Congenital Disease

Question 1

% of craniosynostosis with raised ICP

Answer 1

10%

Question 2

Indication for craniosynostosis

Answer 2

Generally cosmesis only

Question 3

Most significant complication risk of craniostosis craniectomies/remodeling procedures

Answer 3

Blood loss requiring transfusions

Question 4

Treatment for positional plagiocephaly

Answer 4

Repositioning with/out helmet therapy

Question 5

% live birth with encephaloceles

Answer 5

1-4/10,000

Question 6

Encephalocele is more common in males or females?

Answer 6

Males

Question 7

Location (%) of encephalocele

Answer 7

80% cranial (occipital) 15% frontoethmoidal (sincipital) Others mainly basal

Question 8

Encephalocele is associated with what other diseases (5)?

Answer 8

Spina bifida Split cord Chiari II/III Klippel-Feil Dandy-Walker

Question 9

Treatment for encephalocele (occipital and sincipital)

Answer 9

Excision of sac/contents with watertight dural closure (intracranial and transnasal for basal) Also treat hydrocephalus if needed

Question 10

Chiari I vs II: age group

Answer 10

Chiari I: young adults Chiari II: infants

Question 11

% of population with Chiari I % of population with Chiari II

Answer 11

0.01% 1/3000 live births

Question 12

What % of Chiari I is associated with skeletal abnormalities?

Answer 12

25%

Question 13

Chiari I is associated with what skeletal abnormalities?

Answer 13

Basilar invagination Klippel-Feil Atlantoocipital fusion Cervical spina bifida Not brain abnormalities

Question 14

Chiari II is associated with what skeletal abnormalities?

Answer 14

CNS abnormalities Myelomeningocele in 100% Migrational abnormalities Hindbrain abnormalities Aqueductal stenosis Syringomyelia 50% Lacunar skull Incomplete C1 arch Low-lying tortilla

Question 15

% of hydrocephalus

Answer 15

Chiari I: 25% Chiari II: 90%

Question 16

What is the “treat from down” principle in Chiari?

Answer 16

Hydrocephalus Posterior fossa decompression Syringomyelia

Question 17

What % improve after posterior fossa decompression?

Answer 17

80% Syrinx often then resolves

Question 18

% live births with Dandy-Walker malformation

Answer 18

1-4/100,000 live births

Question 19

What % of Dandy-Walker is associated with other developmental anomalies?

Answer 19

2/3

Question 20

What % of Dandy-Walker is associated with hydrocephalus?

Answer 20

80

Question 21

Presentation of Dandy-Walker

Answer 21

Macrocephaly Cognitive impairment Incidental in mild form (mega cisterna magna)

Question 22

Survival and natural history of Dandy-Walker

Answer 22

100% survival with treatment 50% normal intelligence Ataxia, spasticity, fine motor impairment common

Question 23

Treatment for Dandy-Walker

Answer 23

Shunting of cyst

Question 24

Syringomyelia is associated with what diseases?

Answer 24

Chiari malformation Myelomeningocele Tumor Infection Trauma

Question 25

Presentation of syringomyelia

Answer 25

Central cord syndrome

Question 26

Treatment for syringomyelia

Answer 26

Craniocervical decompression for Chiari Syringoperitoneal/pleural/subarachnoid shunts and lysis of subarachnoid adhesions

Question 27

Natural history of syringomyelia

Answer 27

33% improve, 33% remain stable, 33% continue to deteriorate

Question 28

% population with spina bifida occulta

Answer 28

20-30% of North Americans

Question 29

What are the different types of dysraphism?

Answer 29

Question 30

Which is more common: myelomeningocele or meningocele?

Answer 30

Myelomeningocele (1/1000 live births)

Question 31

What are your chances of having another child with dysraphism if your previous child has one?

Answer 31

Increases to 2-3% risk with previously affected child

6-8% with 2 previously affected child

Question 32

What % of myelomeningocele have hydrocephalus?

Answer 32

75%

Question 33

What is mortality rate of myelomeningocele with and without treatment?

Answer 33

80% mortality without treatment
15% mortality with treatment

Question 34

Natural history (intelligence, ambulation, incontinence) for myelomeningocele?

Answer 34

80% normal intelligence
50% some degree of ambulation
10% continent of urine

Question 35

Treatment for myelomeningocele

Answer 35

Keep moist to prevent desiccation
Keep pressure off
Surgical repair within 36h (earlier closer reduces infection rate, no effect on neurologic recovery)
Prophylactic antibiotics if ruptured

Often needs VP shunt

Question 36

Presentation of tethered cord

Answer 36

Lower limb weakness and pain
Bladder dysfunction
Local cutaneous changes (tuft hair, nevus flammeus, dimple)
Cavovarus feet

Question 37

Treatment for tethered cord

Answer 37

Laminectomy and surgical detethering with/out lipoma resection
Often recurs as children grow

Question 38

What are the 2 types of split cord malformations?

Answer 38

Type I (Diastematomyelia): 2 hemicord in separate dural tubes separated by osteocartilaginous septum

Type II (Diplomyelia): 2 hemicords in same dural tube separated by fibrous septum

Question 39

Presentation of Diastematomyelia (Type I split cord)

Answer 39

Cutaneous changes
Foot deformities (tethered cord)
Present like tethered cord but can be older age at onset, mostly in lumbar spine

Question 40

Treatment for split cord malformations

Answer 40

Resection of septum, dura reconstituted as single tube if separate, detethering
Watertight closure (CSF leaks common)

Question 41

Presentation of dermal sinus tracts

Answer 41

Skin dimples
Hyperpigmentation
Hairy nevi
Capillary malformation

Typically either cosmetic or infection (can lead to meningitis)

Question 42

Treatment of dermal sinus tract

Answer 42

Resection down to spinal canal with closure of dura