Fetal brain pathology registry review

Question 1

Ventriculomegaly/hydrocephalus

Answer 1

Enlargement of the ventricles

Question 2

Most common brain abnormality

Answer 2

Ventriculomegaly

Question 3

Ventriculomegaly due to obstruction

Answer 3

Hydrocephaly

Question 4

Criteria for ventriculomegaly

Answer 4

Lateral ventricle >10mm at atrium and “dangling choroid” sign
*severe cases look for rim of cerebral tissue

Question 5

Aqueductal stenosis

Answer 5

Narrowing of cerebral aqueduct causing dilation of 3rd and lateral ventricle

Question 6

Most common cause of hydrocephalus

Answer 6

Aqueductal stenosis

Question 7

Criteria for aqueductal stenosis

Answer 7

Ventriculomegaly + dilated 3rd ventricle (circle in midline)

Question 8

Hydranencephaly

Answer 8

Cerebral tissue is replaced by fluid. No cerebral hemispheres only brain stem/basal ganglia present (fluid, no brain)
*no rim of cerebral tissue seen within cranium

Question 9

Holoprosencephaly

Answer 9

Varying degrees (3) of absence of midline and fusion of non midline brain structures starting anteriorly
*associated with midline facial defects
*strong associated with T13 (Patau)

Question 10

Hydr-

Answer 10

Fluid

Question 11

-Anencephaly

Answer 11

No brain

Question 12

Holo-

Answer 12

Whole/complete

Question 13

-Pro

Answer 13

Forebrain

Question 14

Lobar holoprosencephaly

Answer 14

Minimal fusion. Absent CSP/CC, fused frontal horns. Rest intact, “heart shaped” frontal horns

Question 15

Semilobar holoprosencephaly

Answer 15

Partial fusion lateral ventricle and thalami, partial falx, absent CSP/CC
*butterfly shaped LV

Question 16

Alobar holoprosencephaly

Answer 16

Most severe form, NO lobes = no midline separation of hemispheres
-Midline brain structures are absent (CC. CSP, 3rd vent, falx)
-Non midline brain structures are fused
-Horseshoe shaped monoventricle, fused thalami
*FATAL

Question 17

Dandy-Walker malformation

Answer 17

Absence or defect of the cerebellar vermis causing 4th ventricle to dilate and cisterna magna to enlarge

Question 18

Associations of dandy-walker malformation

Answer 18

Midline brain defects- agenesis of CC, holopros, ventriculomegaly, cephaloceles

Question 19

Criteria for dandy-walker malformation

Answer 19

Cisterna magna >10mm, dilated 4th ventricle, splayed cerebellar lobes
*key hole appearance

Question 20

Enlarged cisterna magna

Answer 20

> 10mm but no keyhole sign (normal 4th ventricle)

Question 21

Vein of galen aneurysm

Answer 21

Connection between an artery and vein, anechoic tubular mass midline brain with turbulent color flow patterns

Question 22

Agenesis of corpus collosum

Answer 22

If CSP is absent, CC is likely absent because they develop at the same time and are adjacent structures

Question 23

Anomalies associated with agenesis of corpus collosum

Answer 23

Holopros, DWM, T18, T13

Question 24

Criteria for agenesis of corpus collosum

Answer 24

Absent CSP, colpocephaly, sunburt/radial pattern sulci

Question 25

Colpocephaly

Answer 25

Splayed and teardrop shaped lateral ventricle

Question 26

Choroid plexus cyst

Answer 26

Frequently seen on routine sonos. Usually regress by 3rd trimester *soft marker for T18 (Edwards)

Question 27

Hydrocephaly fluid shape

Answer 27

Both sides with rim/dangling choroids

Question 28

Hydranencephaly fluid shape

Answer 28

Fluid filled cranium with no rim

Question 29

Alobar holoprosencephaly fluid shape

Answer 29

Horseshoe

Question 30

Semilobar holoprosencephaly

Answer 30

Butterfly

Question 31

Lobar holoprosencephaly

Answer 31

Heart frontal horns

Question 32

Dandy-walker malformation

Answer 32

Key-hole

Question 33

Vein of galen

Answer 33

Central tube with color

Question 34

Schizencephaly

Answer 34

Fluid filled clefts within cerebrum

Question 35

Porencephaly

Answer 35

Cyst that communicates with ventricular system caused by hemorrhage, ischemia, vascular occlusion

Question 36

Lissencephaly

Answer 36

"Smooth brain" No sulci/gyri within the cortex= agyria. Diagnosed 3rd trimester

Question 37

Teratoma

Answer 37

Most common intracranial tumor.