Path VII Flashcards
myelomeningocele
herniation of CNS tissue through vertebral defect
common spot for myelomeningocele
lumbosacral
Tx myelomeningocele
surgical correction
meckel gruber syndrome
ciliopathy
what type of defect is encephalocele
defect in cranial mesodermal development
where do enecephalocele’s herniate
through axial mesodermal defect of the skull
most common spot for herniation of encephalocele
occipital lobe
cardinal feature of Meckel Gruber syndrome
encephalocele
clinical signs meckel gruber syndrome
cysts in kidneys
polydactlyly
encephalocele
difference in kinesin and dynein
kinesin is anterograde
dynein is retrograde
what signaling system is affected with mutate polycystin 1 or 2
Wnt Hedgehog
what is hydromyelia
over distension of central canal
signs hydromyelia
pain in neck, shoulders usually numb HA leg or hand weakness numbness or loss of sensation in hands and feet problems with walking loss of bowel and bladder control spasticity and paralysis of legs
What anomalies occur in the posterior fossa
chiari malformation I and II
what location of brain is posterior fossa
brainstem and cerebellum
what anomalie occurs in the large posterior fossa
dandy walker malformation
what part of brain herniates with chiari type I
peg of cerebellar tonsil
signs chiari type I herniation
asymptomatic of neck pain lower CN palsies sleep apnea sudden death cerebellar ataxia, late onset hydrocephalus, long tract signs signs syringomyelia
syringomyelia assoc with with anomalie
chiari type I
major pathologic factor in chiari type I
occipital dysplasia
is there a NT defect in chiari type I
no
what causes the syringomyelia in chiari type I
when the herniation occurs there is obstruction to CSF flow causing dilation of central canal of spinal cord
cape like distribtuion of pain
chiari type I
expected MRI findings for chiari type I
herniation of 1 or both cerebellar tonsils below foramen magnum cervico medullary kinking may be present absence supratentorial anomalies 4th ventricle in usual loaction syringomyelia in majority
chiari type II characteristics
lumbosacral myelomeningocele
shallow posterior fossa with enlarged foramen magnum and low tentorial insertion, herniation of vermis and tonsils
common finding in chiari type II
lumbosacral myelomeningocele
hydrocephalus
dandy walker malformation
large posterior fossa
no vermis
hydrocephalus
how does 4th ventricle appear in dandy walker malformation
semi transparent membrain along margins because the vermis is missing
communicating hydrocephalus
hypersecretion CSF
no obstruction
choroid plexus papilloma
causes of non communicating or obstructive hydrocephalus
obstruction foramina monro or third ventricle or aqueduct of foramina luschka or defective filtration CSF or fibrosis of subarachnoid space
hydrocephalus ex vacuo
idiopathic external hydrocephalus
where is foramina of luschka
out of 4th ventricle
what can cause obstruction 3rd ventricle
craniopharyngioma, germ cell tumors
hydrocephalus ex vacuo
dilatation of ventricles from loss of brain tissue
alzhemiemrs, huntingtons, MS
idiopathic external hydrocephalus
usually resolves without Tx
infants
probably from immaturity of arachnoid villi
what can cause obstruction foramina of monro
colloid cysts, tuberous sclerosis
what can cause fibrosis subarachnoid space
meningitis, subarachnoid hemorrhage, meningeal dissemination of tumors
What is transependymal edema
pressure in ventricles push fluid through ependymal lining into periventricular white matter
what area is hit first with hydrocephalus
periventricular white matter, loses myelin and axons
Holoprocencephlay
absence of cleavage of forebrain between 4-6 weeks gestation
conditions assoc with holoprocencephaly
maternal DM, toxoplasmosis, syphilis, rubella, fetal alcohol syndrome, genetic
common chromosomal anomaly with holoprocencephaly
trisomy 13 Patau
what anomalies are assoc with agenesis of corpus callosum
arnold chiari (II)
dandy walker syndrome
andermann syndrome
schizencephaly
what is andermann syndrome
motor and sensory neuropathy
K Cl cotransporter
signs agenesis corpus callosum
asymptomatic
subtle perceptual deficitis
seizures
psychomotor retardation!
bat wings appearance of corpus callosum
agenesis
