11 Pathology: Congenital Malformations and Perinatal Brain Injury

Question 1

Posterior Fossa Anomalies

• What is the most common malformation for these?
  
  • What are 3 common conditions associated with the above answer?

Answer 1

Question 2

Posterior Fossa Anomalies: Dandy-Walker Malformation

• What are the 3 major types of abnormalities seen in this condition?

Answer 2

Question 3

NTDs

• What is more common: Posterior NTDs or Anterior NTDs?
• What is the common asymptomatic posterior NTD?

Answer 3

Question 4

Perinatal Brain Injury

• What is the major difference in terms of how a neonate responds to a brain injury vs how an adult responds?
• What is the definition of cerebral palsy?
• When do these types of injuries present during a patients lifetime?

Answer 4

Question 5

Perinatal Brain Injuries

• What kind of infant has an increased risk for an intraparenchymal hemorrhage within the germinal matrix?
  
  • Where does this usually occur in the brain?
• If a hemorrhage extends in the ventricle system and then the subarachnoid space, what condition can arise?

Answer 5

Question 6

NTDs

• How common are NTDs in terms of CNS malformations?
• What vitamin can greatly increase the risk for these?
  
  • At what time during pregnancy is this more evident?
• What type of screening can be done early to detect NTDs?
• What are the 4 main types of NTDs?

Answer 6

Question 7

Holoprosencephaly

• Would arhinencephaly be considered a severe or mild case of Holoprosencephaly?
• What 2 occurrences are common the severe cases of Holoprosencephaly?
• What is the best known genetic cause of Holoprosencephaly?

Answer 7

Question 8

Posterior Fossa Anomalies: Chiari Type I

• Is this condition more severe than type II?
• What part of the cerebellum is implicated in this condition?
• What can happen to CSF flow?
• What can happen to the medulla?
• What symptoms can occur and when do these symptoms usually manifest?
  
  • What can alleviate these symptoms?

Answer 8

Question 9

Overview of Congenital Malformations and Perinatal Brain Injury

• What is the incidence of these malformations?
• What determines the pattern of malformation?

Answer 9

Question 10

NTDs

• Myelomeningocele
  
  • What happens to the CNS tissue in this type of NTD?
  • Where does it occur most often?
  • Where do patients get motor and sensory deficits?
  • What happens to the patient’s control of bowels and bladder?
  • What is the most common secondary problem that these patients face?

Answer 10

Question 11

Rett Syndrome

• What is the inheritance pattern of this condition?
• What gene is implicated?
• What kind of deficits are seen?
• When do patients present with symptoms?

Answer 11

Question 12

Forebrain Malformations: Microencephaly

• In the early stage of brain development, what zone do progenitor cells proliferate in?
  
  • Why do the number of neurons and glial cells actually decrease?
• Megalencephaly
  
  • Is this more or less common than Microencephaly?
    
    • What type of pathogenesis does this usually have can pretty much tell you the answer to the above question?

Answer 12

Question 13

Perinatal Brain Injuries: Infarcts

• In premature infants, what is the most common area for an infarct to occur?
• What can be seen in the above region after some time has passed after an infarct?
  
  • What happens to the white matter?
• When does multicystic encephalopathy occur?

Answer 13

Question 14

Posterior Fossa Anomalies: Chiari Type II

• What are the 3 types of pathology seen in this condition?
• What 2 conditions are associated with Chiari Type II?

Answer 14

Question 15

Perinatal Brain Injuries

• What are the 2 most common types of injuries?

Answer 15

Hemorrhages and infarcts

Question 16

Microencephaly

• Besides a small forebrain, what else can happen do neurons?
  
  • What condition affects the midline and is a prime example of the above question?

Answer 16

Question 17

Forebrain Malformations

• What is the difference between lissencephaly and polymicrogyria?

Answer 17

Question 18

Forebrain Malformations

• What is the difference between microencephaly and microcephaly?
• What are the viruses most associated with microencephaly?
  
  • What genetic abnormality is associated with it?
  • What environmental factor can cause it?
  • What is the unifying feature of all the above?

Answer 18

Question 19

Encephalocele

• What is the most obvious characteristic thing about this NTD?
• What 2 structures/regions are most commonly involved?
• If this occurs at the rostral part of the head, where does brain tissue penetrate?

Answer 19

Question 20

Anencephaly

• In addition to the lack of a forebrain, what other structure is missing in this NTD?
• Does this affect the posterior fossa?

Answer 20

Question 21

Perinatal Brain Injuries: Infections

• What are the TORCH(S) agents that cause perinatal brain injuries?

Answer 21