Congenital anomalies

Question 1

What other anomaly accompaniessepto-optic dysplasia in 50% of cases?

Answer 1

Schizencephaly

Question 2

Agenesis of the corpus callosum how frequent?

Answer 2

0.7% of all births

Question 3

Polymicorgyria is occasionally associated with what MSK syndrome?

Answer 3

muscular dystrophy

Question 4

Partial or completely absent septum pellucidum?

Answer 4

Septo-optic Dysplasia (De Morsier Syndrome)

Question 5

Grey matter in the wrong spot (i.e. along vetricles)?

Answer 5

Heterotopia

Question 6

Dandy-Walker malformation?

Answer 6

Classically, the Dandy-Walker malformation is described as partial or complete absence of the vermis, dilation of the fourth ventricle into a large cystic mass in an enlarged posterior fossa, hydrocephalus, and torcular-lambdoid inversion (elevation of the torcular above the lambdoid suture)

Question 7

Top two differentials for Dandy-Walker malformation?

Answer 7

arachnoid cyst, giant cisterna magna

Question 8

Associations with Dandy-Walker?

Answer 8

Heterotopias and callosal dysgenesis occur in about 20% of cases of Dandy-Walker variant. have a high incidence (68%) of other syndromes.
Dandy-Walker syndrome is the most common CNS anomaly associated with PHACES syndrome (posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects, eye abnormalities,and sternal defects).

Question 9

Joubert syndrome?

Answer 9

The imaging findings in Joubert syndrome are virtually pathognomonic. One sees parallel, enlarged, horizontally oriented superior cerebellar peduncles, which, coupled with the elongated pontine-midbrain junction, have the appearance of a molar tooth. Variable degree of cerebellar vermal agenesis.

Question 10

Chiari 2?

Answer 10

affect girls twice as often as boys
The cerebellar tonsils, vermis, fourth ventricle, and brain stem are herniated through the foramen magnum.
Associated complete agenesis of the corpus callosum occurs in one third of cases, and partial abnormalities
occur in 75% to 90%, predominantly affecting the splenium.
A tethered cord with a lumbosacral myelocele (Fig. 9-35) or meningomyelocele protruding through the skin is seen in nearly all patients with Chiari II malformations.

Question 11

Dolichocephaly

Answer 11

Sagittal suture fusion

Question 12

Brachycephaly

Answer 12

Coronal suture fusion

Question 13

Turricephaly

Answer 13

Lambdoid suture fusion

Question 14

Plagiocephaly

Answer 14

Any unilateral suture fusion

Question 15

Two findings present in up to 100% with tuberous sclerosis?

Answer 15

angiomyolipomas of the kidney (50% to 90%)
periventricular subependymal nodules (candle gutterings) (90% to 100%), cortical and subcortical peripheral tubers (94% of patients on MR),

Question 16

Sturge-Weber syndrome AKA?

Answer 16

encephalotrigeminal angiomatosis)

Question 17

Cutaneous manifestation of Sturge-Weber?

Answer 17

cutaneous vascular nevus in the face, usually in the V-1

distribution

Question 18

The classic description is a highly vascular, enhancing mural nodule associated with a predominantly cystic mass in the lateral cerebellum, is for what?

Answer 18

hemangioblastoma of Von Hippel Lindau

Twenty percent of patients with hemangioblastomas of the cerebellum have VHL. Cerebellar hemangioblastomas ultimately develop in 83% of patients with VHL.

Question 19

Hereditary Hemorrhagic Telangiectasia AKA and main feature?

Answer 19

Osler-Weber-Rendu

AVM’s