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BRAIN. CONGENITAL. BRAIN CONGENITAL. Agenesis of the Corpus Callosum Arachnoid Cyst Craniosynostosis Dandy-Walker Syndrome Encephalocele Hydrocephalus Neurofibromatosis (NF1) Tuberous Sclerosis. AGENESIS OF THE CORPUS CALLOSUM. Description.

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brain congenital
  • Agenesis of the Corpus Callosum
  • Arachnoid Cyst
  • Craniosynostosis
  • Dandy-Walker Syndrome
  • Encephalocele
  • Hydrocephalus
  • Neurofibromatosis (NF1)
  • Tuberous Sclerosis
  • A partial or complete absence of the corpus callosum.
  • Agenesis of the corpus callosum is caused by an insult that has occurred prior to the 10th week of gestation.
Epidemiology :
  • Anomalies (agenesis) of corpus callosum occur between 10 and 18 weeks of gestation. Males and females are equally affected.
signs and symptoms
Signs and Symptoms :
  • Patients may present asymptomatic; however, in many cases there are developmental abnormalities present.
imaging characteristics
Imaging Characteristics:
  • CT and MRI demonstrate an elevated third ventricle, noticeable separation of the lateral ventricles, partial or complete absences of the corpus callosum, and dysplasia of the cerebellum.
  • There is no treatment for this condition; however, conditions such as hydrocephalus may require treatment.
  • Depends on other extenuating circumstances that may be related to other developmental abnormalities.
figure 1 agenesis of the corpus callosum
Figure 1. Agenesis of the Corpus Callosum.

Coronal T2W image shows agenesis of the corpus callosum with widely spaced lateral ventricle with continuity of third ventricle with the interhemispheric fissure.

figure 2 agenesis of the corpus callosum
Figure 2. Agenesis of the Corpus Callosum.

Axial CT (A) and axial T1W MR (B) show enlarged parallel lateral ventricles with a “race car” configuration and no corpus callosum.

figure 3 agenesis of the corpus callosum
Figure 3. Agenesis of the Corpus Callosum.

Sagittal T1W image shows congenital absence of the corpus callosum with radially oriented gyri and the absence of the cingulategyrus.

  • Arachnoid cysts are benign cerebrospinal fluid filled sacs which may be located in relationship to the arachnoid membrane. They do not communicate with ventricular system.
  • They are usually congenital; however, they may result from a posttraumatic or post-surgical event.
Epidemiology :
  • They make up about 1% of all intracranial masses. Approximately 50% to 60% occur in the middle fossa. Males are four times more likely than females to have an arachnoid cyst.
signs and symptoms1
Signs and Symptoms :
  • Depending on the size and location of the cyst, they may go undetected. Large cysts may cause headaches, impairment of vision, seizure, increased collection of CSF, increased intracranial pressure (ICP), delay in mental and physician development, and altered behavior.
imaging characteristics1
Imaging Characteristics:

MRI and CT

  • Extraaxial benign-appearing CSF-filled cystic mass.
  • Most common supratentorial locations include:

(1) middle cranial fossa;

(2) parasellar cisterns; and

(3) subarachnoid space over the convexities.

  • Surgery is used to relieve symptoms. A shunt may be used to reduce the ICP by draining the CSF into the peritoneum.
  • Good, arachnoid cysts are benign and treatable.
figure 1 arachnoid cyst
Figure 1. Arachnoid Cyst..

Axial NECT shows a CSF density well circumscribed extraaxial fluid collection in the left middle cranial fossa with posterior

displacement of the left temporal lobe.

figure 2 arachnoid cyst
Figure 2. Arachnoid Cyst..

Axial T2W (A) and T1W C+ (B) images follow the signal

characteristics of the CSF.

  • Craniosynostosis is a congenital condition in which one or more of the cranial sutures fuse prematurely. The three most common types are:

(1) scaphocephaly (sagittal) the most

common type;

(2) plagiocephaly; and

(3) trionocephaly.

  • Unknown.
Epidemiology :
  • Occurs in 1 out of 2,000 live births. Males are affected twice more often than females.
signs and symptoms2
Signs and Symptoms :
  • An absence of the “soft spot” (fontanelle), a hard ridge along the affected suture, unusual head shape, or abnormal head size may be indicators for this condition. An increase in the intracranial pressure (ICP) may occur.
imaging characteristics2
Imaging Characteristics:


  • Three-dimensional imaging is beneficial to see bony detail.
  • Bone windows show fusion of sutures.


  • Useful for long-term follow-up.
  • Craniofacial surgery may be required.
  • Depends on the degree of this congenital condition.
figure 1 craniosynostosis
Figure 1. Craniosynostosis.

Axial NECT shows elongation of the calvarium in the antero-posterior dimension and narrowing in the transverse dimension.

figure 2 craniosynostosis
Figure 2. Craniosynostosis.

Coronal NECT shows premature complete fusion of the sagittal suture.

figure 3 craniosynostosis
Figure 3. Craniosynostosis.

Lateral 3D reconstructed image (A) and above view (B) image of the skull shows complete fusion of the sagittal suture and elongation of the skull in AP dimension..

  • Dandy-Walker Syndrome is a noncommunicating type of hydrocephalus, results from a partial dysgenesis of the vermis and a remnant fourth ventricle that communicates with a retrocerebellar cyst that is also known as a Blake pouch (see the section Hydrocephalus).
  • An atresia of the foramen of Magendie and foramina of Luschka of the fourth ventricle.
Epidemiology :
  • Represents approximately 2% of all cases of hydrocephalus. Occurs in 1 per 25,000 and 30,000 births and is usually diagnosed by 1 year of age. Males and females are equally affected. Associated with hydrocephalus in 80% of cases and agenesis of the corpus callosum in 20% of the cases.
signs and symptoms3
Signs and Symptoms :
  • Related to hydrocephalus and other associated anomalies.
imaging characteristics3
Imaging Characteristics:

Appears as a massively dilated fourth ventricle expanding into the posterior fossa demonstrating hydrocephalus. Both CT and MRI images demonstrate a massively dilated fourth ventricle, expanded posterior fossa with an inferior hypoplasticvermis.



  • Hypodense CSF-filled space located in the posterior fossa involving the fourth ventricle.


  • Hypointense on T1-weighted images.
  • Hyperintense on T2-weighted images.
  • Surgical intervention and shunting the excess CSF into the right atrium or the peritoneum cavity.
  • Depends on other neurologic complications; however, surgical intervention and shunting the excess CSF into the right atrium or into the peritoneal cavity will control the Dandy-Walker syndrome.
figure 1 dandy walker syndrome
Figure 1. Dandy-Walker Syndrome.

Axial NECT shows a large posterior fossa with a CSF density cyst, hypoplasticcerebellar hemispheres, and absence of the vermis.

figure 2 dandy walker syndrome
Figure 2. Dandy-Walker Syndrome.

Sagittal T1W image shows a massively dilated fourth ventricle, expanded posterior fossa, high-riding torcula, and hypoplastic cerebellum.

figure 3 dandy walker syndrome
Figure 3. Dandy-Walker Syndrome.

Axial T2W (A) and coronal T1W (B) show absence of the cerebellarvermis.

  • Encephaloceles result form a herniation of the brain or meninges, or both, through a skull defect. The hernia may be a small CSF-filled meningeal sac or a large cyst-like structure that may exceed the size of the head. It may be covered with skin and/or membrane of varying thickness, and may contain the pons, midbrain, and vermis structures. The herniated portion of the brain is nonfunctioning.
  • Results from a congenital defect or a trauma opening in the skull.
Epidemiology :
  • Newborns are mostly affected. Encephaloceles account for 10% to 20% of craniospinal malformations. The incidence rate is approximately 1 to 3 per 10,000. The skull defect is commonly found in the occipital region (71%), parietal region (10%), and throughout the skull base (18%).
signs and symptoms4
Signs and Symptoms :
  • Patients may present with hydrocephalus, developmental delay, motor weakness and/or spasticity, ataxia, mental retardation, microcephaly, seizures, and visual problems.
imaging characteristics4
Imaging Characteristics:


  • Osseous defect is best evaluated with CT.


  • Provides excellent delineation of the CSF and soft tissue brain components of the encephalocele.
  • In cases involving hydrocephalus, shunting CSF from the brain may be necessary.
  • The prognosis of fetuses with an encephalocele is variable depending on the presence of brain in the sac, hydrocephalus, and microcephaly. With brain involvement the prognosis may be quite poor.
figure 1 encephalocele
Figure 1. Encephalocele.

Axial NECT shows a small amount of brain protruding posteriorly through a midline defect in the occipital bone.

figure 2 encephalocele
Figure 2. Encephalocele.

Axial T1W (A) and T2W (B) images showing herniation of the brain through a defect in the posterior skull.

  • Hydrocephalus is an enlargement of the ventricular system of the brain also known in layman terms as “water on the brain”. There are two types of hydrocephalus; noncommunicating and communicating. Hydrocephalus may result from an excessive amount of cerebral spinal fluid production, inadequate reabsorption of CSF, or an obstruction of the flow of the CSF from one or more of the ventricles.

In the noncommunicating type of hydrocephalus, the flow of the cerebral spinal fluid (CSF) from the ventricular system into the subarachnoid space is obstructed by a mass-occupying lesion, congenital narrowing of the aqueduct of Sylvius, or associated with a meningomyelocele.

The communicating type of hydrocephalus may result from an overproduction of CSF in the choroid plexus, or inadequate reabsorption of CSF by the arachnoidvilli.



  • In the Dandy-Walker syndrome, an atresia of the foramen of Magendie results in an enlarge fourth ventricle.
  • Normal-pressure hydrocephalus typically affects adults with progressive dementia.
  • Hydrocephalus may result from:

(1) an excessive amount of CSF


(2) inadequate reabsorption of CSF by the

arachnoidvilli; or

(3) an obstruction of the outflow of the

CSF from one or more of the ventricles.

Epidemiology :
  • This congenital defect may also be associated with a history of meningomyelocele.
signs and symptoms5
Signs and Symptoms :
  • Patient may present with increase in the circumference of the head, behavioral changes such as irritability and lethargy, seizures and vomiting, or a change in appetite.
imaging characteristics5
Imaging Characteristics:
  • MRI is the better modality for the evaluation of hydrocephalus.


  • Noncontrast study demonstrates enlarged ventricles (hypodense).


  • T1-weighted images demonstrate the enlarged CSF-filled ventricles as hypointense.
  • T1-weighted contrast-enhanced sequence should be performed to rule out intracranial mass if indicated.
  • T2-weighted images demonstrate the enlarged CSF-filled ventricles as hyperintense.
  • Shunting the excess CSF into the right atrium or into the peritoneum cavity.
  • Good, following shunting procedure.
figure 1 hydrocephalus
Figure 1. Hydrocephalus.

T1-weighted axial MRI shows markedly dilated lateral ventricles with low-signal CSF.

figure 2 hydrocephalus
Figure 2. Hydrocephalus.

T2-weighted axial MRI shows high-signal CSF of the markedly dilated ventricles.

figure 3 hydrocephalus
Figure 3. Hydrocephalus.

Axial NECT shows markedly dilated lateral ventricles.

figure 4 hydrocephalus
Figure 4. Hydrocephalus.

T2W axial image shows high-signal CSF within markedly dilated lateral ventricles as a result of a shunt malfunction (fluid leaking around shunt in right parieto-occipital soft tissue).

  • Neurofibromatosis type 1 (NF1) is a multisystem generic disorder which cause tumors (neurofibromas) to grow in the nervous system.
  • Hereditary.
Epidemiology :
  • The incidence of NF1 is 1 in 2,500 to 4,000 individuals.
signs and symptoms6
Signs and Symptoms :
  • The following are diagnostic findings for NF1.
      • Six or more café-au-lait spots (light brown spots) on the skin measuring 5 mm in diameter in children or more than 15 mm in adolescents and adults.
      • Two or more neurofibromas.
      • Freckling in the area of the armpit or groin.
      • Familiar history of NF1.
imaging characteristics6
Imaging Characteristics:
  • MRI is the imaging modality of choice.


  • Bony erosion may be seen.
  • Hydrocephalus may be seen.
  • Calcification, especially at the vertex, may be seen.
  • Demonstrate solid fusiform and plexiformneurofibromas with attenuation values of 30 to 40 HU.
  • Good to evaluate the chest, abdomen, and pelvis of NF1 patients.


  • Intracranial nerve sheath tumors are isointense to brain tissue on T1-weighted and hyperintense on T2-weighted images.
  • Tumors appear with a smooth margin.
  • Enhance with gadolinium.
  • Optic gliomas, most common intracranial tumor for NH1; other gliomas may be seen in other parts of the brain.
  • Large tumors may be heterogeneous.
  • Surgery as needed.
  • Patient usually lives a healthy life; however, overall life expectancy may be reduced by as much as 15 years mostly due to malignant tumors.
figure 1 neurofibromatosis nf1
Figure 1. Neurofibromatosis (NF1)

Axial NECT shows a soft tissue density infiltrative mass of the right orbit with moderate exophthalmos.

figure 2 neurofibromatosis nf1
Figure 2. Neurofibromatosis (NF1)

Coronal T1W image (A) shows low-signal-intensity mass within the right orbit which is bright on T2W images (B) consistent with a plexiformneurofibroma.