Path- 8: Developmental Disorders

Question 1

What happens in neural tube defects?

Answer 1

The neural tube fails to close a certain portion

Question 2

Where is Spina Bifida most common?

Answer 2

Lumbosacral region

Question 3

What is spina bifida occulata?

Answer 3

Usually asymptomatic, small tuft of hair or dimple, cleft remains covered, no Tx.

Question 4

What presents on a meningocele?

Answer 4

protrusion of the meninges as a fluid filled sac

Question 5

What happens in the meningomyelocele?

Answer 5

More extensive defect with spinal cord flattened. often involves neurological problems

Question 6

What happens in rachischisis?

Answer 6

Extreme defect where the spinal column is converted into a gaping canal

Question 7

How can the mom prevent spina bifida?

Answer 7

take Folate (B9)

Question 8

There is an increase in what protein in the amniotic fluid in cases of spina bifida?

Answer 8

a-fetoprotein

Question 9

In the cases of anencephaly, what is the poorly differentiated remnant called?

Answer 9

Cerebrovasculosa

Question 10

What are dimelias and diastematamyelias?

Answer 10

complete and partial duplications of the spinal cord

Question 11

What is hydromyelia?

Answer 11

dilation of the central canal of the spinal cord

Question 12

What is syringomyelia?

Answer 12

tubular cavitation which extends for a variable distance along the entire spinal cord, may or may not communicate with central canal

Question 13

Who gets syringomyelia?

Answer 13

Adults

Question 14

What causes syringomyelia?

Answer 14

Trauma, ischemia or tumors

Question 15

What are the Sx of syringomyealia?

Answer 15

motor and sensory deficits, associated with the anatomical location in the spinal cord

Question 16

Hydromyelias have a lining of what cells, which syringomyelia does not have?

Answer 16

Ependyma

Question 17

Where are syringobulbias?

Answer 17

The medulla. THeyre a variaent of syringomyelia

Question 18

When are the first signs of cerebral palsy?

Answer 18

develops shortly after birth

Question 19

Premature infants are at an increased risk of what condition to cause cerebral palsy?

Answer 19

intraparenchymal hemorrhage near thalamus and caudate –> may cause hydrocephalus

Question 20

where can infarcts be int he brain that can cause cerepbral palsy?

Answer 20

periventricular white matter necrosis and calcification, and destructive cystic lesions if white and grey matter involved

Question 21

What are the Sx of spastic palsy?

Answer 21

tense, contracted muscles (most common)

Question 22

What are the Sx of athetoid palsy?

Answer 22

constant, uncontrolled motion of limbs, head and eyes

Question 23

What are the Sx of ataxic palsy?

Answer 23

poor sense of balance, often causing falls and stumbles

Question 24

What one of the main neurological Sx of cerebral palsy?

Answer 24

Developmental delay

Question 25

Where is the locaiton that Arnold-Chiari Malformations affects?

Answer 25

medulla and cerebellum

Question 26

What are the clinical findings to A-CM?

Answer 26

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

Question 27

What are the Sx to type I chiari malformations?

Answer 27

severe head and neck pain, lose pain/temp of upper torso and arms, lose muscles in ahnds, spsticity, dizziness, blurred vision

Question 28

What are the deformations in ACM to cause the Sx?

Answer 28

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

Question 29

What is DWS?

Answer 29

dandy-walker, enlarged posterior fossa, cerebellar vermis abscent and cyst takes its palce

Question 30

| What is congenital hydrocephalus?

Answer 30

| Excessive amt of CSF, enlarged ventricles, most commoly the atresia of the cerebral aqueduct

Question 31

What causes the gliosis which can also close the ivf?

Answer 31

transplacental transmission of viruses that induce ependymitis

Question 32

What is noncommunicating hydrocephalus?

Answer 32

portion of the ventricular system is enlarged

Question 33

What is communicating (nonobsructive) hydrocephalus

Answer 33

enlargement of the entire vent. system, from a lack of reabsorption

Question 34

What happens in hydrocephalus ex vacuo?

Answer 34

dilation of the venticular system with an increase in CSF

Question 35

What is polymicrogyria?

Answer 35

presence of small and excessive gyri

Question 36

What is pachygyria?

Answer 36

gyri decrease in # and are usually broad

Question 37

What is lissencephaly?

Answer 37

Cortical surfaces are smooth or imperfectl formed gyri

Question 38

What are heterotopias?

Answer 38

focal defects that lead to modules f ectopic neurons, mental retard, may be from maternal alcoholism

Question 39

Type I lissencephaly is caused from what?

Answer 39

Failure of normal cell migration

Question 40

What is the epidemiology of type I lissencephaly?

Answer 40

1:500k, m=f, no risk factors, all are genetic

Question 41

What is trisomy 21?

Answer 41

down syndrome, mental retard, distinct facial features, mild cerebral atrophy

Question 42

Patient with downs often develop what disease pathology by the 4th decade?

Answer 42

Alzheimers

Question 43

Trisomy 13-15 typically causes what developmental defect?

Answer 43

Holoprosencephaly

Question 44

What happens in holoprosencephaly?

Answer 44

microcephaly, abscence of corpus collusum, absence of interhemispheric fissue, rarely compatible with life

Question 45

What is missing in Arrhinencephaly?

Answer 45

olfactor tracts and bulbs (rhinencephalon)

Question 46

What is arrinencephaly commonly associated with?

Answer 46

holoprosencephaly (or it can be by itself, whatevs)

Question 47

What are the facial findings in holoprosencephaly?

Answer 47

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

Question 48

What do you call a Mexican with a rubber toe?

Answer 48

Roberto