11/10/2019 Hydrocephalus - Pediatrics - MSD Manual Professional Edition

MSD MANUAL
Professional Version
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Hydrocephalus
By Stephen J. Falchek , MD, Nemours/Alfred I. duPont Hospital for Children

Last full review/revision December 2018 by Stephen J. Falchek, MD

Hydrocephalus is accumulation of excessive amounts of CSF, causing cerebral ventricular enlargement

and/or increased intracranial pressure. Manifestations can include enlarged head, bulging fontanelle,
irritability, lethargy, vomiting, and seizures. Diagnosis is by ultrasonography in neonates and young
infants with an open fontanelle and by CT or MRI in older infants and children. Treatment ranges from
observation to surgical intervention, depending on severity and progression of symptoms.

Hydrocephalus (Enlarged Skull)

STEVE ALLEN/SCIENCE PHOTO LIBRARY

Hydrocephalus is the most common cause of abnormally large heads in neonates. Hydrocephalus that develops only
after the fontanelles have closed does not increase head circumference or cause the fontanelle to bulge but can
markedly and rapidly increase intracranial pressure.

Etiology
Hydrocephalus can result from
Obstruction of CSF flow (obstructive hydrocephalus)

Impaired resorption of CSF (communicating hydrocephalus)

It can be either congenital or acquired from events during or after birth.

To date there are only four known genes associated with congenital hydrocephalus. LICAM1 and AP1S2 are X-linked,
and CCDC88C and MPDZ are autosomal recessive (1).
Obstruction most often occurs in the aqueduct of Sylvius but sometimes at the outlets of the 4th ventricle (Luschka
and Magendie foramina). The most common causes of obstructive hydrocephalus are
Aqueductal stenosis

Dandy-Walker malformation

Chiari II type malformation

Aqueductal stenosis is narrowing of the outflow pathway for CSF from the 3rd ventricle to the 4th ventricle. It may be
either primary, or secondary to scarring or narrowing of the aqueduct resulting from a tumor, hemorrhage, or
infection. Primary aqueductal stenosis may involve true stenosis (forking of the aqueduct into smaller, poorly
functioning channels) or presence of a septum in the aqueduct. Primary aqueductal stenosis may be inheritable; there

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are many genetic syndromes, some of which are X-linked (thus male infants inherit the condition from otherwise
unaffected mothers).
Dandy-Walker malformation comprises progressive cystic enlargement of the 4th ventricle in fetal life, resulting in
complete or partial agenesis of the cerebellar vermis and hydrocephalus. It is likely related to a failure of formation of
the foramen of Magendie in the fetus. Associated anomalies of the CNS are common, including agenesis of the corpus
callosum and heterotopias. Dandy-Walker malformation accounts for 5 to 10% of cases of congenital hydrocephalus.
In Chiari II (formerly Arnold-Chiari) malformation, hydrocephalus occurs with spina bifida and syringomyelia.
Significant elongation of the cerebellar tonsils in Chiari I type malformation or midline vermis in Chiari II causes them
to protrude through the foramen magnum, with beaking of the colliculi and thickening of the upper cervical spinal
cord.
Impaired resorption in the subarachnoid spaces usually results from meningeal inflammation, secondary either to
infection or to blood in the subarachnoid space, resulting from either subarachnoid hemorrhages or intraventricular
hemorrhages, which are complications of delivery, particularly in premature infants.

Etiology reference
1. Shaheen R, Sebai MA, Patel N, et al: The genetic landscape of familial hydrocephalus. Ann Neurol 81(6):890–897,
2017. doi: 10.1002/ana.24964.

Symptoms and Signs

Neurologic findings depend on whether intracranial pressure is increased, symptoms of which in infants include
irritability, high-pitched cry, vomiting, lethargy, strabismus, and bulging fontanelle. Older, verbal children may
complain of headache, decreased vision, or both. Papilledema is a late sign of increased intracranial pressure; its initial
absence does not exclude hydrocephalus.
Consequences of chronic hydrocephalus may include precocious puberty in girls, learning disorders (eg, difficulties
with attention, information processing, and memory), loss of vision, and impaired executive function (eg, problems
with conceptualizing, abstracting, generalizing, reasoning, and organizing and planning information for problem-
solving).

Diagnosis
Prenatal ultrasonography

Neonates: Cranial ultrasonography

Older infants and children: CT or MRI

Diagnosis of hydrocephalus is often made by routine prenatal ultrasonography.

After birth, diagnosis is suspected if routine examination reveals an increased head circumference; infants may have a
bulging fontanelle or widely separated cranial sutures. Similar findings can result from intracranial, space-occupying
lesions (eg, subdural hematomas, porencephalic cysts, tumors). Macrocephaly may result from an underlying brain
problem (eg, Alexander disease or Canavan disease), or it may be a benign, sometimes inherited, feature characterized
by an increased amount of CSF surrounding a normal brain. Children suspected of having hydrocephalus require
cranial imaging by CT, MRI, or ultrasonography (if the anterior fontanelle is open).
Cranial CT or ultrasonography is used to monitor progression of hydrocephalus once an anatomic diagnosis has been
made. If seizures occur, an EEG may be helpful.

Treatment
Sometimes observation or serial lumbar punctures

For severe cases, a ventricular shunt procedure

Treatment of hydrocephalus depends on etiology, severity, and whether hydrocephalus is progressive (ie, size of the
ventricles increases over time relative to the size of the brain). Mild, nonprogressive cases may be observed with serial
imaging studies and measurement of head size. To temporarily reduce CSF pressure in infants, ventricular taps or
serial lumbar punctures (if the hydrocephalus is communicating) may be used.
Progressive hydrocephalus usually requires a ventricular shunt. Shunts typically connect the right lateral ventricle to
the peritoneal cavity or, rarely, to the right atrium via a plastic tube with a one-way, pressure-relief valve. When a shunt
is first placed in an infant or older child whose fontanelle is closed, rapid withdrawal of fluid can cause subdural
bleeding as the brain shrinks away from the skull. When the fontanelles are open, the skull can decrease in

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circumference to match the decrease in brain size; thus, some clinicians recommend an early decision regarding shunt
placement so that it can be done before fontanelle closure.
In a third ventriculostomy, an opening is created endoscopically between the 3rd ventricle and the subarachnoid
space, allowing CSF to drain. This procedure is often combined with ablation of the choroid plexus and is becoming
more commonly used in the US. It is particularly useful in less developed countries where access to consistent
neurosurgical care is often limited. In certain cases (eg, hydrocephalus caused by primary aqueductal stenosis), third
ventriculostomy may be adequate primary treatment.
A ventricular shunt that goes to the subgaleal space may be used in infants as a temporary measure for patients who
may not require a more permanent shunt.
Although some children do not need the shunt as they age, shunts are rarely removed because of the risk of bleeding
and trauma. Fetal surgery to treat congenital hydrocephalus has not been successful.

Shunt complications
The type of ventricular shunt used depends on the neurosurgeon’s experience, although ventriculoperitoneal shunts
cause fewer complications than ventriculoatrial shunts. Shunt complications include
Infection

Malfunction

Any shunt has a risk of infection. Manifestations include chronic fever, lethargy, irritability, headache, or a combination
and other symptoms and signs of increased intracranial pressure; sometimes redness becomes apparent over the
shunt tubing. Antibiotics effective against the organism infecting the shunt, which may include skin flora, are given,
and typically the shunt must be removed and replaced.
Shunts can malfunction because of a mechanical obstruction (typically blockage at the ventricular end) or because of
fracture of the tubing. In either case, intracranial pressure can increase, which, if sudden, can be a medical emergency.
Children present with headache, vomiting, lethargy, irritability, esotropia, or paralysis of upward gaze. Seizures may
occur. If the obstruction is gradual, more subtle symptoms and signs can occur, such as irritability, poor school
performance, and lethargy, which may be mistaken for depression. To assess shunt function, a shunt series (x-rays of
the shunt tubing) and neuroimaging studies are done. The ability to compress the bulb that is present on many shunt
systems is not a reliable sign of shunt function.
After the shunt is placed, head circumference and development are assessed, and imaging is done periodically.

Key Points

Hydrocephalus is usually caused by obstruction to the normal flow of CSF but can be due to impaired
resorption of CSF.

If the disorder occurs before the cranial sutures have fused, the head may be enlarged, with bulging
fontanelles.

Neurologic symptoms develop mainly if intracranial pressure increases; infants may have irritability,
high-pitched cry, vomiting, lethargy, and strabismus.

Diagnose using ultrasonography prenatally and in neonates; use MRI or CT for older children.

Treat with observation or serial lumbar punctures or a ventricular shunt procedure depending on the
etiology and severity and progression of symptoms.

© 2019 Merck Sharp & Dohme Corp., a subsidiary of Merck & Co., Inc., Kenilworth, NJ, USA)

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Syrinx of the Spinal Cord or Brain

Stem
A syrinx is a fluid-filled cavity within the spinal
cord (syringomyelia) or brain stem
(syringobulbia). Predisposing factors include
craniocervical junction abnormalities,
previous spinal cord trauma, and spinal cord
tumors. Symptoms include..read more

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