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Hydrocephalus in children: Clinical features and diagnosis

Hydrocephalus in children: Clinical features and diagnosis
Literature review current through: Jan 2024.
This topic last updated: Mar 10, 2022.

INTRODUCTION — Hydrocephalus is a disorder in which an excessive amount of cerebrospinal fluid (CSF) accumulates within the cerebral ventricles and/or subarachnoid spaces, resulting in ventricular dilation, and usually with increased intracranial pressure (ICP) [1,2]. Hydrocephalus can be congenital or acquired; both categories include a diverse group of conditions (table 1).

The clinical features and diagnosis of hydrocephalus in children will be reviewed here. The pathophysiology, etiology, management, and prognosis of hydrocephalus are discussed separately. (See "Hydrocephalus in children: Physiology, pathogenesis, and etiology" and "Hydrocephalus in children: Management and prognosis".)

This topic will focus on the clinical features and diagnosis of obstructive and communicating hydrocephalus in childhood, which are almost always associated with increased ICP. Normal pressure hydrocephalus, a condition seen predominantly in adults in which the cerebral ventricles are pathologically enlarged, but the ICP is not elevated, is discussed separately. (See "Normal pressure hydrocephalus".)

The prevention and initial management of hydrocephalus associated with intraventricular hemorrhage in preterm neonates is also discussed in greater detail separately. (See "Germinal matrix and intraventricular hemorrhage (GMH-IVH) in the newborn: Management and outcome".)

TERMINOLOGY — The following terms are used this topic:

Obstructive hydrocephalus – Obstructive hydrocephalus (also called noncommunicating hydrocephalus) refers to excess accumulation of cerebrospinal fluid (CSF) due to structural blockage of CSF flow within the ventricular system. This is the most common form of hydrocephalus in children and is almost always associated with increased intracranial pressure (ICP). (See "Hydrocephalus in children: Physiology, pathogenesis, and etiology", section on 'Obstruction'.)

Communicating hydrocephalus – Communicating hydrocephalus refers to CSF accumulation due to impaired absorption in the subarachnoid spaces. Rarely, it is caused by excessive CSF production. Communicating hydrocephalus is also typically associated with increased ICP. (See "Hydrocephalus in children: Physiology, pathogenesis, and etiology", section on 'Impaired absorption' and "Hydrocephalus in children: Physiology, pathogenesis, and etiology", section on 'Excessive production'.)

There is some overlap in these categories. Many causes of hydrocephalus have both obstructive and absorptive components (table 1), and the absorptive component of the hydrocephalus may change over time.

Normal pressure hydrocephalus – In normal pressure hydrocephalus (NPH), the cerebral ventricles are pathologically enlarged, but the ICP is not elevated. NPH is most often seen in adults over the age of 60 years. NPH is discussed separately. (See "Normal pressure hydrocephalus".)

Ventriculomegaly – Ventriculomegaly is a general term used to describe enlargement of the ventricles as seen on neuroimaging. Ventriculomegaly is a common finding in all forms of hydrocephalus. It is also seen in other conditions that are not associated with hydrocephalus (eg, brain atrophy).

The forms of hydrocephalus described above are distinct from two radiographic findings that include the same word:

"Hydrocephalus ex-vacuo" – This term refers to enlargement of the CSF spaces caused by reduced volume of brain tissue due to atrophy (image 1) or malformation. It is not accompanied by increased ICP.

"Benign external hydrocephalus" – Benign external hydrocephalus (image 2) (also called "benign enlargement of the subarachnoid space" or "benign extra-axial fluid of infancy") is a relatively common cause of macrocephaly in infancy and frequently occurs in other family members [3,4]. As the name implies, the condition is self-limited and affected infants usually do not require any intervention. (See "Macrocephaly in infants and children: Etiology and evaluation", section on 'Benign enlargement of the subarachnoid space'.)

CLINICAL FEATURES — The signs and symptoms of hydrocephalus result from increased intracranial pressure (ICP) and dilatation of the ventricles. The presentation depends upon the following factors [5]:

Timing of onset (relative to closure of cranial sutures) – If hydrocephalus develops in infancy prior to fusion of the cranial sutures, signs of ICP may be absent or mild. The most common presenting complaint in this population is enlarging head circumference. In contrast, when hydrocephalus develops in older children, neurologic complaints and symptoms of increased ICP are more common. (See "Hydrocephalus in children: Physiology, pathogenesis, and etiology", section on 'Pathophysiology'.)

The duration and rate of rise in ICP – If accumulation of excessive cerebrospinal fluid (CSF) is slow, allowing adjustments to occur, the patient may have a long period without symptoms. By contrast, rapid progression of ventricular dilatation typically results in early development of symptoms. (See "Hydrocephalus in children: Physiology, pathogenesis, and etiology", section on 'Pathophysiology'.)

The presence of associated structural abnormalities – Infants and children with hydrocephalus caused by space-occupying lesions may present with focal neurologic signs rather than or in addition to signs of increased ICP. (See "Clinical manifestations and diagnosis of central nervous system tumors in children", section on 'Common presenting signs and symptoms'.)

Common signs and symptoms — Symptoms of hydrocephalus are nonspecific and independent of the etiology [6]. Infants and children with mild hydrocephalus may be asymptomatic. Symptoms, when present, may include:

Headache – Headache is a prominent symptom. It is caused by distortion of the meninges and blood vessels. The pain often varies in intensity and location and may be intermittent or persistent. Headaches due to increased ICP tend to occur in the early morning and may be associated with nausea and vomiting. They tend to occur in the morning because venous pressure is higher in the recumbent position; this reduces CSF absorption and increases ICP. (See "Headache in children: Approach to evaluation and general management strategies", section on 'Worrisome findings'.)

Behavior changes – Affected patients often have changes in their personality and behavior. These may include irritability, obstreperousness (unruly or aggressive behavior), and/or indifference. The mechanism of the behavior changes is uncertain but is related, in part, to increased ICP.

Developmental delays – In infants and young children, psychomotor delay or gait dysfunction may occur. It is important to ask specific questions relevant to the child's age. For example, the inability to roll over in an eight-month-old may indicate secondary gross motor delay.

Nausea and vomiting – Increased ICP in the posterior fossa often leads to nausea, vomiting, and decreased appetite. The vomiting is often projectile and is caused by direct pressure effects upon the emesis center in the medulla oblongata.

Lethargy – As the hydrocephalus worsens, midbrain and brainstem dysfunction may result in lethargy and drowsiness.

EVALUATION — Children with suspected hydrocephalus should undergo a thorough evaluation with neuroimaging and a detailed physical examination, including funduscopy to evaluate for papilledema. If the diagnosis is uncertain after the initial evaluation, lumbar puncture with measurement of opening pressure can help determine if intracranial pressure (ICP) is elevated.

Clinical suspicion — Hydrocephalus should be suspected in an infant whose head circumference is enlarged at birth or in whom serial measurements cross percentiles in standard growth curves, indicating excessive head growth [7]. (See "The pediatric physical examination: General principles and standard measurements", section on 'Growth parameters'.)

In addition, hydrocephalus should be considered in children with severe headache and other features suggesting increased ICP (eg, persistent nausea/vomiting; altered mental status; ataxia, weakness, diplopia, or abnormal eye movements; severe and persistent headache; headache worsened in recumbent position or by cough, micturition, or defecation). (See "Headache in children: Approach to evaluation and general management strategies", section on 'Worrisome findings'.)

Physical examination — The physical findings of hydrocephalus are due mostly to the effects of increased ICP. A detailed physical examination should be performed, with particular focus on the following:

Vital signs – Distortion of the brainstem may result in changes in vital signs such as bradycardia, systemic hypertension, and altered respiratory rate.

Head – Effects of hydrocephalus on the head are most obvious in infants who develop hydrocephalus while the cranial sutures are still open.

Macrocephaly – Hydrocephalus is an important cause of macrocephaly in infants. Excessive head growth may be noted on serial measurements of head circumference plotted on growth curves. However, significant dilatation of the ventricles can occur before head growth becomes abnormal. The anterior fontanelle may become full or distended. The sutures feel more widely split due to an enlarging head circumference. There is an abnormal percussion note to the head when the sutures are spread (the "cracked pot" sound or Macewen sign) [8]. Note that the cranial sutures are functionally closed by the age of 24 months. (See "Macrocephaly in infants and children: Etiology and evaluation".)

Frontal bossing – Young infants may develop frontal bossing, an abnormal skull contour in which the forehead becomes prominent (picture 1).

Prominent scalp veins – The scalp veins may appear dilated and prominent (picture 1). This is sometimes noted by the parents and is mentioned in the history.

Neurologic examination – The approach to performing a detailed neurologic examination of infants and children is described separately. (See "Detailed neurologic assessment of infants and children" and "Neurologic examination of the newborn".)

Abnormal neurologic findings in children with hydrocephalus may include:

Spasticity – Stretching of the fibers from the motor cortex around the dilated ventricles may result in spasticity of the extremities, especially the legs.

Compression of the third or sixth cranial nerve may result in extraocular muscle paresis leading to diplopia. The family and caregivers may notice ocular deviation, droopy eyes, or head tilt.

Pressure on the midbrain may result in impairment of upward gaze. This is referred to as the "setting-sun" sign because of the appearance of the sclera visible above the iris (picture 2). It may be part of a larger constellation of neuro-ophthalmologic signs known as Parinaud syndrome (table 2). (See "Ocular gaze disorders", section on 'Parinaud syndrome'.)

Fundus – Funduscopic examination should be performed to evaluate for papilledema (picture 3A-B). Infants with open sutures are less likely to have papilledema compared with older children.

Spine – The spine of children should be carefully examined for stigmata suggestive of an acquired Chiari II malformation associated with spinal dysraphism, such as a pit located above the gluteal crease (picture 4), a palpable lumbar mass (suggestive of lipoma), or skin stigmata of spinal dysraphism (table 3). However, if the pit is located between the upper buttocks in the intergluteal cleft and if the coccyx is palpable, the lesion usually is benign and does not require imaging unless neurologic or urinary symptoms develop. (See "Closed spinal dysraphism: Pathogenesis and types".)

Growth and pubertal development – Accelerated pubertal development may result from pressure of the dilated third ventricle on the hypothalamus [9].

Syndromic features – Infants and children with suspected hydrocephalus should also be examined for associated congenital anomalies, including bilateral adducted thumbs (suggestive of X-linked hydrocephalus), ocular anomalies (suggestive of Walker-Warburg syndrome), and other syndromic features. (See "Hydrocephalus in children: Physiology, pathogenesis, and etiology", section on 'X-linked hydrocephalus' and "Hydrocephalus in children: Physiology, pathogenesis, and etiology", section on 'Syndromic forms'.)

Neuroimaging — The diagnosis of hydrocephalus is established with neuroimaging. The choice of initial imaging modality depends upon the age of the patient:

Antenatal imaging – Antenatal ultrasonography is an effective modality for detecting ventriculomegaly prenatally. Antenatal magnetic resonance imaging (MRI) of the fetus is becoming a more common practice and is often used to further evaluate ventricular abnormalities detected by ultrasonography. Ventriculomegaly is diagnosed if the ventricular atrium exceeds 10 mm at any gestational age [10]. The posterior portion of the lateral ventricles is normally larger than the anterior portion in the fetus, and the discrepancy becomes less marked as the fetus approaches term. This finding is often misinterpreted as hydrocephalus by clinicians lacking experience in fetal imaging. This configuration is only abnormal if it persists into postnatal life (a condition termed "colpocephaly") [11]. Prenatal diagnosis is discussed in greater detail separately. (See "Fetal cerebral ventriculomegaly" and "Neural tube defects: Prenatal sonographic diagnosis".)

Infants with prenatally diagnosed ventriculomegaly should undergo postnatal neuroimaging to elucidate the cause and degree of ventriculomegaly.

Newborns and young infants – In a newborn, ultrasonography is the preferred technique for the initial examination because it avoids ionizing radiation, does not require sedation/anesthesia, and is usually readily available and portable. However, limited imaging using ultrafast MRI also does not typically require sedation and is increasingly used as an alternative to ultrasonography in the evaluation of hydrocephalus in infants. Ultrasound is good for imaging the lateral ventricles but does not assess the posterior fossa well; the diagnostic accuracy of ultrasound also depends upon the expertise of the user. Infants found to have progressive ventriculomegaly on ultrasound should generally undergo additional imaging with MRI. As the anterior fontanelle closes, ultrasound is no longer a useful diagnostic modality.

Older infants and children – In older infants and children with suspected hydrocephalus, computed tomography (CT) or MRI should be performed. These imaging studies will also detect associated central nervous system malformations or tumors.

MRI is generally the imaging modality of choice for evaluating children with suspected hydrocephalus [12]. MRI provides superior visualization of pathologic processes in the cerebrospinal fluid (CSF) pathway, including CSF flow dynamics. T2-weighted imaging provides information regarding the CSF spaces and cisterns. CSF flow studies are performed using a variety of MRI techniques that are able to qualitatively assess and quantify pulsatile CSF flow. Specific sequences such as Turbo-spin echo (TSE), three-dimensional constructive interference in the steady state (3D-CISS), and cine phase contrast (cine PC) have gained wide acceptance in evaluating CSF flow and anatomy [13]. Infants and young children typically require sedation or anesthesia for MRI. However, limited imaging using ultrafast MRI techniques (eg, half-Fourier acquisition single-shot turbo spin echo [HASTE] or single-shot fast spin echo [SS-FSE] T2-weighted sequences) may provide sufficient data for the evaluation of the ventricular anatomy without requiring sedation.

CT provides far less information, but because it is fast, readily available, and usually can be accomplished without sedation, it is often the initial study performed, particularly in the acute setting when there are concerns for increased ICP of uncertain etiology and in settings where ultrafast MRI is unavailable. Disadvantages of CT scanning include radiation exposure [14]. Children who undergo CT as the initial study and are found to have hydrocephalus should generally undergo additional evaluation with MRI.

Lumbar puncture — For most cases of hydrocephalus, lumbar puncture (LP) is not necessary in the initial diagnostic evaluation. Furthermore, LP is contraindicated if the patient has evidence of a space-occupying lesion such as an intracranial tumor or a brain abscess because of the risk of cerebral herniation. Thus, neuroimaging should be performed prior to LP in an infant or child with hydrocephalus. In rare cases when there is clinical suspicion for an infection causing adhesive arachnoiditis or ependymitis, LP should be performed (after excluding significant cerebral edema, space-occupying lesion, or obstructive hydrocephalus by imaging in children with elevated intracranial pressure), and appropriate CSF studies should be performed. (See "Lumbar puncture in children" and "Bacterial meningitis in children older than one month: Clinical features and diagnosis", section on 'Lumbar puncture'.)

Measurement of intracranial pressure — In some cases (eg, if the MRI findings are subtle or uncertain), it may be helpful to directly assess whether intracranial pressure (ICP) is elevated. Procedures to measure ICP are performed by the neurosurgeon and may involve surgical placement of a ventricular or intraparenchymal pressure transducer or LP with measurement of opening pressure (provided there is no intracranial mass lesion). The opening pressure generally provides a good estimate of ICP; however, falsely elevated measurements may be obtained if the patient is uncomfortable during the procedure. The intraparenchymal transducer is more invasive but provides real-time data that can monitored hourly for a more accurate determination of ICP. This determination helps distinguish between hydrocephalus and benign external hydrocephalus (also called "benign extra-axial fluid of infancy") if the distinction cannot be made based on imaging and other clinical findings. Measurement of ICP can also occasionally help guide management decisions. (See "Hydrocephalus in children: Management and prognosis", section on 'Management'.)

DIAGNOSIS — The diagnosis of hydrocephalus is established with neuroimaging. Hydrocephalus is characterized by ventriculomegaly and evidence of increased intracranial pressure (ICP). It is distinct from conditions that cause ventriculomegaly without increased ICP. (See 'Mimics of hydrocephalus' below.)

Determination of elevated ICP — The determination of whether ICP is elevated is based on the clinical and radiographic findings. Radiographically, findings that suggest increased pressure include:

Enlargement of the recesses of the third ventricle

Dilation of the temporal horns of the lateral ventricle

Interstitial edema of the periventricular tissues (seen on T2-weighted or FLAIR [fluid-attenuated inversion recovery] magnetic resonance imaging (MRI) sequences)

Effacement of the cortical sulci

In uncertain cases, direct measurement of ICP (eg, with a surgically placed ventricular or intraparenchymal pressure transducer or via lumbar puncture with measurement of opening pressure) may be performed by the neurosurgeon. (See 'Measurement of intracranial pressure' above.)

Obstructive versus communicating hydrocephalus — Brain imaging can help to distinguish obstructive (noncommunicating) from absorptive (communicating) hydrocephalus. This distinction informs treatment decisions about shunting versus third ventriculostomy. (See "Hydrocephalus in children: Management and prognosis", section on 'Management'.)

Magnetic resonance cerebrospinal fluid (CSF) flow studies may demonstrate the site of obstruction (eg, aqueductal stenosis). Three-dimensional constructive interference in the steady state (3D-CISS) may uncover hidden obstruction sites in the ventricles or subarachnoid cistern. Transependymal flow, best seen on T2 or T2 FLAIR images, is indicative of increased ICP.

Obstructive hydrocephalus — The site of obstructed CSF flow may be suggested by the pattern of ventricular dilatation (see "Hydrocephalus in children: Physiology, pathogenesis, and etiology", section on 'Obstruction'):

Aqueductal stenosis (a common type of obstructive hydrocephalus) typically results in dilated lateral and third ventricles, whereas the fourth ventricle remains normal or smaller size (image 3 and image 4).

Obstruction at the body of the lateral ventricle causes dilation of the distal temporal horn and atrium (image 5).

Obstruction of one foramen of Monro causes dilatation of the lateral ventricle on that side (image 6).

Obstruction of outflow from the fourth ventricle causes dilation of all four ventricles, a radiographic appearance that is similar to communicating hydrocephalus (image 7); however, in some cases the cause of the structural blockage (eg, tumor) will be apparent on imaging, in which case the distinction is easy to make (image 8).

Communicating hydrocephalus – In neonates and infants, communicating hydrocephalus (ie, caused by impaired CSF absorption or, rarely, excessive CSF production) usually results in symmetric dilatation of all four ventricles (image 9). By contrast, impaired CSF absorption in older children and adults may cause idiopathic intracranial hypertension (pseudotumor cerebri) without ventricular dilatation because of reduced compliance of the brain tissue. (See "Idiopathic intracranial hypertension (pseudotumor cerebri): Clinical features and diagnosis".)

MIMICS OF HYDROCEPHALUS — Mimics of hydrocephalus include reduced brain volume (eg, cerebral atrophy), benign extra-axial fluid of infancy, and normal pressure hydrocephalus. These conditions are generally not associated with increased intracranial pressure (ICP).

Reduced brain volume — Ventriculomegaly may be observed in children with reduced brain volume due to cerebral atrophy or malformation ("hydrocephalus ex-vacuo") (image 1). The clinical setting and neuroimaging findings, such as small head size relative to the ventriculomegaly and lack of signs of increased intracranial pressure, help to distinguish hydrocephalus ex-vacuo from true hydrocephalus. The radiographic appearance may be similar to hydrocephalus; however, findings that suggest elevated ICP are absent.

Benign extra-axial fluid of infancy — In infants, hydrocephalus is distinguished from benign extra-axial fluid (also called "benign external hydrocephalus") based on the characteristic clinical and radiographic findings. Benign extra-axial fluid is characterized by enlargement of the subarachnoid space, predominantly in the frontal or frontoparietal regions (image 2). Ventriculomegaly is absent or mild. Clinically, infants with benign extra-axial fluid have macrocephaly but they are otherwise well-appearing and have normal development. The typical presentation is progressive increase in the head circumference with normal anterior fontanel. There is frequently a family history of macrocephaly. As the name implies, this entity is self-limited and affected infants usually do not require any intervention. (See "Macrocephaly in infants and children: Etiology and evaluation", section on 'Benign enlargement of the subarachnoid space'.)

Normal pressure hydrocephalus — In normal pressure hydrocephalus (NPH), the cerebral ventricles are pathologically enlarged, but the ICP is not elevated. NPH is most often seen in adults over the age of 60 years. NPH is discussed separately. (See "Normal pressure hydrocephalus".)

SOCIETY GUIDELINE LINKS — Links to society and government-sponsored guidelines from selected countries and regions around the world are provided separately. (See "Society guideline links: Pediatric hydrocephalus".)

INFORMATION FOR PATIENTS — UpToDate offers two types of patient education materials, "The Basics" and "Beyond the Basics." The Basics patient education pieces are written in plain language, at the 5th to 6th grade reading level, and they answer the four or five key questions a patient might have about a given condition. These articles are best for patients who want a general overview and who prefer short, easy-to-read materials. Beyond the Basics patient education pieces are longer, more sophisticated, and more detailed. These articles are written at the 10th to 12th grade reading level and are best for patients who want in-depth information and are comfortable with some medical jargon.

Here are the patient education articles that are relevant to this topic. We encourage you to print or email these topics to your patients. (You can also locate patient education articles on a variety of subjects by searching on "patient info" and the keyword[s] of interest.)

Basics topics (see "Patient education: Hydrocephalus in babies and children (The Basics)")

SUMMARY AND RECOMMENDATIONS

Hydrocephalus is a disorder in which an excessive amount of cerebrospinal fluid (CSF) accumulates within the cerebral ventricles and/or subarachnoid spaces, resulting in ventricular dilation and increased intracranial pressure (ICP). Hydrocephalus can be congenital or acquired; both categories include a diverse group of conditions (table 1). Most cases of hydrocephalus in children are due to structural blockage of CSF flow within the ventricular system (referred to as obstructive or noncommunicating hydrocephalus). Communicating hydrocephalus is less common and occurs when CSF accumulates because of impaired absorption or rarely because of excessive CSF production. (See 'Terminology' above and "Hydrocephalus in children: Physiology, pathogenesis, and etiology".)

The presentation of hydrocephalus depends upon the timing of onset relative to closure of cranial sutures, the duration and rate of rise in ICP, and the presence or absence of associated structural abnormalities. (See 'Clinical features' above.)

Common signs and symptoms of hydrocephalus include headaches, irritability, behavior changes, developmental delays, vomiting, and lethargy. (See 'Common signs and symptoms' above.)

Hydrocephalus should be suspected in an infant whose head circumference is enlarged at birth or in whom serial measurements cross percentiles in standard growth curves, indicating excessive head growth. In addition, hydrocephalus should be considered in children with severe headache and other features suggesting increased ICP (eg, persistent nausea/vomiting; altered mental status; ataxia, weakness, diplopia, or abnormal eye movements; severe and persistent headache; headache worsened in recumbent position or by cough, micturition, or defecation). (See 'Clinical suspicion' above.)

Children with suspected hydrocephalus should undergo a thorough evaluation with neuroimaging and a detailed physical examination, including funduscopy to evaluate for papilledema. (See 'Evaluation' above.)

The diagnosis of hydrocephalus is established with neuroimaging. Hydrocephalus is characterized by ventriculomegaly and evidence of increased ICP. Imaging can help to distinguish obstructive (noncommunicating) from absorptive (communicating) hydrocephalus. The site of obstructed CSF flow may be suggested by the pattern of ventricular dilatation. Communicating hydrocephalus usually results in symmetric dilatation of all four ventricles together with increased subarachnoid space (image 9). (See 'Diagnosis' above.)

Mimics of hydrocephalus include reduced brain volume (eg, cerebral atrophy (image 1)), benign extra-axial fluid of infancy (image 2), and normal pressure hydrocephalus. These conditions are generally not associated with increased ICP. (See 'Mimics of hydrocephalus' above.)

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