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55 Cards in this Set

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CNS MALFORMATIONS - WILSON - FRIDAY JAN 26
what is the most common CNS malformation type, and what do they result from?
neural tube defects - failure of neural tube to close
what are the two most common forms of NTDs?
1) spina bifida; 2) anencephaly
what is the incidence of these defects (considered together)?
1 in 1000 (4000 fetuses annually in the US)
what fraction are aborted (either spontaneously or electively)?
one third
what is an antenatal screening test for NTDs?
elevated AFP in maternal serum
what is a risk factor for NTDs?
folate deficiency during initial weeks of gestation
at what point in gestation is the neural tube closed?
28 days into gestation
what is the most common congenital malformation of the brain?
anencephaly
SPINA BIFIDA
what is the most frequent site for spina bifida?
lumbosacral region
what is the mildest form of spina bifida called?
spina bifida occulta
what is the defect like, and where?
vertebral defect (non-closed vertebral arches) without an externally visible cystic lesion on the back - variable and often asymptomatic
what sign is frequently present on the skin?
overlying cutaneous stigmata (e.g. hypertrichosis / skin dimple or sinus / lipoma / capillary nevus)
what other associated defects may there be (3)?
1) sacral; 2) anorectal; 3) urogenital
what form is a step up in severity from spina bifida occulta, and what is it characterized by?
spina bifida cystica - vertebral defect combined with a cystic lesion on the back
what types of spina bifida cystica are there (2)?
1) meningocele; 2) myelomeningocele
what is a meningocele?
protrusion (herniation) of the meninges through a vertebral defect
what happens to the spinal cord in a meningocele?
it remains in normal position in the vertebral canal
what is a myelomeningocele (the most severe form of spina bifida)?
protrusion (herniation) of both meninges and spinal cord through a vertebral defect
what is a myelomeningocele almost invariably associated with?
Arnold-Chiari type II malformation
what are the essential components of this malformation (2)?
1) elongation of the inferior vermis and brain stem associated with their displacement into the cervical spinal canal; 2) hydrocephalus (usually)
what % of infants with spina bifida survive past one year?
>90%
what is a common complication of spina bifida?
progressive deterioration secondary to various medical complications
what % have other congenital anomalies?
20%
what severe, life long disabilities are usual (4)?
1) paraplegia; 2) incontinence; 3) recurrent/chronic infection (meningitis; 4) learning disabilities
ANENCEPHALY
what is anencephaly, and what does it result from?
absence of cerebrum and calvarium resulting from nicomplete closure of the anterior neural tube
what is the rate per 1000 live births for anencephaly?
1 to 5
what happens to those affected?
stillborn or early death
PERINATAL BRAIN INJURY
what is the msot common neonatal intracranial hemorrhage?
intraventricular hemorrhage
what type of infants are most susceptible?
preterm infants (full term infants can get it too)
what is the most frequent origin of IVH?
periventricular germinal matrix (subependymal germinal matrix)
how long does this matrix persist?
34 weeks
what type of activity and circulation was this matrix said to have?
fragile microcirculation, high fibrinolytic activity
what is the usual area of matrix to hemorrhage?
ventrolateral to the lateral ventricles
what does the extent of hemorrhage range from?
small asymptomatic focus to massive IVH with or without hemorrhagic infarction in the periventricular white matter
PERIVENTRICULAR LEUKOMALACIA
what type of lesion is periventricular leukomalacia, and who gets it?
common ischemic lesion of preterm infants (full term can get it also)
where does it occur, and what type of damage occurs?
infarction of periventricular white matter (cerebral)
what is the vulnerable area of the centrum semiovale, and where is it located (between two things)?
boundary zone between ventriculpetal and ventriculofugal arteries
what % of hospital births have PVL?
5%
what % of LBW infants are affected?
as many as 35%
what are the initial manifestations of PVL like?
relatively nonspecific
what develops in most surviving infants?
spastic motor dysfunction (paraplegia, quadraplegia)