Pediatric Diseases

Question 1

Germinal Matrix

Answer 1

Where neurons divide and migrate from

Question 2

4 Kinds of Neural Tube Defects

Answer 2

Anencephaly - loss of cerebral hemisphere
Meningocele - meninges protrude
Meningoencephalocele - brain protrudes too
Meningomyelocele - spinal cord too

Question 3

Effect of Congenital Hydrocephalus

Answer 3

White matter gets compressed, cortex stays relatively normal

Question 4

2 Probable Causes of Arnold Chiari Malformations

Answer 4

Lumbar tethering of spinal cord

Overgrowth of pons

Question 5

Dandy-Walker Malformation

Answer 5

Absence of posterior fossa structures, like posterior vermis. Get massive hydrocephalus w/ enlargement of fourth ventricle from posterior fossa “cyst”

Question 6

Holoprosencephaly

Answer 6

Single cerebral hemisphere (holosphere) and 1 large lateral ventricle. Can be from variety of factors, but get significant midline facial defect w/ trisomy 13

Question 7

Lissencephaly

Answer 7

“smooth brain” from neuronal migration disorder w/ absent or reduced gyri and “double layered” large cortex. Also w/ characteristic seizure pattern

Question 8

Cause of Lissencephaly (and important point)

Answer 8

By single gene mut in Lis1 or Doublecortin but APPEARANCE SAME IN EACH

Question 9

3 Perinatal Disorders

Answer 9

Germinal Matrix Hemorrhage
Periventricular Leukoencephalopathy
Hypoxic-Ischemic Encephalopathy

Question 10

Germinal Matrix Hemorrhage

Answer 10

Immature bvs in GM/lack of glial structures/elevated R heaert failure due to resp insufficiency can cause. More likely the earlier baby is born bc will have more germinal matrix

Question 11

4 Grades of Germinal Matrix Hemorrhage

Answer 11

I: Within GM
II: Ventricular extension, mild
III: Massive ventricular extension, expanding them
IV: Intraparenchymal extension

Question 12

Periventricular Leukoencephalopathy

Answer 12

Necrosis in periventricular white matter, often w/ hypoxia-ischemia on border zones (most vulnerable). Premies also more vulnerable

Question 13

Hypoxic-Ischemic Encephalopathy

Answer 13

Often subcortical damage/ponto-subicular necrosis related to perinatal asphyxia (cord wrapped around neck) so no relationship to gestational age

Question 14

Cerebral Palsy

Answer 14

Fixed neurological deficit related to perinatal injury. Symptoms vary according to location. Can be from PVL, HIE, cerebral infarct, etc