Congenital Disease Flashcards
% of craniosynostosis with raised ICP
10%
Indication for craniosynostosis
Generally cosmesis only
Most significant complication risk of craniostosis craniectomies/remodeling procedures
Blood loss requiring transfusions
Treatment for positional plagiocephaly
Repositioning with/out helmet therapy
% live birth with encephaloceles
1-4/10,000
Encephalocele is more common in males or females?
Males
Location (%) of encephalocele
80% cranial (occipital) 15% frontoethmoidal (sincipital) Others mainly basal
Encephalocele is associated with what other diseases (5)?
Spina bifida Split cord Chiari II/III Klippel-Feil Dandy-Walker
Treatment for encephalocele (occipital and sincipital)
Excision of sac/contents with watertight dural closure (intracranial and transnasal for basal) Also treat hydrocephalus if needed
Chiari I vs II: age group
Chiari I: young adults Chiari II: infants
% of population with Chiari I % of population with Chiari II
0.01% 1/3000 live births
What % of Chiari I is associated with skeletal abnormalities?
25%
Chiari I is associated with what skeletal abnormalities?
Basilar invagination Klippel-Feil Atlantoocipital fusion Cervical spina bifida Not brain abnormalities
Chiari II is associated with what skeletal abnormalities?
CNS abnormalities Myelomeningocele in 100% Migrational abnormalities Hindbrain abnormalities Aqueductal stenosis Syringomyelia 50% Lacunar skull Incomplete C1 arch Low-lying tortilla
% of hydrocephalus
Chiari I: 25% Chiari II: 90%
What is the “treat from down” principle in Chiari?
Hydrocephalus Posterior fossa decompression Syringomyelia
What % improve after posterior fossa decompression?
80% Syrinx often then resolves
% live births with Dandy-Walker malformation
1-4/100,000 live births
What % of Dandy-Walker is associated with other developmental anomalies?
2/3
What % of Dandy-Walker is associated with hydrocephalus?
80
Presentation of Dandy-Walker
Macrocephaly Cognitive impairment Incidental in mild form (mega cisterna magna)
Survival and natural history of Dandy-Walker
100% survival with treatment 50% normal intelligence Ataxia, spasticity, fine motor impairment common
Treatment for Dandy-Walker
Shunting of cyst
Syringomyelia is associated with what diseases?
Chiari malformation Myelomeningocele Tumor Infection Trauma
Presentation of syringomyelia
Central cord syndrome
Treatment for syringomyelia
Craniocervical decompression for Chiari Syringoperitoneal/pleural/subarachnoid shunts and lysis of subarachnoid adhesions
Natural history of syringomyelia
33% improve, 33% remain stable, 33% continue to deteriorate
% population with spina bifida occulta
20-30% of North Americans
What are the different types of dysraphism?
Which is more common: myelomeningocele or meningocele?
Myelomeningocele (1/1000 live births)
What are your chances of having another child with dysraphism if your previous child has one?
Increases to 2-3% risk with previously affected child
6-8% with 2 previously affected child
What % of myelomeningocele have hydrocephalus?
75%
What is mortality rate of myelomeningocele with and without treatment?
80% mortality without treatment
15% mortality with treatment
Natural history (intelligence, ambulation, incontinence) for myelomeningocele?
80% normal intelligence
50% some degree of ambulation
10% continent of urine
Treatment for myelomeningocele
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
Presentation of tethered cord
Lower limb weakness and pain
Bladder dysfunction
Local cutaneous changes (tuft hair, nevus flammeus, dimple)
Cavovarus feet
Treatment for tethered cord
Laminectomy and surgical detethering with/out lipoma resection
Often recurs as children grow
What are the 2 types of split cord malformations?
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
Presentation of Diastematomyelia (Type I split cord)
Cutaneous changes Foot deformities (tethered cord) Present like tethered cord but can be older age at onset, mostly in lumbar spine
Treatment for split cord malformations
Resection of septum, dura reconstituted as single tube if separate, detethering Watertight closure (CSF leaks common)
Presentation of dermal sinus tracts
Skin dimples
Hyperpigmentation
Hairy nevi
Capillary malformation
Typically either cosmetic or infection (can lead to meningitis)
Treatment of dermal sinus tract
Resection down to spinal canal with closure of dura
