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Treatment. Physical, occupational, and speech therapy and perception training should be started as soon as possible. Botulinum toxin can be useful in the treatment of spasticity at certain sites (dynamic talipes equinus, leg adductors, arm flexors). Other measures: Orthopedic care, seeing and hearing aids, developmental support.

■ Hydrocephalus

Hydrocephalus is dilatation of the cerebral ventricles (p. 8) due to obstruction of CSF outflow (p. 162). Common etiologies include aqueductal stenosis, Dandy-Walker and Chiari malformations, infection (toxoplasmosis, bacterial ven-triculitis), hemorrhage, and obstructing tumors (colloid cyst of the third ventricle, midline tumors).

Symptoms and signs. If the cranial sutures have not yet fused, congenital obstructive hydro-cephalus produces an enlarged head (macro-cephaly) with a protruding forehead, the result of chronic intracranial hypertension. The head circumference should be measured regularly, as it is a more useful indicator of congenital hydro-cephalus than the clinical signs of intracranial hypertension (p. 158), which are often not very pronounced in infants and may be masked by irritability, failure to thrive, crying, and psycho-motor developmental delay. These signs include distended veins visible through the patient's thin scalp; bulging of the fontanelles, and vertical gaze palsy (the lower lid covers the open eye to the pupil, the upper lid reveals a portion of the sclera ^ "sunsetting"). Signs of intracranial hypertension are the most useful indicators of hydrocephalus once the cranial sutures have fused. A chronic form of hydrocephalus to be differentiated from NPH (p. 160) has been described as long-standing overt ven-triculomegaly in adults (LOVA hydrocephalus); symptoms include macrocephaly, headache, lightheadedness, gait disturbances, and bladder dysfunction.

Treatment. Acute hydrocephalus: There is a limited role for medical treatment (e. g., with carbonic anhydrase inhibitors and osmodiuretic agents); neurosurgical treatment is generally needed for CSF drainage (external drainage or surgical shunt) and/or the resection of an obstructing lesion.

■ Porencephaly

Porencephaly (from Greekporos, "opening"), the formation of a cyst or cavity in the brain, is usually due to infarction, hemorrhage, trauma, or infection. Porencephaly in the strict sense of the term involves a communication with the ventricular system. Porencephalic cysts are only rarely associated with intracranial hypertension. Large ones reflect extensive loss of brain tissue; the extreme case is termed hydranen-cephaly. Porencephaly may be asymptomatic or may be associated with focal signs (paresis, epileptic seizures).

■ Arachnoid Cysts

An arachnoid cyst is a developmental anomaly of the leptomeninges (p. 6), usually supraten-torial, and located either within the lepto-meningeal membranes or between the arachnoid and pia mater. Some arachnoid cysts communicate with the subarachnoid space. Many are asymptomatic, even when large. In rare cases, they can obstruct the CSF pathways (midline or infratentorial arachnoid cysts) or cause new or progressive signs and symptoms because of intracystic hemorrhage, cyst expansion (perhaps by a one-way valve mechanism), or cyst rupture. Symptomatic arachnoid cysts are treated neurosurgically by shunting, fenestration, or excision.

■ Agenesis of the Corpus Callosum

Hypoplasia or agenesis of the corpus callosum occurs as an isolated finding or in combination with other anomalies (Chiari malformation, het-erotopy, chromosomal anomaly, Aicardi syndrome ^ infantile spasms, micro-ophthalmia, chorioretinopathy, costovertebral anomalies). Isolated agenesis of the corpus callosum may be asymptomatic and is occasionally found incidentally on CT or MRI scans. Cystic deformities of the septum pellucidum (cavum septi pel-lucidi, cavum vergae) may obstruct the flow of CSF and cause intracranial hypertension.


Postural abnormalities, spasticity



Adduction position, skeletal deformity


Scans Axial View
CT scan (axial view)


Lateral ventricle (anterior horn)


Adduction position, skeletal deformity


Lateral ventricle (anterior horn)

Micro Decompression Occipital
MRI scan (coronal ^-weighted )

Arachnoid cyst-

Abnormal posture of foot

Cerebral palsy

(central right hemiparesis)

Arachnoid cyst-

Cerebral Subarachnoid Cyst
MRI scan (coronal Trweighted )

I Anomalies of the Craniocervical Junction


Symptoms and Signs




Usually asymptomatic

Flattening of the skull base

Plain radiograph/None

Occipitalization of C1

Usually asymptomatic; possible signs of medullary dysfunction

Synostosis of C1 with the occiput

Plain radiograph, CT, MRI/ Surgical decompression if symptomatic

Basilar impression

Occipitocervical pain; reduced neck flexibility. Long-term: impairment of gait, urinary retention, dysarthria, dysphagia, vertigo, nausea

Underdevelopment of the occipital bone causing "elevation" of cervical spine2

Plain radiograph, CT, MRI/ Usually symptomatic; medullary symptoms o neurosurgical treatment

Klippel-Feil syndrome3

Short neck, abnormal head posture, high shoulders, headache, radicular symptoms in arm; possible spinal cord compression

Fused cervical vertebrae

Same as above/ Treatment depends on signs and symptoms

1 Angle between root of nose and clivus > 145°. 2 Congenital (Chiari malformation), acquired (Paget disease, osteomalacia). 3 Additional malformations such as syringomyelia, spina bifida, cleft palate, or syndactyly may be present.

■ Spinal Dysraphism (Neural Tube Defects)

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