Achondroplasia

Achondroplasia - Head MRI

Radiological findings:

-Large cranial vault with small skull base.

-Prominent forehead with depressed nasal bridge.

-Narrowed foramen magnum.

-Cervico-medullary kink.

-Relative elevation of the brain stem give rise to a large supra-sellar cistern.

-Hydro-cephalus and surface CSF dilatation consistent with communicating hydrocephalus.

References
Kao SCS, et al. MR Imaging of the Craniovertebral Junction, Cranium and Brain in Children with Achondroplasia. AJR 153:565-569, 1989.
Achondroplasia, eMedicine June 2006

Hemimegalencephaly

Hemimegalencephaly
This is a hamartomatous overgrowth of a part or all of a cerebral hemisphere . There is an enlarged hemisphere with enlarged lateral ventricle (Figure ). Posterior falx and occipital lobes are usually displaced to the opposite side. Cortex may be thick, dysplastic or pachygyric. Heterotopias may be present. T2 images may show abnormal signal due to abnormalities of myelination, gliosis or calcification. It may be associated with hemimaxillary or hemimandibular overgrowth. It needs to be differentiated from hemiatrophy involving the contralateral side and hemimegalencephaly associated with tuberous sclerosis. In tuberous sclerosis, the other clinical and radiological findings of tuberous sclerosis are easily identifiable.
Figure : Hemimegalencephaly. A, T1 weighted axial spin echo image. B, Coronal FLAIR image. Note the enlarged right hemisphere with enlarged right lateral ventricle.

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Reference:The Internet Journal of Radiology™ ISSN: 1528-8404

Lissencephaly

Agyri-Packygyri
Agyri-Packygyri

Agyri-Pakygyri

Lissencephaly
Developing fetal brain normally appears smooth or “agyric” until 16th to 17th week of intrauterine life. Lissencephaly refers to absent or poor sulcation (Figure ). It can be complete (agyria) or incomplete (agyria-pachygyria). Type I lissencephaly shows the typical figure eight configuration of brain with colpocephaly, thickened cortex, smooth gray-white matter interface, flat broad gyri and shallow sylvian fissures. Type II lissencephaly on MR shows thickened cortex having polymicrogyric appearance . Type I lissencephaly is associated with Miller-Dieker syndrome while type II lissencephaly is associated with Walker-Warburg syndrome.
Figure : Lissencephaly. A, Type 1 lissencephaly showing shallow sylvian fissures, absence of gyri and thickened cortex (Arrow). B, Pachygyria. Note the thick cortex, sparse flat gyri and figure of eight appearance. C, This spin echo MR image shows pachygyric brain. Note the paucity of gyri affecting mainly the occipital regions (Arrows). Gyri are also sparse in right fronto-parietal region. Sylvian fissures are shallow.

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Reference:The Internet Journal of Radiology™ ISSN: 1528-8404

Radiopaedia.org.

Schizencephaly

Schizencephaly
Schizencephaly is a cerebrospinal fluid-filled cleft extending from the ependymal surface of the brain to the pia. It is lined by gray matter. Schizencephaly may be closed-lip (Figure A) or open-lip (Figure B) and it can be unilateral or bilateral (Figure C) . Closed-lip (type 1) schizencephaly is a thin, gray matter lined cleft in parenchyma. Usually the ventricular margin shows an outpouching at the site of closed-lip schizencephaly, acting as an important clue. Open-lip schizencephaly is a larger, gray matter lined, with obvious defect in ventricular margin. Closest differential of open-lip schizencephaly is porencephaly. But porencephalic cysts are lined by gliotic white matter in contrast to the gray matter lined schizencephaly. Associated findings may include heterotopias, absence of septum pellucidum, hippocampal abnormality, pituitary hypoplasia, callosal dysgenesis.
Figure : Schizencephaly. A, Unilateral closed-lip schizencephaly. Note the gray matter lining (Arrowhead) and a small outpouching (nipple) of the ventricular margin (Arrow). B, Large open-lip schizencephaly. The gray matter lining (Arrows) differentiates it from porencephalic cyst. C, Bilateral closed-lip schizencephaly.

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Reference:The Internet Journal of Radiology™ ISSN: 1528-8404

radiopaedia.org.

Heterotopic Grey Matter

Heterotopic Gray Matter
Heterotopic gray matter is caused by arrested migration of neurons from periventricular germinal zone to cortex. It can be inherited or acquired (maternal trauma, infection or toxin). It can be band-like (laminar) (Figure A) or nodular (Figure B). Nodular heterotopias can be focal or diffuse. Subependymal heterotopias are the most common, seen as nodules indenting the ventricles. Heterotopic gray matter is isodense with gray matter on CT and isointense with gray matter on MRI. Band heterotopias resemble double cortex, the inner heterotopic band may be thick or thin and continuous or discontinuous. Overlying cortex may be dysplastic or it may be normal, depending on the amount of heterotopic gray matter. Calcification is very rarely seen in the heterotopic gray matter.
Figure : Heterotopic Gray Matter. A, Axial MR image showing a band of heterotopic gray matter bilaterally (Arrows) with thin overlying cortex, giving an appearance of double cortex. B, Axial MR image showing subependymal nodular heterotopic gray matter (Arrows) lining both lateral ventricles.

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The Internet Journal of Radiology™ ISSN: 1528-8404

Holoprosencephaly

Holoprosencephaly
Regarding holoprosencephaly, the phrase “Face predicts brain” is apt. It is a spectrum of congenital structural forebrain anomalies and is the commonest malformation involving face and brain together. Its hallmark is monoventricle with non-cleaved frontal lobes. Also there is non-cleavage of diencephalon, and at times basal ganglia and thalami . Sylvian fissures are displaced anteriorly, resulting in increased sylvian angle (angle formed by lines drawn tangentially through the sylvian fissures). Radiography reveals hypotelorism and fused metopic suture.
It is a spectrum with three forms, alobar, semilobar and lobar . Alobar variety (Figure A), which is the most severe form, is characterized by monoventricle with “horseshoe” brain, fused thalami and basal ganglia, and absence of septum pellucidum, corpus callosum, falx cerebri and interhemispheric fissure, in association with severe craniofacial anomalies. In semilobar holoprosencephaly (Figure B) facial anomalies are variable, rudimentary occipital horns of lateral ventricles are present and falx is partially present. Lobar form, which is the least severe form, has squared-off frontal horns, well formed falx, separated thalami and only some anteroinferior fusion of hemispheres. Septum pellucidum is absent in all three forms. Holoprosencephaly may be associated with cyclops with ethmocephaly, dorsal brain cyst or olfactory nerve hypoplasia. Extracranial anomalies such as polydactyly, renal dysplasia, omphalocele and hydrops may be associated. Myelination may be delayed.
Figure : Holoprosencephaly. A, Axial CT image showing alobar holoprosencephaly. Note the fused thalami (Arrows), monoventricle with absence of septum pellucidum and absence of interhemispheric fissure and falx. B, Axial CT of semilobar holoprosencephaly. Note single large ventricle, absence of septum pellucidum and rudimentary interhemispheric fissure (Arrow).

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Reference:The Internet Journal of Radiology™ ISSN: 1528-8404

Rhombencephalosynapsis

Rhombencephalosynapsis

etiology:
Rhombencephalosynapsis consists of

- congenital fusion of cerebellar hemispheres, dentate nucleus and superior cerebellar peduncles .

-This is associated with vermian agenesis or hypogenesis. Rhombencephalosynapsis differs from Dandy-Walker malformation in that the anterior vermis is absent and posterior vermis is deficient .

-Transverse diameter of cerebellum is reduced.

-This may be accompanied by corpus callosal dysgenesis, aqueductal stenosis leadig to hydrocephalus, septo-optic dysplasia or holoprosencephaly.
Figure 10: Rhombencephalosynapsis. A, Sagittal T1 spin-echo image shows abnormal cerebellar vermis. B, Axial T2 spin-echo image shows continuity of the cerebral hemispheres across the midline without a midline cerebellar vermis. The cerebral hemispheres are abnormal, with reduced white matter and inward folding of the cortex as a result of ventriculoperitoneal shunting.

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Reference:The Internet Journal of Radiology™ ISSN: 1528-8404

Joubert Syndrome

Joubert Boltshauser Syndrome (Congenital Vermian Hypoplasia)
In this anomaly, there is inherited hypoplasia or aplasia of cerebellar vermis (Figure ). Fourth ventricle is enlarged and has a typical “bat-wing” or “umbrella” appearance. Isthmus (area of pontomesencephalic junction) is narrow. Midbrain has the typical “molar tooth” appearance 10, 11, 12. Associated abnormalities include holoprosencephaly, frontonasal dysplasia, pituitary hypoplasia. Abnormal signal may be noted in periventricular white matter. Renal cysts, hepatic fibrosis and cardiac anomalies may be associated, for which abdominal ultrasound may be advisable.
Figure : Joubert syndrome. A, Axial T1 weighted MR image. Fourth ventricle is enlarged and has a typical “umbrella” appearance (Arrow). B, Note the typical “molar tooth” appearance of midbrain (Black arrows), small vermis (Arrowhead) and narrow isthmus (White long arrow) on this T1 weighted image. C, Sagittal T1 image. Fourth ventricle is enlarged with vermian hypoplasia and abnormal folial pattern. Note that isthmus is abnormally narrow (Arrow).

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Reference:The Internet Journal of Radiology™ ISSN: 1528-8404

Dandy-Walker Complex

Dandy Walker Complex
Dandy Walker complex includes a continuum of Dandy Walker malformation, Dandy Walker variant and mega cisterna magna [8].
Dandy Walker Malformation
Most important imaging features of Dandy Walker malformation are large posterior fossa with a large cerebrospinal fluid (CSF) cyst and absence of normal fourth ventricle (Figure 6). Occipital bone appears scalloped and remodeled. There is torcular-lambdoid inversion that is, transverse sinuses and the confluence of sinuses lie above the lambdoid suture 1, 8, 9.
Sagittal MRI (Figure 6B) reveals that the floor of fourth ventricle is normal, but dorsally fourth ventricle opens into a large CSF filled cyst. Vermis is hypoplastic and is elevated over the cyst. Cerebellar hemispheres may be hypoplastic and anterolaterally displaced. Brainstem may be hypoplastic and compressed as well. Hydrocephalus is common, corpus callosum agenesis, heterotopias, schizencephaly, cerebellar dysplasias are also associated.
Main differential diagnosis of a posterior fossa cyst includes Dandy Walker continuum, posterior fossa arachnoid cyst, cystic neoplasms, dermoid, epidermoid and enterogenous cyst.
Figure : Dandy Walker Malformation: A, Axial CT image. Fourth ventricle (Arrow) dorsally opens into a large CSF filled cyst. Subtle remodeling of occipital bone is noted. Gross hydrocephalus is present (White dots). B, Sagittal T1 weighted image. The floor of fourth ventricle (Arrow) is normal, but dorsally fourth ventricle opens into a large CSF filled cyst (Arrowheads). Vermis (Curved arrow) is hypoplastic and is elevated over the cyst. Brainstem (Black dot) is hypoplastic and compressed. C, Axial T2 weighted MR image shows a large posterior fossa CSF intensity cyst with hypoplastic vermis and cerebellar hemispheres.

Dandy Walker Variant
In this anomaly, there is mild vermian hypoplasia with communication of posteroinferior fourth ventricle and cisterna magna through enlarged vallecula, causing a variable size cystic space (Figure 7). Posterior fossa is of normal size.
Figure : Dandy Walker Variant. A, Axial CT image. B, Axial T1 weighted MR image (Different cases). There is communication (Arrows) between posteroinferior fourth ventricle and cisterna magna through enlarged vallecula, with a posterior fossa cyst. Severe hydrocephalus is present in Figure 7A.






Mega Cisterna Magna
In this variant, fourth ventricle, vermis and cerebellar hemispheres are normal. Large cisterna magna is present. Occasionally scalloping of occipital bone is seen (Figure 8).
Figure : Axial CT image showing mega cisterna magna (Arrows). Fourth ventricle, vermis and cerebellar hemispheres are normal. Scalloping of occipital bone is seen (Arrowheads).



Reference:The Internet Journal of Radiology™ ISSN: 1528-8404

Lipoma

Lipoma
Intracranial lipomas are thought to be brain malformations rather than a true neoplasm. Half of these occur with various degrees of callosal dysgenesis. About 80 to 90 per cent of lipomas are seen in the midline. Lipomas may be callosal or cisternal (Figure ). Callosal lipomas may be anterior bulky tubulonodular which are usually associated with callosal dysgenesis, or they may be posterior ribbonlike curvilinear, which are seen with normal corpus callosum 1]. Lipomas have typical fat density (-50 to -100 Hounsefield Units) on CT. On MRI, lipoma appears hyperintense on T1 weighted image, intermediate signal on T2 weighted image and suppressed on fat-suppressed image.
Figure : Sagittal T1 weighted MR image. A lipoma which is very bright on T1 weighted image, is seen along superior border of cerebellar vermis (Arrowhead).

Reference:The Internet Journal of Radiology™ ISSN: 1528-8404

Corpus Callosal Anomalies

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Corpus Callosum Anomalies
Corpus callosum forms from anterior to posterior except for the rostrum, which is formed last. Callosal agenesis may be complete or partial. In partial agenesis, splenium and rostrum are the missing parts. In complete agenesis the entire corpus callosum and the cingulate sulcus and gyrus are absent.
Imaging of complete callosal agenesis (Figure 4) shows high riding third ventricle with spoke-like orientation of gyri around it. Lateral ventricles are widely separated, parallel and non-converging. Colpocephaly (dilated occipital horns) is commonly present and frontal horns may be small and pointed. Lateral ventricles are indented superomedially by the longitudinal white matter bundles (Probst bundles) 1].
Callosal anomalies are associated with other anomalies in 50 per cent of cases. These anomalies include Chiari malformations, heterotopias, lissencephaly, schizencephaly, Dandy-walker malformation, holoprosencephaly and lipomas 6. Association with Aicardi syndrome is reported 7.
Figure : Corpus callosum agenesis:

A, Axial CT scan of a patient with corpus callosum agenesis. Note the widely separated, parallel lateral ventricles with colpocephaly (Arrow). Left frontal horn is small and pointed (Curved arrow). Interdigitating gyri are seen (Arrowhead).

B, T1 weighted axial MR image shows classical widely separated, parallel lateral ventricles with colpocephaly. High riding third ventricle open superiorly to interhemispheric fissure is present (Arrow). There is presence of focal nodular heterotopia along lateral wall of frontal horn of left lateral ventricle (Arrowhead). C, Axial true inversion recovery image of a different patient. Prominent occipital horns (Arrows), high riding third ventricle (White dot), irregular interhemispheric fissure and heterotopias (Arrowheads) are visualized. Note that presence of heterotopias is better appreciated on this inversion recovery image.

D, Coronal T2 weighted image. Absence of corpus callosum is clearly visualized and third ventricle is open superior to interhemispheric fissure.

Reference:The Internet Journal of Radiology™ ISSN: 1528-8404

Chiari-Malformation

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Chiari Type 1 Malformation

Chiari Type 2 Malformation

Chiari Type 3 Malformation


Cephaloceles

Acrania

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Radiological findings:

-Abscense of the cranial bones with the presence of complete but abnormal cerebral hemispheres(acrania or exencephaly).

-If the brain was degenerated due exposure to amniotic fluid(anencephaly).

PHACES Syndrome

PHACE Syndrome
So this is a large segmental hemangioma of the face in association with this syndrome called PHACE or PHACES. What does the acronym stand for?

The p is for posterior fossa, most commonly Dandy-Walker malformation.

The a stands for cerebrovascular arterial anomalies.

The c stands for coarctation of the aorta or cardiac defects,

e for eye abnormalities,

and s for ventral developmental defects, mostly commonly sternal defects or a supraumbilical raphae. And really what I want you to remember is that large segmental facial hemangiomas can be associated with anomalies of the head, heart, or eyes.

Dysembryoplastic NeuroepithelialTumor(DNET

Contrast-enhanced CT
Proton DensityMRI

T1W MRI w/Gadolinium

Dysembryoplastic Neuroepithelial Tumor (DNET)

Dysembryoplastic Neuroepithelial Tumors (DNET) is a benign tumor arising from the cortical or deep gray matter. It is occasionally cystic and is most commonly located in the temporal (62%) and frontal lobes (31%). There is only one documented case of malignant transformation. The classic patient presentation is an individual less than 20 years old with medically refractory partial seizures without neurological deficit.

Imaging features:

CT - hypoattenuating mass that may occasionally have areas of calcifications. Remodeling of the adjacent inner table of the skull may occur.

MRI - cortical masses that are hypointense on T1-weighted images and hyperintense on T2-weighted images without surrounding vasogenic edema. DNETs tend to show a multicystic appearance more commonly than gangliogliomas.

DDx:
Dysembryoplastic Neuroepithelial Tumor (DNET)Astrocytoma

Ganglioglioma

Oligodendroglioma

or other low-grade neoplasms

Neurofibromatosis 2

Discussion:
Neurofibromatosis type 2-

One of the phakomatoses (neuroectodermal disorders with skin and CNS tumors; other of the more common phakomatoses include tuberous sclerosis, Von-hippel Lindau disease, Sturge-Weber

-Incidence 1:50,000 (much less common than NF-1)-Autosominal dominant inheritance via chromsome 22 defect

Diagnostic criteria:

-Bilateral vestibular schwanommas are diagnostic

-First degree relative with NF-2 plus unilateral vestibularschwanomma, meningioma, glioma, scwhanomma, neurofibroma

-Cutaneous manifestations are rare

Radiographic features:-~100% have cns tumors

-Bilateral vestibular schwanomma is diagnostic

-Other cranial nerve schwanommas-Meningiomas (can be multiple)

-Non-neoplastic intracranial calcifications (especially choroid plexus, but can also be cortical)

-Spinal cord schwanommas and ependymomas