Malformations Flashcards
Defect in vertebral arch where spinal cord, meninges, and skin remain intact
Spina bifida occulta
NTD defect in dura mater of spinal cord
Spina bifida cystica
Spina bifida cystica where meninges are protruded, but nerves are intact
Meningocele
Spina bifida cystica where portion of the spinal cord is included in the herniated tissue
Myelomeningocele
Total or partial absence of skull and brain associated with polyhydramnios
Anencephaly
Protrusion of brain tissue via an opening in the skull
Encephalocele
Birth defect associated with maternal reduced MTHFR activity
NTD
Chromosomal aberrations associated with NTDs
Trisomy 13
Trisomy 18
Maternal conditions associated with NTD
DM
Obesity
Hyperthermia in first trimester
Decreased alpha-fetoprotein, increased beta-hCG, decreased estriol (uE3) and increased dimeric inhibin A (DIA)
Trisomy 21
Decreased alpha-fetoprotein, beta-hCG, and estriol. Normal or decreased DIA.
Trisomy 18 (Edward)
Increased alpha-fetoprotein. Normal beta-hCG, estriol, and DIA.
NTD or abdominal wall defect
Defect in brain patterning that results in incomplete separation of cerebral hemispheres with absent olfactory bulbs/tracts
Holoprosencephaly
Midline facial cleft, cyclopia, and nasal abnormalities due to defect in SHH
Holoprosencephaly
Genetic abnormality associated with holoprosencephaly
Trisomy 13
Collections of neurons in inappropriate locations along the pathway of migration
Neuronal heterotopias
Numerous, small gyri with excessively folded cortical ribbon with fused mini-gyri
Polymicrogyria
Smooth brain, reduced or absent gyri
Lessencephaly
Caudal displacement of cerebellar tonsils that is associated with syringomyelia
Arnold-Chiari type 1
Enlarged central gray area of spinal cord on adjacent neurons
Syringomyelia
Small posterior fossa with descended brainstem and cerebellar tonsils that is symptomatic in neonates
Arnold-Chiari type 2
Other conditions associated with Arnold-Chiari type 2
Hydrocephalus
Lumbosacral myelomeningocele
Possibly aqueduct stenosis
Failure of foramina of Luschka and Magendie to open, cystic dilatation of 4th ventricle, enlarged posterior fossa, and agenesis of cerebellar vermis
Dandy-Walker malformation
Gene mutations associated with Dandy-Walker malformation
Trisomy 18 (often)
Trisomy 13
Trisomy 21
Mechanism of FAS
Failure of cell migration
Child that presents with growth delay, cognitive delay, and facial anomalies that may be accompanied by congenital heart defects
Fetal alcohol syndrome
Most severe form of FAS
Holoprosencephaly
Grade 1 germinal matrix hemorrhage
Limited to germinal matrix, mainly overlying the caudal nucleus
Grade 2 germinal hemorrhage
Large hemorrhage rupture into ventricle (IVH)
Immature fragile capillary bed with poor stromal support that is prone to rupture from hypoxia
Germinal matrix hemorrhage
Grade 3 germinal matrix hemorrhage
IVH associated with hydrocephalus, communicating or non-communicating
Grade 4 germinal matrix hemorrhage
Intraventricular rupture and extension of hemorrhage into the periventricular white matter
Most important cause of periventricular leukomalacia
Ischemia
Bilateral damage to white matter during periods of hypotension in premature and perinatal brain, with vascular congestion in the acute stage
Periventricular leukomalacia
Chalky-white, cystic cavities around the ventricle from prior ischemic lesions
Periventricular leukomalacia
Permanent, non-progressive brain damage that occurs during the prenatal, perinatal, or toddler period (<3 yo)
Cerebral palsy
Spastic cerebral palsy
UMN lesions
Hypertonia –> scissor gait
Dyskinetic/athetoid cerebral palsy
Damage to basal ganglia
Dystonia
Chorea
Ataxic cerebral palsy
Damage to cerebellum
Shaky and uncontrolled movements
Dysphagia and dysarthria in cerebral palsy
Pseudobulbar involvement
