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74 Cards in this Set

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Trilobed configuration of the skull , as a result of premature closure of the cranial structures ,

Cloverleaf skull

associated with thantophoric dwarfism

Clover leaf skull

Other name for cloverleaf skull

Craniosynostsis

No brain tissues or cranium (bone)

Anencephaly

Caused by failure of closure of the neural tube at the cranial end

Anencephaly

What are completely absent for Anencephaly

Cerebral hemispheres and overlying skull

The most common neural tube defect

Anencephaly

What is present for Anencephaly

Brain stem , mid brain , skull base , facial structures

How lethal is Anencephaly

Very lethal disorder

High levels of what for Anencephaly

Alpha feto protein

Anencephaly is common in

Diabetics , white and women

Anencephaly is associated with

Spins bifida

Anencephaly is common in what region

United Kingdom

Ultrasound appearance of Anencephaly

Bulging of the fetal orbits giving the the fetus frog like appearance , polyhydraminos

Anencephaly can mimic

Microcephaly

Partial or complete absence of the cranial vault (no cranium) , brain tissue is always present , poor prognosis

Exencephaly

Other name for Exencephaly

Acrania

Gap in the skull

Cephalocele

Cephalocele can be divided into 3 things ...?

Meningocele


Encephalocele


Meningoencephalocele

(Cephalocele) herniation of only meninges (cystic)

Meningocele

(Cephalocele) herniation of the brain tissue and meninges

Encephalocele

Herniation of the brain tissue , meninges and CSF

Meningoencephalocele

Meckel gruber syndrome is associated with

Meningoencephalocele

Most common location for Cephalocele

Occipital , frontal , parietal

Ultrasound of Cephalocele

Mass extending from calvarium , cranial defect , may be totally cystic , cystic w/ septation . May contain brain matter

Most common location for Cephalocele

Occipital , frontal , parietal

Cephalocele is associated with (3)

Hydrocephalus (ventriculomegally ) , microcephaly , polyhydraminos

Rare lethal genetic disorder characterized by

Meckel syndrome / meckel -gruber syndrome

Meckel syndrome / meckel - gruber syndrome is associated with (5)

1.encephaolcele


2.IPKD


3.pulmonary hypoplasia


4.polydactyly


5. Oligohydraminos

Hfx

Jdt

Malformation is when there is a structural abnormality that results from unusual development

Arnold chiari malformation

Three forms of Holoprosencephaly

Alobar ,semilobar, lobar

VERY LETHAL, The most severe and most common form of Holoprosencephaly

Alobar Holoprosencephaly

Ultrasound appearance of Alobar Holoprosencephaly

Monoventricle , fused thalamus , |absence of the interhemispheric fissure , cavum septum pellucidum, corpus callosum , 3rd and 4th ventricle |

There is some separation of the cerebral hemispheres in the occipital area with but no separation occurs in the frontal region . Lethal

Semilobar Holoprosencephaly

Ultrasound appearance of semilobar Holoprosencephaly

Partial development of the falx cerebri, partial separation of the single ventricle into occipital and temporal horns , third ventricle is absent or small , the fourth ventricle brainstem and cerebellum is usually normal

Congenital brain malformation that is thought to be caused by a developmental deviation in the roof of the 4th ventricle

Arnold chiari malformation

Arnold chiari malformation is characterized by

Caudal displacement of the cerebellum , pons , medulla , and fourth ventricle into the upper cervical canal

Arnold chiari malformation is associated with

Spina bifida

Which lab value is going to increase with Arnold chiari malformation

AFP

Ultrasound appearance of Arnold chiari malformation

Cerebellum will appear as a banana shape , lemon sign for the head ( narrower portion of anterior portion of head due to decrease intracranial pressure ) , dilation of ventricles , myelomeningocele

Congenital brain malformation that is thought to be caused by a development deviation in the roof of the 4th ventricle and cerebellum

Dandy walker syndrome , dandy walker malformation , dandy walker cyst , dandy walker variant

Key features for Dandy walker syndrome , dandy walker malformation , dandy walker cyst , dandy walker variant (4)

Partial or complete cerebellar vermis , enlargement of fourth ventricle , cyst formation in posterior fossa , hydrocephalus

Agenesis of the corpus callosum , holoprosencephaly , and cephaloceles are all associated anomalies that can co exist with ?

Dandy walker syndrome , dandy walker malformation , dandy walker cyst , dandy walker variant

Failure of prosencephalon (forebrain of the embryo ) to divide to form bilateral cerebral hemispheres

Holoprosencephaly

Malformation is when there is a structural abnormality that results from unusual development

Arnold chiari malformation

Three forms of Holoprosencephaly

Alobar ,semilobar, lobar

VERY LETHAL, The most severe and most common form of Holoprosencephaly

Alobar Holoprosencephaly

Ultrasound appearance of Alobar Holoprosencephaly

Monoventricle , fused thalamus , |absence of the interhemispheric fissure , cavum septum pellucidum, corpus callosum , 3rd and 4th ventricle |

There is some separation of the cerebral hemispheres in the occipital area with but no separation occurs in the frontal region . Lethal

Semilobar Holoprosencephaly

Ultrasound appearance of semilobar Holoprosencephaly

Partial development of the falx cerebri, partial separation of the single ventricle into occipital and temporal horns , third ventricle is absent or small , the fourth ventricle brainstem and cerebellum is usually normal

How is the prognosis for Alobar and semilobar Holoprosencephaly

Bad prognosis

Nearly complete separation of cerebral hemispheres

Very. V v v v. Cv. V

Ultrasound appearance of lobar Holoprosencephaly

Lateral ventricle ,

Fyc

Tc

Congenital brain malformation that is thought to be caused by a developmental deviation in the roof of the 4th ventricle

Arnold chiari malformation

Arnold chiari malformation is characterized by

Caudal displacement of the cerebellum , pons , medulla , and fourth ventricle into the upper cervical canal

Arnold chiari malformation is associated with

Spina bifida

Which lab value is going to increase with Arnold chiari malformation

AFP

Ultrasound appearance of Arnold chiari malformation

Cerebellum will appear as a banana shape , lemon sign for the head ( narrower portion of anterior portion of head due to decrease intracranial pressure ) , dilation of ventricles , myelomeningocele

Congenital brain malformation that is thought to be caused by a development deviation in the roof of the 4th ventricle and cerebellum

Dandy walker syndrome , dandy walker malformation , dandy walker cyst , dandy walker variant

Key features for Dandy walker syndrome , dandy walker malformation , dandy walker cyst , dandy walker variant (4)

Partial or complete cerebellar vermis , enlargement of fourth ventricle , cyst formation in posterior fossa , hydrocephalus

Ultrasound appearance of lobar Holoprosencephaly

-Lateral ventricle are well formed posteriorly with separate occipital and temporal horns but fused in the frontal region


-septum cavum pellucidum is absent , not lethal but can cause severe mental retardation

Failure of development of midline structure , corpus callosum

Agenesis of the CC

When can Agenesis of the CC be diagnosed

Before 18 months

Ultrasound appearance of Agenesis of the CC

Sunburst manifestation of Sulci , or spoke wheel

Second ultrasound appearance of Agenesis of the CC

Colpoce

What is 2nd appearance with Agenesis of the CC

Colpocephaly , small frontal horns enlarged occipital horns , is often present as well and offers a distinct tear drop shape to the lateral ventricles

Third appearance of Agenesis of the CC

Third ventricle tends to migrate more superiorly and appear dilated , tear dropped shaped lateral ventricle

Agenesis of the CC is associated with what abnormality

Trisomies 13/18

What other three abnormalities is associated with Agenesis of the CC

Holoprosencephaly , facial cleft , dandy walker syndrome

Results from an obstruction, atresia or stenosis of the aqueduct of sylvius ( connects the 3rd-4th together )

Aqueductal stenosis

Most common cause of ventriculomegaly ?

Aqueductal stenosis

What ventricles get dilated

Dilation of all ventricles expect 4th