Hydrocephalus is a condition in which cerebrospinal fluid (CSF) builds up within the brain.[1] This typically causes increased pressure inside the skull. Older people may have headaches, double vision, poor balance, urinary incontinence, personality changes, or mental impairment. In babies, there may be a rapid increase in head size. Other symptoms may include vomiting, sleepiness, seizures, and downward pointing of the eyes.[1]
Hydrocephalus | |
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Other names | Water on the brain[1] |
Hydrocephalus as seen on a CT scan of the brain. The black areas in the middle of the brain (the lateral ventricles) are abnormally large and filled with fluid. | |
Pronunciation |
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Specialty | Neurosurgery |
Symptoms | Babies: rapid head growth, vomiting, sleepiness, seizures[1] Older people: Headaches, double vision, poor balance, urinary incontinence, personality changes, mental impairment[1] |
Causes | Neural tube defects, meningitis, brain tumors, traumatic brain injury, brain bleed during birth, intraventricular hemorrhage[1] |
Diagnostic method | Based on symptoms and medical imaging[1] |
Treatment | Surgery[1] |
Prognosis | Variable, often normal life[1] |
Frequency | Varies throughout the world, from 1 per 256 live births to 1 per 9,000, depending on access to prenatal health care, prenatal tests, and abortion[1][3] |
Hydrocephalus can occur due to birth defects (primary) or be acquired later in life (secondary).[1] Hydrocephalus can be classified via mechanism into communicating, noncommunicating, ex vacuo, and normal pressure hydrocephalus. Diagnosis is typically made by physical examination and medical imaging.[1]
Hydrocephalus is typically treated by the surgical placement of a shunt system.[1] A procedure called a third ventriculostomy is an option in some people.[1] Outcomes are variable, but many people with shunts live normal lives.[1] Without treatment, permanent disability or death may occur.[1]
About one to two per 1,000 newborns have hydrocephalus.[1][3] Rates in the developing world may be higher.[4] Normal pressure hydrocephalus is estimated to affect about 5 per 100,000 people, with rates increasing with age.[5] Description of hydrocephalus by Hippocrates dates back more than 2,000 years.[4] The word hydrocephalus is from the Greek ὕδωρ, hydōr, meaning 'water' and κεφαλή, kephalē, meaning 'head'.[6]
The clinical presentation of hydrocephalus varies with chronicity. Acute dilatation of the ventricular system is more likely to manifest with the nonspecific signs and symptoms of increased intracranial pressure (ICP). By contrast, chronic dilatation (especially in the elderly population) may have a more insidious onset presenting, for instance, with Hakim's triad (Adams' triad).[7]
Symptoms of increased ICP may include headaches, vomiting, nausea, papilledema, sleepiness, or coma. With increased levels of CSF, there have been cases of hearing loss due to CSF creating pressure on the auditory pathways or disrupting the communication of inner ear fluid.[8] Elevated ICP of different etiologies have been linked to sensorineural hearing loss (SNHL). Transient SNHL has been reported after the loss of CSF with shunt surgeries.[9] Hearing loss is a rare but well-known sequela of procedures resulting in CSF loss.[8] Elevated ICP may result in uncal or tonsillar herniation (where a portion of the brain moves out of place due to increased intracranial pressure),resulting in life-threatening brain stem compression.[10]
Hakim's triad of gait instability, urinary incontinence, and dementia is a relatively typical manifestation of the distinct entity normal-pressure hydrocephalus. Focal neurological deficits may also occur, such as abducens nerve palsy and vertical gaze palsy (Parinaud syndrome due to compression of the quadrigeminal plate, where the neural centers coordinating the conjugated vertical eye movement are located). The symptoms depend on the cause of the blockage, the person's age, and how much brain tissue has been damaged by the swelling.[10]
In infants with hydrocephalus, CSF builds up in the central nervous system (CNS), causing the fontanelle (soft spot of an infant's skull) to bulge and the head to be larger than expected. Early symptoms may also include:[10]
Symptoms that may occur in older children can include:[10]
Because hydrocephalus can injure the brain, thought and behavior may be adversely affected. Learning disabilities, including short-term memory loss, are common among those with hydrocephalus, who tend to score better on verbal IQ than on performance IQ, which is thought to reflect the distribution of nerve damage to the brain.[1] Hydrocephalus that is present from birth can cause long-term complications with speech and language. Children can have issues such as nonverbal learning disorder, difficulty understanding complex and abstract concepts, difficulty retrieving stored information, and spatial/perceptual disorders. Children with hydrocephalus are often known in having the difficulty in understanding the concepts within conversation and tend to use words they know or have heard.[12][13] However, the severity of hydrocephalus can differ considerably between individuals, and some are of average or above-average intelligence. Someone with hydrocephalus may have coordination and visual problems, or clumsiness. They may reach puberty earlier than the average child (this is called precocious puberty). About one in four develops epilepsy.[14]
Hydrocephalus can be caused by a combination of factors and is not fully understood. Any medical condition that interrupts the flow of cerebrospinal fluid (CSF) can cause this build-up of excess fluid. This occurs due to blocked pathways of cerebrospinal fluid (CSF), issues with CSF reabsorption, or increased CSF production.[15]
Hydrocephalus can be classified as primary or secondary (acquired) based on the cause.[16]
Primary hydrocephalus involves congenital, developmental, and genetic factors that lead to excess CSF build-up.[16] Up to 50% of the causes of primary hydrocephalus are genetic.[17]
Congenital hydrocephalus is defined by the presence of excess CSF at birth. It occurs due to a combination of factors, with genetic causes prior to birth, meaning the fetus developed hydrocephalus in utero during fetal development. The most common cause of congenital hydrocephalus is aqueductal stenosis, which occurs when the narrow passage between the third and fourth ventricles in the brain is blocked or too narrow to allow sufficient cerebral spinal fluid to drain. Fluid accumulates in the upper ventricles, causing hydrocephalus.[18]
Developmental disorders including neural-tube defects, arachnoid cysts, Dandy–Walker syndrome, and Arnold–Chiari malformation can also cause primary hydrocephalus. About 80–90% of fetuses or newborn infants with the neural-tube defect spina bifida—often associated with meningocele or myelomeningocele—develop hydrocephalus.[19]
Secondary hydrocephalus is acquired as a consequence of CNS infections, meningitis, brain tumors, head trauma, toxoplasmosis, or intracranial hemorrhage (subarachnoid or intraparenchymal).[20]
Intraventricular hemorrhage, or bleeding within the ventricles of the brain, leads to hydrocephalus in 51-89% of patients.[21] This is because the blood in the ventricles blocks the regular flow of CSF, leading to build-up of excess CSF[21]
Normal pressure hydrocephalus (NPH) most often occurs in elderly patients with symptoms including gait disturbance, urinary incontinence, and cognitive issues.[23] It is commonly divided into two categories, idiopathic NPH (with unknown cause) and secondary NPH (due to trauma, hemorrhage, etc.).[23]
Hydrocephalus can also be caused by overproduction of CSF (relative obstruction) (e.g., choroid plexus papilloma, villous hypertrophy).[24][25]
Bilateral ureteric obstruction is a rare, but reported, cause of hydrocephalus.
Hydrocephalus is due to an imbalance between the amount of CSF produced and the amount reabsorbed (or removed from the ventricular system)[26]. In a person without hydrocephalus, CSF continuously circulates through the brain, its ventricles and the spinal cord and is continuously drained away into the circulatory system. Alternatively, the condition may result from an overproduction of the CSF, from a congenital malformation blocking normal drainage of the fluid, or from complications of head injuries or infections.[27]
The choroid plexus, located in the lateral ventricles, forms the majority of CSF (believed to be around 70-80%). The ependymal lining of the ventricular system, the subarachnoid space, and the blood-brain-barrier forms the rest[26].
CSF flows through the ventricular system through the following pathway:[28]
Lateral Ventricles → Interventricular Foramen of Monro → Third Ventricle → Cerebral Aqueduct → Fourth Ventricle
The CSF then exits the fourth ventricle through the median aperture and lateral aperture. It goes into the subarachnoid space or central canal of the spinal cord. Then, it is absorbed by the vili of arachnoid granulations into the blood circulation.[28]
There is also theory about CSF drainage into the lymphatic vessel system.[28]
Compression of the brain by the accumulating fluid eventually may cause neurological symptoms such as convulsions, intellectual disability, and epileptic seizures. These signs occur sooner in adults, whose skulls are no longer able to expand to accommodate the increasing fluid volume within. Fetuses, infants, and young children with hydrocephalus show head enlargement, excluding the face, because the pressure of the fluid causes the individual skull bones—which have yet to fuse—to bulge outward at their juncture points.[29]
Elevated intracranial pressure from the excess CSF build-up may cause compression of the brain, leading to brain damage and other complications. The mechanism of ICP on hearing loss is presumed that the transmission of CSF pressure to and from the Perilymphatic space through a patent cochlear aqueduct.[30][31] The cochlear aqueduct connects the Perilymphatic space of the inner ear with the subarachnoid space of the posterior cranial fossa.[32] A loss of CSF pressure can induce Perilymphatic loss or endolymphatic hydrops resembling the clinical presentation of Ménière's disease associated hearing loss in the low frequencies.[30]
CSF can accumulate within the ventricles, this condition is called internal hydrocephalus and may result in increased CSF pressure. The production of CSF continues, even when the passages that normally allow it to exit the brain are blocked. Consequently, fluid builds inside the brain, causing pressure that dilates the ventricles and compresses the nervous tissue. Compression of the nervous tissue usually results in irreversible brain damage. If the skull bones are not completely ossified when the hydrocephalus occurs, the pressure may also severely enlarge the head. The cerebral aqueduct may be blocked at the time of birth or may become blocked later in life because of a tumor growing in the brainstem.[33]
The classification of communicating vs. noncommunicating hydrocephalus are often used to describe the types of hydrocephalus. These terms describe the nonobstructive vs. obstructive mechanisms of the excess CSF build-up.
In communicating hydrocephalus, there is no obstruction of CSF flow. Instead, there is either an increased production of CSF or difficulty reabsorbing CSF[34]. Reabsorption occurs at the arachnoid granulations, so issues with reabsorption can occur because of arachnoid granulation impairment. There is also evidence of the lymphatic system being involved with reabsorption, so impairments of this system can also lead to excess CSF. Damage to these reabsorption sites are commonly post-hemorrhage or post-infection (such as meningitis).[34] Scarring and fibrosis of the subarachnoid space following infectious, inflammatory, or hemorrhagic events can also prevent reabsorption of CSF, causing hydrocephalus.[35]
In noncommunicating hydrocephalus, there is obstruction to the CSF flow. Examples of common causes include hemorrhage, tumor, traumatic brain injury that disrupts the flow and causes build-up of CSF in the brain[34].
Hydrocephalus is treated through surgery by creating a way for the excess fluid to drain away. An external ventricular drain (EVD), also known as an extraventricular drain or ventriculostomy, provides relief in the short term.[38] In the long term, some people will need any of the various types of cerebral shunts. It involves the placement of a ventricular catheter (a tube made of silastic) into the cerebral ventricles. This creates a way to bypass the flow obstruction/malfunctioning arachnoidal granulations. The excess fluid drains into other body cavities where it can be resorbed. Most shunts drain the fluid into the peritoneal cavity (ventriculoperitoneal shunt). Other shunts drain the fluid into the right atrium (ventriculoatrial shunt), pleural cavity (ventriculopleural shunt), and gallbladder.[39]
A shunt system can also be placed in the lumbar space of the spine. This allows the excess fluid to be redirected to the peritoneal cavity (lumbar-peritoneal shunt).[40] Another treatment for obstructive hydrocephalus is an endoscopic third ventriculostomy (ETV). This surgery creates an opening in the floor of the third ventricle so that CSF flows directly to the basal cisterns. This treatment can shortcut any obstruction like aqueductal stenosis. This may or may not be appropriate based on individual anatomy. Some infants can be treated with ETV and choroid plexus cauterization. Choroid plexus cauterization reduces the amount of cerebrospinal fluid produced by the brain. The technique, known as ETV/CPC, was pioneered in Uganda by neurosurgeon Benjamin Warf and is now in use in several U.S. hospitals.[41][42]
External hydrocephalus is generally seen in infants. It involves enlarged fluid spaces or subarachnoid spaces outside of the brain. The most common sign is a head circumference above the 90th percentile. In most cases, no other signs or symptoms are reported.[43] Rarely reported symptoms include a tense anterior fontanel, developmental delay, seizures, irritability, and vomiting.[44] Usually, this condition is benign. It resolves spontaneously by two to three years of age.[45] Thus, it usually does not need insertion of a shunt. If surgical treatment is required, a ventriculoperitoneal shunt is usually preferred.[44] Other treatment options include using medications like acetazolamide.[43] The condition can be diagnosed and monitored with brain sonography and CT/MRI. These tests and a good medical history can help to identify external hydrocephalus from similar conditions: subdural hemorrhages or symptomatic chronic extra-axial fluid collections which are accompanied by vomiting, headaches, and seizures.[46][47]
Some risk exists of infection being introduced into the brain through cerebral shunts, as they must be replaced as the person grows.[48][49] Examples of possible complications include shunt malfunction, shunt failure, and shunt infection, along with infection of the shunt tract following surgery (the most common reason for shunt failure is infection of the shunt tract). Although a shunt generally works well, it may stop working if it disconnects, becomes blocked (clogged) or infected, or it is outgrown. If this happens, the CSF begins to accumulate again and a number of physical symptoms develop (headaches, nausea, vomiting, photophobia/light sensitivity), some extremely serious, such as seizures. The shunt failure rate is also relatively high (of the 40,000 surgeries performed annually to treat hydrocephalus, only 30% are a person's first surgery) and people not uncommonly have multiple shunt revisions within their lifetimes.[50]
Another complication can occur when CSF drains more rapidly than it is produced by the choroid plexus, causing symptoms of listlessness, severe headaches, irritability, light sensitivity, auditory hyperesthesia (sound sensitivity), hearing loss,[32] nausea, vomiting, dizziness, vertigo, migraines, seizures, a change in personality, weakness in the arms or legs, strabismus, and double vision to appear when the person is vertical. If the person lies down, the symptoms usually vanish quickly. A CT scan may or may not show any change in ventricle size, particularly if the person has a history of slit-like ventricles. Difficulty in diagnosing over-drainage can make treatment of this complication particularly frustrating for people and their families. Resistance to traditional analgesic pharmacological therapy may also be a sign of shunt overdrainage or failure.[51]
Following placement of a ventriculoperitoneal shunt there have been cases of a decrease in post-surgery hearing. It is presumed that the cochlea aqueduct is responsible for the decrease in hearing thresholds. The cochlea aqueduct has been considered as a probable channel where CSF pressure can be transmitted. Therefore, the reduced CSF pressure could cause a decrease in Perilymphatic pressure and cause secondary endolymphatic hydrops.[32] In addition to the increased hearing loss, there have also been findings of resolved hearing loss after ventriculoperitoneal shunt placement, where there is a release of CSF pressure on the auditory pathways.[52]
The diagnosis of CSF buildup is complex and requires specialist expertise. Diagnosis of the particular complication usually depends on when the symptoms appear, that is, whether symptoms occur when the person is upright or in a prone position, with the head at roughly the same level as the feet.[53]
Standardized protocols for inserting cerebral shunts have been shown to reduce shunt infections.[54][55] There is tentative evidence that preventative antibiotics may decrease the risk of shunt infections.[56]
It is estimated that congenital hydrocephalus occurs in 8.5 out of 10,000 live births globally. The disease burden is more concentrated in Africa, Asia, and South America.[57] A study in 2019 estimated that there are 180,000 childhood hydrocephalus cases from the African continent per year. It also reported 90,000 cases from Southeast Asia and the Western Pacific. Congenital hydrocephalus was found to be associated with many factors. Tthe health of the affected individual's mother is one factor. Exposure to medications in the prenatal period such as antibiotics is another factor. Low socioeceonomic status is also a factor.[57] In adults that are 18–64 years-old, about 11 in 100,000 cases of hydrocephalus is estimated. For adults over 65 years of age, 175 in 100,000 cases is estimated.[58]
In the pre-historic area, there were various paintings or artifacts depicting children or adults with macrocephaly (large head) or clinical findings of hydrocephalus.[59] The earliest scientific description of hydrocephalus was written by the ancient Greek physician Hippocrates, who coined the word 'hydrocephalus' from the Greek ὕδωρ, hydōr meaning 'water' and κεφαλή, kephalē meaning 'head'.[60] A more accurate description was later given by the Roman physician Galen in the second century AD.[60]
The first clinical description of an operative procedure for hydrocephalus appears in the Al-Tasrif (1,000 AD) by the Arab surgeon Abulcasis, who described the evacuation of superficial intracranial fluid in hydrocephalic children.[60] He described it in his chapter on neurosurgical disease, describing infantile hydrocephalus as being caused by mechanical compression. He wrote:[60]
The skull of a newborn baby is often full of liquid, either because the matron has compressed it excessively or for other, unknown reasons. The volume of the skull then increases daily, so that the bones of the skull fail to close. In this case, we must open the middle of the skull in three places, make the liquid flow out, then close the wound and tighten the skull with a bandage.
In 1881, a few years after the landmark study of Retzius and Key, Carl Wernicke pioneered sterile ventricular puncture and external drainage of CSF for the treatment of hydrocephalus.[60] It remained an intractable condition until the 20th century, when cerebral shunt and other neurosurgical treatment modalities were developed.[citation needed]
The first hydrocephalus shunt was placed in 1956.[40]
The word hydrocephalus is from the Greek ὕδωρ, hydōr meaning 'water' and κεφαλή, kephalē meaning 'head'.[6] Other names for hydrocephalus include "water on the brain", a historical name, and "water baby syndrome".[1][61]
September was designated National Hydrocephalus Awareness Month in July 2009 by the U.S. Congress in H.Res. 373. The resolution campaign is due in part to the advocacy work of the Pediatric Hydrocephalus Foundation. Prior to July 2009, no awareness month for this condition had been designated. Many hydrocephalus organizations, such as the One Small Voice Foundation, promote awareness and fundraising activities.[citation needed]
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