Path- 8: Developmental Disorders Flashcards
What happens in neural tube defects?
The neural tube fails to close a certain portion
Where is Spina Bifida most common?
Lumbosacral region
What is spina bifida occulata?
Usually asymptomatic, small tuft of hair or dimple, cleft remains covered, no Tx.
What presents on a meningocele?
protrusion of the meninges as a fluid filled sac
What happens in the meningomyelocele?
More extensive defect with spinal cord flattened. often involves neurological problems
What happens in rachischisis?
Extreme defect where the spinal column is converted into a gaping canal
How can the mom prevent spina bifida?
take Folate (B9)
There is an increase in what protein in the amniotic fluid in cases of spina bifida?
a-fetoprotein
In the cases of anencephaly, what is the poorly differentiated remnant called?
Cerebrovasculosa
What are dimelias and diastematamyelias?
complete and partial duplications of the spinal cord
What is hydromyelia?
dilation of the central canal of the spinal cord
What is syringomyelia?
tubular cavitation which extends for a variable distance along the entire spinal cord, may or may not communicate with central canal
Who gets syringomyelia?
Adults
What causes syringomyelia?
Trauma, ischemia or tumors
What are the Sx of syringomyealia?
motor and sensory deficits, associated with the anatomical location in the spinal cord
Hydromyelias have a lining of what cells, which syringomyelia does not have?
Ependyma
Where are syringobulbias?
The medulla. THeyre a variaent of syringomyelia
When are the first signs of cerebral palsy?
develops shortly after birth
Premature infants are at an increased risk of what condition to cause cerebral palsy?
intraparenchymal hemorrhage near thalamus and caudate –> may cause hydrocephalus
where can infarcts be int he brain that can cause cerepbral palsy?
periventricular white matter necrosis and calcification, and destructive cystic lesions if white and grey matter involved
What are the Sx of spastic palsy?
tense, contracted muscles (most common)
What are the Sx of athetoid palsy?
constant, uncontrolled motion of limbs, head and eyes
What are the Sx of ataxic palsy?
poor sense of balance, often causing falls and stumbles
What one of the main neurological Sx of cerebral palsy?
Developmental delay
Where is the locaiton that Arnold-Chiari Malformations affects?
medulla and cerebellum
What are the clinical findings to A-CM?
compression of the upper part of the spine at the base of the skull, bony unions of the vertebrae, Klippel Feil deformity, cervical spinal bifida, scoliosis
What are the Sx to type I chiari malformations?
severe head and neck pain, lose pain/temp of upper torso and arms, lose muscles in ahnds, spsticity, dizziness, blurred vision
What are the deformations in ACM to cause the Sx?
when the meningomyelocele anchors the lower end of the spinal cord –> downward growth of spinal cord –> traction of medulla –> curvature of medulla + increase in ICP
Also u can have caudal cerbellar vermis herniation through foramen magnum
What is DWS?
dandy-walker, enlarged posterior fossa, cerebellar vermis abscent and cyst takes its palce
<p>
| What is congenital hydrocephalus?</p>
<p>
| Excessive amt of CSF, enlarged ventricles, most commoly the atresia of the cerebral aqueduct</p>
What causes the gliosis which can also close the ivf?
transplacental transmission of viruses that induce ependymitis
What is noncommunicating hydrocephalus?
portion of the ventricular system is enlarged
What is communicating (nonobsructive) hydrocephalus
enlargement of the entire vent. system, from a lack of reabsorption
What happens in hydrocephalus ex vacuo?
dilation of the venticular system with an increase in CSF
What is polymicrogyria?
presence of small and excessive gyri
What is pachygyria?
gyri decrease in # and are usually broad
What is lissencephaly?
Cortical surfaces are smooth or imperfectl formed gyri
What are heterotopias?
focal defects that lead to modules f ectopic neurons, mental retard, may be from maternal alcoholism
Type I lissencephaly is caused from what?
Failure of normal cell migration
What is the epidemiology of type I lissencephaly?
1:500k, m=f, no risk factors, all are genetic
What is trisomy 21?
down syndrome, mental retard, distinct facial features, mild cerebral atrophy
Patient with downs often develop what disease pathology by the 4th decade?
Alzheimers
Trisomy 13-15 typically causes what developmental defect?
Holoprosencephaly
What happens in holoprosencephaly?
microcephaly, abscence of corpus collusum, absence of interhemispheric fissue, rarely compatible with life
What is missing in Arrhinencephaly?
olfactor tracts and bulbs (rhinencephalon)
What is arrinencephaly commonly associated with?
holoprosencephaly (or it can be by itself, whatevs)
What are the facial findings in holoprosencephaly?
A. Cylopia and proboscis above the singe eye B. Cebocephaly and hypotelorism C. Semilobar with microcephaly, premaxillary agenesis, and midline cleft lip and palate D. Semilobar with hypotelorism, midface hypoplasia, and mild dysmorphism
What do you call a Mexican with a rubber toe?
Roberto
