOI: 10.4103/0028-3886.332247 -
RoFo : Fortschritte Auf Dem Gebiete Der... Aug 2017Hydrocephalus is caused by an imbalance of production and absorption of cerebrospinal fluid (CSF) or obstruction of its pathways, resulting in ventricular dilatation... (Review)
Review
Hydrocephalus is caused by an imbalance of production and absorption of cerebrospinal fluid (CSF) or obstruction of its pathways, resulting in ventricular dilatation and increased intracranial pressure. Imaging plays a crucial role in the diagnosis, differential diagnosis and planning of treatment. This review article presents the different types of hydrocephalus und their typical imaging appearance, describes imaging techniques, and discusses differential diagnoses of the different forms of hydrocephalus. Imaging plays a central role in the diagnosis of hydrocephalus. While magnetic resonance (MR) imaging is the first-line imaging modality, computed tomography (CT) is often the first-line imaging test in emergency patients. · Occlusive hydrocephalus is caused by obstruction of CSF pathways.. · Malabsorptive hydrocephalus is caused by impaired CSF absorption.. · The MR imaging protocol should always include sagittal high-resolution T2-weighted images.. · When an inflammatory etiology is suspected, imaging with contrast agent administration is necessary.. · Langner S, Fleck S, Baldauf J et al. Diagnosis and Differential Diagnosis of Hydrocephalus in Adults. Fortschr Röntgenstr 2017; 189: 728 - 739.
Topics: Cerebrospinal Fluid; Contrast Media; Diagnosis, Differential; Evidence-Based Medicine; Humans; Hydrocephalus; Image Enhancement; Magnetic Resonance Imaging; Reproducibility of Results; Sensitivity and Specificity; Tomography, X-Ray Computed
PubMed: 28511266
DOI: 10.1055/s-0043-108550 -
Neurology India 2021Post-traumatic hydrocephalus (PTH) is a sequel of traumatic brain injury (TBI) that is seen more often in patients undergoing decompressive craniectomy (DC). It is... (Review)
Review
BACKGROUND
Post-traumatic hydrocephalus (PTH) is a sequel of traumatic brain injury (TBI) that is seen more often in patients undergoing decompressive craniectomy (DC). It is associated with prolonged hospital stay and unfavorable outcomes.
OBJECTIVE
To study the incidence and risk factors for development of PTH in patients undergoing DC in our institution and to review the literature on PTH with respect to incidence, risk factors, pathophysiology, and outcomes of management.
METHODS
Data from 95 patients (among 220 patients who underwent DC for TBI and fulfilled the inclusion criteria) over a 5-year period at Christian Medical College, Vellore were collected and analyzed to study the incidence and possible risk factors for development of PTH. A review of the literature on PTH was performed by searching PUBMED resources.
RESULTS
Thirty (31.6%) out of 95 patients developed post-traumatic ventriculomegaly, of whom seven (7.3%) developed symptomatic PTH, necessitating placement of ventriculoperitoneal shunt (VPS). No risk factor for development of PTH could be identified. The reported incidence of PTH in the literature is from 0.07% to 29%, with patients undergoing DC having a higher incidence. Younger age, subarachnoid hemorrhage, severity of TBI, presence of subdural hygroma, and delayed cranioplasty after DC are the main risk factors reported in the literature.
CONCLUSIONS
PTH occurs in a significant proportion of patients with TBI and can lead to unfavorable outcomes. PTH has to be distinguished from asymptomatic ventriculomegaly as early as possible so that a CSF diversion procedure can be planned early during development of PTH.
Topics: Decompressive Craniectomy; Humans; Hydrocephalus; Incidence; Postoperative Complications; Ventriculoperitoneal Shunt
PubMed: 35102998
DOI: 10.4103/0028-3886.332264 -
Neurocritical Care Aug 2023Aneurysmal subarachnoid hemorrhage is a medical condition that can lead to intracranial hypertension, negatively impacting patients' outcomes. This review article... (Review)
Review
Aneurysmal subarachnoid hemorrhage is a medical condition that can lead to intracranial hypertension, negatively impacting patients' outcomes. This review article explores the underlying pathophysiology that causes increased intracranial pressure (ICP) during hospitalization. Hydrocephalus, brain swelling, and intracranial hematoma could produce an ICP rise. Although cerebrospinal fluid withdrawal via an external ventricular drain is commonly used, ICP monitoring is not always consistently practiced. Indications for ICP monitoring include neurological deterioration, hydrocephalus, brain swelling, intracranial masses, and the need for cerebrospinal fluid drainage. This review emphasizes the importance of ICP monitoring and presents findings from the Synapse-ICU study, which supports a correlation between ICP monitoring and treatment with better patient outcomes. The review also discusses various therapeutic strategies for managing increased ICP and identifies potential areas for future research.
Topics: Humans; Subarachnoid Hemorrhage; Intracranial Pressure; Brain Edema; Hydrocephalus; Intracranial Hypertension; Monitoring, Physiologic
PubMed: 37280411
DOI: 10.1007/s12028-023-01752-y -
Cancer Control : Journal of the Moffitt... Jan 2017Cerebrospinal fluid (CSF) is found around and inside the brain and vertebral column. CSF plays a crucial role in the protection and homeostasis of neural tissue.
BACKGROUND
Cerebrospinal fluid (CSF) is found around and inside the brain and vertebral column. CSF plays a crucial role in the protection and homeostasis of neural tissue.
METHODS
Key points on the physiology of CSF as well as the diagnostic and treatment options for hydrocephalus are discussed.
RESULTS
Understanding the fundamentals of the production, absorption, dynamics, and pathophysiology of CSF is crucial for addressing hydrocephalus. Shunts and endoscopic third ventriculostomy have changed the therapeutic landscape of hydrocephalus.
CONCLUSIONS
The treatment of hydrocephalus in adults and children represents a large part of everyday practice for the neurologist, both in benign cases and cancer-related diagnoses.
Topics: Adult; Cerebrospinal Fluid; Humans; Hydrocephalus
PubMed: 28178707
DOI: 10.1177/107327481702400102 -
European Journal of Medical Genetics Aug 2014Hydrocephalus is a common but complex condition caused by physical or functional obstruction of CSF flow that leads to progressive ventricular dilatation. Though... (Review)
Review
Hydrocephalus is a common but complex condition caused by physical or functional obstruction of CSF flow that leads to progressive ventricular dilatation. Though hydrocephalus was recently estimated to affect 1.1 in 1000 infants, there have been few systematic assessments of the causes of hydrocephalus in this age group, which makes it a challenging condition to approach as a scientist or as a clinician. Here, we review contemporary literature on the epidemiology, classification and pathogenesis of infantile hydrocephalus. We describe the major environmental and genetic causes of hydrocephalus, with the goal of providing a framework to assess infants with hydrocephalus and guide future research.
Topics: Animals; Humans; Hydrocephalus; Infant
PubMed: 24932902
DOI: 10.1016/j.ejmg.2014.06.002 -
Neuron May 2023Post-hemorrhagic hydrocephalus (PHH) refers to a life-threatening accumulation of cerebrospinal fluid (CSF) that occurs following intraventricular hemorrhage (IVH). An...
Post-hemorrhagic hydrocephalus (PHH) refers to a life-threatening accumulation of cerebrospinal fluid (CSF) that occurs following intraventricular hemorrhage (IVH). An incomplete understanding of this variably progressive condition has hampered the development of new therapies beyond serial neurosurgical interventions. Here, we show a key role for the bidirectional Na-K-Cl cotransporter, NKCC1, in the choroid plexus (ChP) to mitigate PHH. Mimicking IVH with intraventricular blood led to increased CSF [K] and triggered cytosolic calcium activity in ChP epithelial cells, which was followed by NKCC1 activation. ChP-targeted adeno-associated viral (AAV)-NKCC1 prevented blood-induced ventriculomegaly and led to persistently increased CSF clearance capacity. These data demonstrate that intraventricular blood triggered a trans-choroidal, NKCC1-dependent CSF clearance mechanism. Inactive, phosphodeficient AAV-NKCC1-NT51 failed to mitigate ventriculomegaly. Excessive CSF [K] fluctuations correlated with permanent shunting outcome in humans following hemorrhagic stroke, suggesting targeted gene therapy as a potential treatment to mitigate intracranial fluid accumulation following hemorrhage.
Topics: Humans; Choroid Plexus; Hydrocephalus; Cerebral Hemorrhage
PubMed: 36893755
DOI: 10.1016/j.neuron.2023.02.020 -
Nature Medicine Nov 2020Congenital hydrocephalus (CH), characterized by enlarged brain ventricles, is considered a disease of excessive cerebrospinal fluid (CSF) accumulation and thereby...
Congenital hydrocephalus (CH), characterized by enlarged brain ventricles, is considered a disease of excessive cerebrospinal fluid (CSF) accumulation and thereby treated with neurosurgical CSF diversion with high morbidity and failure rates. The poor neurodevelopmental outcomes and persistence of ventriculomegaly in some post-surgical patients highlight our limited knowledge of disease mechanisms. Through whole-exome sequencing of 381 patients (232 trios) with sporadic, neurosurgically treated CH, we found that damaging de novo mutations account for >17% of cases, with five different genes exhibiting a significant de novo mutation burden. In all, rare, damaging mutations with large effect contributed to ~22% of sporadic CH cases. Multiple CH genes are key regulators of neural stem cell biology and converge in human transcriptional networks and cell types pertinent for fetal neuro-gliogenesis. These data implicate genetic disruption of early brain development, not impaired CSF dynamics, as the primary pathomechanism of a significant number of patients with sporadic CH.
Topics: Brain; Cerebral Ventricles; Exome; Female; Genetic Predisposition to Disease; Humans; Hydrocephalus; Male; Mutation; Neural Stem Cells; Neurogenesis; Neuroglia; Transcription Factors; Tripartite Motif Proteins; Ubiquitin-Protein Ligases; Exome Sequencing
PubMed: 33077954
DOI: 10.1038/s41591-020-1090-2