Congenital Hydrocephalus

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Congenital Hydrocephalus

Topic Overview

What is congenital hydrocephalus?

Congenital hydrocephalus is a buildup of excess cerebrospinal fluid (CSF) in the brain at birth. The extra fluid can increase pressure in the baby's brain, causing brain damage and mental and physical problems. Finding the condition early and treating it quickly can help limit any long-term problems. But long-term effects mostly depend on what caused the fluid buildup, how bad it gets, and how the baby responds to treatment.

This condition is rare. About 1 out of 1,000 babies is born with it.2 This means that about 999 babies out of 1,000 are not born with it. When hydrocephalus doesn't occur until later in life, it is called acquired hydrocephalus. This topic focuses on hydrocephalus that is present at birth (congenital).

What causes congenital hydrocephalus?

This condition is caused by an imbalance between how much CSF the brain makes and how well the body is able to process it.

Normally, CSF flows through and out of chambers of the brain called ventricles, and then around the brain and spinal cord. The fluid is then absorbed by the thin tissue around the brain and spinal cord. But with hydrocephalus, the fluid can't move where it needs to or is not absorbed as it should be. And in rare cases, the brain makes too much fluid.

Congenital hydrocephalus may happen because of:

What are the symptoms?

The clearest symptom of hydrocephalus is a head that is larger than normal. You and your doctor may notice it at birth or within the first several months after your baby is born. But keep in mind that babies' heads grow a lot during the first year. It is only when the head size grows faster than the normal rate for a baby's height and weight that your doctor may think that there is a problem.

The condition may cause the soft spot (fontanelle) on your baby’s head to feel firm or bulge out. If pressure builds in the brain, your baby may:

  • Be irritable.
  • Sleep too much.
  • Vomit.
  • Eat very little.

How is congenital hydrocephalus diagnosed?

Your doctor may suspect that your baby has congenital hydrocephalus if your baby’s head is larger than normal. Your doctor can check for the problem during a physical examination soon after birth.

Your baby may need imaging tests, such as a CT scan, an MRI, or an ultrasound, that can give a picture of the brain with more detail. A fetal ultrasound can sometimes show the problem before birth while the baby is in the uterus.

How is it treated?

Early treatment during the baby’s first 3 or 4 months of life is important to help limit or prevent brain damage. Treatment aims to reduce the amount of CSF in the brain to relieve pressure.

In most cases, the doctor places a flexible tube (shunt) in the brain to drain the fluid. The shunt may stay in the brain forever. But it may have to be fixed or replaced later if there is a problem.

After treatment, watch your child closely to make sure that the fluid is draining. You will need to watch for signs of infection or other problems such as:

  • Irritability.
  • Poor appetite.
  • Sleeping too much.
  • Vomiting often.
  • Fever and redness along the shunt tract or valve.

A child with congenital hydrocephalus is at risk for development problems and may need physical or speech therapy.

It can be hard to wait and see if symptoms will return. And if your child has special needs, it can be a challenge to take care of him or her. Try to take good care of yourself. And ask your doctor about support groups and organizations that can help you and your child.

Frequently Asked Questions

Learning about congenital hydrocephalus:

Being diagnosed:

Getting treatment:

Living with congenital hydrocephalus:

Symptoms

The symptoms of congenital hydrocephalus usually are noticed at birth or within the first 9 months of life. Symptoms may not be as obvious in toddlers and older children. A baby may have:

  • A large head that may get bigger very quickly. Usually a baby with congenital hydrocephalus will have a noticeably bigger head than other babies the same age.
  • A slightly bulging soft spot (fontanelle) on top of the head that doesn't go away when the baby is held upright. A baby may also have larger-than-normal areas between the skull bones (sutures).
  • A shiny scalp, with prominent blood vessels.
  • A downward gaze and retracted eyelids, which reveal the whites of the eyes above the irises ("sun-setting of the eyes").

If pressure in the baby's head builds, symptoms will get worse and may include:

  • Irritability.
  • Excessive sleeping.
  • Poor appetite and frequent vomiting.
  • Inability to track you well with his or her eyes.
  • High-pitched crying.

Other types of hydrocephalus may produce the same or similar symptoms at any age.

Examinations and Tests

Congenital hydrocephalus is sometimes diagnosed before birth with a fetal ultrasound. But most cases are diagnosed during a physical examination at or soon after birth. Congenital hydrocephalus usually is first suspected because of a larger-than-normal head size. A doctor will also look for other physical signs, such as eyes that almost always look down and a lot of white showing above the irises ("sunsetting of the eyes"). A doctor will also ask about how your baby is eating and sleeping or whether he or she has seemed fussy.

A doctor may request one or more tests to confirm a diagnosis of congenital hydrocephalus or to further evaluate the condition. Imaging tests may be used to find out whether extra fluid is building in the brain, to look at the brain's structure, or to evaluate the flow of cerebrospinal fluid within and through the brain's ventricles and into the spinal column. These tests include:

Other tests that may be done include:1

  • Lumbar puncture, a procedure in which doctors take a sample of cerebrospinal fluid (CSF). Doctors analyse the CSF sample to see whether an infection may be causing symptoms. This test helps doctors to measure the pressure of CSF within the skull. It may also allow some controlled drainage of CSF. A lumbar puncture usually is only done for communicating hydrocephalus, which is hydrocephalus not caused by an obstruction.
  • Genetic test, which examines a DNA sample to test for abnormal genes or to analyse the number, arrangement, and characteristics of the chromosomes. This may be done if the parents' medical histories indicate the possibility that a baby has inherited hydrocephalus. Genetic counselling is recommended along with this testing.

Treatment Overview

Treatment for congenital hydrocephalus focuses on lowering the amount of cerebrospinal fluid (CSF) in the brain to relieve pressure. Early treatment—within a baby's first 3 to 4 months—is important to help limit or prevent brain damage. But the long-term effects of congenital hydrocephalus depend largely on the cause of the condition, its severity, and the response to treatment. Other problems within the brain can also affect a child's outcome.

Initial treatment

When a newborn is diagnosed with congenital hydrocephalus, a shunt usually is surgically inserted in the brain to drain excess cerebrospinal fluid (CSF). Typically, one end of the shunt is placed in the ventricles in the brain and then is threaded out of the brain just below the skin under the scalp. Continuing under the skin, it goes behind the ear, down the neck, and into another part of the body—usually the abdomen—which then absorbs the CSF. Removing the excess fluid lowers the pressure within the brain, which helps to prevent or minimize brain damage.

Sometimes temporary emergency measures are needed to reduce or drain fluid until a shunt can be inserted. Such treatments may include:

  • Acetazolamide or furosemide medicines, to slow the production of CSF in the brain.
  • A lumbar puncture, which sometimes is used to help drain CSF from the brain until a shunt can be surgically implanted.
  • Draining the CSF from the skull so it collects in a bag outside of the body. This is often done when a child cannot get a permanent shunt placed right away.

For non-communicating hydrocephalus (caused by an obstruction), a surgical procedure called endoscopic third ventriculostomy (ETV) may be done instead of a shunt placement. In ETV, a small hole is made in the third ventricle of the brain, allowing cerebrospinal fluid to flow freely. While ETV may be used during ongoing treatment as a way to prevent shunt placement, it is not used as initial treatment in newborns. If ETV fails during ongoing treatment, your child will need a shunt placed at a later time.2 Regardless of whether ETV or a shunt is used, your child will need to be watched closely over time to make sure the cerebrospinal fluid drains properly.

Ongoing treatment

Ongoing treatment for congenital hydrocephalus usually requires lifelong shunt use and close monitoring by a health care team, which may include a neurologist, a neurological surgeon, a family doctor, a pediatrician, and a developmental pediatrician.

During routine appointments, your doctor will usually measure the size of your child's head and check your child's eyes for signs of pressure. Your doctor will also assess your child's neurological development and find out whether he or she has the same abilities as most other children around the same age. For example, if your child is about 12 months old, your doctor may ask you whether he or she can say a few words. At some visits, your doctor may order a computed tomography (CT) scan or magnetic resonance imaging (MRI) of the head and spine to ensure that cerebrospinal fluid (CSF) is draining properly.

Be alert for signs of shunt infection or malfunction. Excess CSF buildup in the brain can result in permanent brain damage.

For non-communicating (obstructive) congenital hydrocephalus, an endoscopic third ventriculostomy (ETV) may be done instead of shunt replacement or repair. For an ETV, an endoscope is inserted through a small hole and helps open ventricles within the brain. With ETV, CSF fluid is diverted around the blockage and absorbed outside of the brain without an implanted shunt. Even though in the past it was thought to be a permanent solution for some cases of obstructive congenital hydrocephalus, ETV can also fail over time. It is important to have close monitoring for any signs of CSF buildup within the brain.

Regardless of the type of treatment, pay close attention for signs of any brain damage that affects function, such as delayed learning, failure to reach developmental milestones, or losing any physical or mental skills. Problems or delays are treated according to the specific issue (for instance, speech therapy for speech delays).

Your doctors will discuss whether your child will need special care or have lifestyle restrictions. If problems from brain damage develop, you will be guided to the appropriate therapy or developmental program.

Treatment if the condition gets worse

No permanent cure for congenital hydrocephalus exists. Even when initial treatment is successful, cerebrospinal fluid (CSF) can build up within the brain again, causing symptoms to recur. Usually, problems are related to shunt malfunction or infection, which requires repair or replacement.

  • About half or a little over half of shunts fail within the first 5 years.2 Shunt failure or malfunction causes fluid to again build up within the brain, producing symptoms of irritability, excessive sleeping, poor appetite, frequent vomiting, eye-tracking problems, and high-pitched crying. After early childhood, other symptoms may be noticed, such as vision problems, neck pain, confusion or behavioural changes, problems walking, seizures, or urinary incontinence.
  • If the shunt causes infection, these same symptoms may occur, along with a fever. About 5 out of 100 children will get an infection from the shunt.2 Infections most often occur within the first 3 months after shunt placement.
  • The cause of the shunt malfunction or type of infection must be found in order to properly manage the problem. For example, a shunt tap, lumbar puncture, and fluid analysis may be done to confirm a suspected infection and to identify the type of bacteria present. This information allows a doctor to prescribe the most effective antibiotic. If an infection is present, doctors will likely remove and replace the shunt.

CSF can also build up again after failure of an endoscopic third ventriculostomy (ETV). If this happens, surgery is needed to either repeat the ETV or to implant a shunt.

If CSF buildup is an emergency, it can be drained by penetration through the scalp or skull until the child is stabilized enough to have further surgical treatment.

Permanent brain damage caused by excess CSF buildup requires treatment that focuses on specific developmental problems. For example, if brain damage causes disabilities, treatment will target a wide range of issues, such as speech and motor skill development.

Your doctors will discuss with you whether your child will need special care or have lifestyle restrictions. You will also be taught to recognize developmental delays or other signs of brain damage. If problems from brain damage develop, you will be guided to the appropriate therapy or developmental program.

Home Treatment

Home treatment for congenital hydrocephalus consists of watching your child for any changes that might mean pressure on the brain or failure of a shunt.

  • Watch for signs of fluid buildup in the brain. You will need to periodically evaluate head circumference and be alert for symptoms, such as irritability, excessive sleeping, poor appetite, frequent vomiting, eye-tracking problems, and high-pitched crying. If your child has a shunt, these symptoms may mean that it is not working properly.
  • Be alert for signs of cerebrospinal fluid (CSF) buildup after early childhood. Other symptoms that may be noticed include headaches that get worse over time, vision problems, neck pain, confusion, slurred speech, behavioural changes, problems walking, seizures, or urinary incontinence.
  • Also, shunt infections may produce a fever and redness along the shunt tract or valve.

See your doctor immediately if you notice any of these problems.

For the caregiver

Being a parent of a child with congenital hydrocephalus can be full of challenges. Although many children who are diagnosed and treated early avoid severe long-term problems, it can be hard to handle the uncertainty of whether symptoms will return. Also, congenital hydrocephalus sometimes causes brain damage that impacts your child's physical or mental abilities. Take good care of yourself so you have the energy to take proper care of and enjoy your child.

While there are no official guidelines to restrict activities in children who have shunts, some doctors may suggest that severe contact sports be restricted.

You may want to ask your doctors about support groups and organizations that can assist you with managing your child's special needs. For more information on available resources, see the Other Places to Get Help section of this topic.

Other Places To Get Help

Organizations

Spina Bifida and Hydrocephalus Association of Canada
977-167 Lombard Avenue
Winnipeg, MB  R3B 0V3
Phone: (204) 925-3650
1-800-565-9488
Fax: (204) 925-3654
Email: info@sbhac.ca
Web Address: www.sbhac.ca
 

The Spina Bifida and Hydrocephalus Association of Canada works to improve the lives of those with spina bifida and/or hydrocephalus through research, advocacy, and programs designed to increase public awareness of and education about these conditions.


Canadian Paediatric Society
2305 Saint Laurent Boulevard
Ottawa, ON  K1G 4J8
Phone: (613) 526-9397
Fax: (613) 526-3332
Email: info@cps.ca
Web Address: www.cps.ca
 

The Canadian Paediatric Society (CPS) promotes quality health care for Canadian children and establishes guidelines for paediatric care. The organization offers educational materials on a variety of topics, including information on immunizations, pregnancy, safety issues, and teen health.


References

Citations

  1. Seiff ME (2003). Hydrocephalus section of Developmental, neurocutaneous, and genetic metabolic disorders. In RW Evans, ed., Saunders Manual of Neurologic Practice, pp. 889–895. Phildelphia: Saunders.
  2. Feldstein NA, Anderson R (2006). Diagnosis and management of hydrocephalus. In FD Burg et al., eds., Current Pediatric Therapy, 18th ed., pp. 374–377. Philadelphia: Saunders Elsevier.

Other Works Consulted

  • Fishman MA (2003). Hydrocephalus section of Disturbances in neural tube closure and spine. In CD Rudolph et al., eds., Rudolph's Pediatrics, 21st ed., pp. 2180–2184. New York: McGraw-Hill.
  • Kinsman SL, Johnston MV (2007). Hydrocephalus section of Congenital anomalies of the central nervous system. In RM Kliegman et al., eds., Nelson Textbook of Pediatrics, 18th ed., pp. 2452–2455. Philadelphia: Saunders Elsevier.
  • Prockop LD (2010). Hydrocephalus. In LP Rowland, TA Pedley, eds., Merritt's Neurology, 12th ed., chap. 53, pp. 349–355. Philadelphia: Lippincott Williams and Wilkins.
  • Ropper AH, Samuels MA (2009). Disturbances of cerebrospinal fluid and its circulation, including hydrocephalus, pseudotumor cerebri, and low-pressure syndromes. In Adams and Victor's Principles of Neurology, 9th ed., pp. 591–611. New York: McGraw-Hill.

Credits

By Healthwise Staff
Primary Medical Reviewer Susan C. Kim, MD - Pediatrics
Specialist Medical Reviewer John Pope, MD - Pediatrics
Specialist Medical Reviewer Thomas Emmett Francoeur, MD, MDCM, CSPQ, FRCPC - Pediatrics
Last Revised April 6, 2010

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