DIMITRI P. AGAMANOLIS, M. D. Akron Childrens Hospital NorthEastern Ohio Universities College of Medicine Neuropathology
TEST-CHAPTER ELEVEN
CNS MALFORMATIONS
Questions marked with * are more appropriate for residents.
1. Exposure to a teratogen may cause CNS malformations if it occurs at 3 to 8 weeks of gestation and have minimal or no effects if it occurs later
A. True
B. False
2. Congenital CMV infection at 9-12 weeks of gestation can cause:
A. Porencephaly
B. Polymicrogyria
C. Schizencephaly
D. All of the above
3. Congenital CMV infection starting at 37 weeks gestation can cause:
A. Polymicrogyria
B. Schizencephaly
C. Microcephaly
D. CMV encephalitis
4. To be effective in preventing neural tube defects, women of child-bearing age must take 0.8 mg folic acid daily:
A. From conception to 8 weeks of gestation
B. 4 weeks before to 4 weeks after conception
C. 4 weeks before to 8 weeks after conception
D. 8 weeks before and 8 weeks after conception
5. Which is not a neural tube defect
A. Hydranencephaly
B. Exencephaly
C. Anencephaly
D. Encephalocele
6. Mutation of which is associated with NTDs?
A. Factor V Leiden
B. Prothrombin 20210A
C. MTHFR
D. Factor XIII
*7. Which of the following mutations is associated with NTDs?
A. MTHFR 677
B. MTHFR 1928
C. Both
D. Neither
8. Alobar holoprosencephaly (HPE) is incompatible with survival
A. True
B. False
9. HPE may be associated with all of the following except:
A. Fusion of the thalami
B. Hydrocephalus
C. Absence of the olfactory nerves
D. Abnormal cortical cytoarchitecture
10. HPE may be associated with all of the following except:
A. Fusion of the thalami
B. Fusion of the frontal lobes
C. Cerebellar hypoplasia
D. Absence of olfactory nerves
*11. A newborn baby with a single central incisor may have:
A. Schizencephaly
B. Agenesis of the corpus callosum
C. HPE
D. Cerebellar hypoplasia
12. Which of the following is implicated in the pathogenesis of HPE?
A. Folate deficiency
B. Fetal viral infection
C. Abnormal cytoskeletal assembly
D. Abnormal cholesterol metabolism
13. Agenesis of the corpus callosum may be confused in fetal ultrasound with alobar HPE
A. True
B. False
14. Patients with agenesis of the corpus callosum may have relatively normal intelligence
A. True
B. False
15. The most common chromosomal abnormality associated with HPE is:
A. Trisomy 13
B. Trisomy 18
C. Trisomy 21
D. Triploidy
16. Lissencephaly is most commonly associated with:
A. Fetal CMV infection
B. Mutations of sonic hedgehog
C. Mutations of L1CAM
D. Abnormal folate metabolism
E. Microdeletions of chromosome 17p
17. Which of the following is associated with abnormal cortical layering:
A. Peroxisomal defect
B. Folate deficiency
C. Sonic hedgehog mutation
D. Dystrophin mutation
*18. Abnormal neuronal migration may cause:
A. Schizencephaly
B. Lissencephaly
C. HPE<
D. Agenesis of the corpus callosum
*19. A smooth cortex and large ventricles on fetal ultrasound without other abnormalities is most likely caused by:
A. An inherited metabolic disorder of peroxisomes
B. A genetic condition associated with congenital muscular dystrophy
C. Both
D. Neither
20. A microdeletion of 17p may be associated with:
A. Polymicrogyria
B. Lissencephaly
C. Schizencephaly
D. Agenesis of the corpus callosum
21. A thick cortex with abnormal neuronal layering is seen in:
A. Pachygyria
B. Lobar HPE
C. Dandy Walker Syndrome
D. All of the above
22. Lissencephaly may be associated with all of the following except:
A. X-linked inheritance
B. Mid-facial abnormalities
C. Seizures
D. Hypotonia in infancy
23. Hydrocephalus ex vacuo is seen in all of the following conditions except:
A. Huntington’s disease
B. Parkinson’s disease
C. Alzheimer’s disease
D. MS
24. The most common cause of obstructive hydrocephalus in children is:
A. X-linked aqueductal stenosis
B. Meningitis
C. Tuberous sclerosis
D. Posterior fossa tumors
25. The Chiari I malformation shows all of the following except:
A. Dilated ventricles in some cases
B. Syringomyelia
C. Myelomeningocele
D. Displacement of cerebellar tonsils into the spinal canal
26. The key feature of the Dandy-Walker Syndrome is:
A. Agenesis of the cerebellar vermis
B. Dilatation of the lateral ventricles
C. A large cisterna magna
D. Myelomeningocele
27. Patients with the Chiari II malformation may have all of the following except:
A. Seizures
B. Paralysis of the lower extremities
C. Bladder incontinence
D. Bacterial ventriculitis
28. The picture below shows the spinal cord in the center. A portion of a vertebral body is seen anterior to it. The illustrated pathology may be associated with all of the following except:
Neural tube defect
A. Occipital encephalocele
B. Hydrocephalus
C. Herniation of the cerebellar vermis
D. Small posterior fossa
*29. The picture below shows the cerebellum viewed from behind and above. The illustrated pathology is:
Dandy-Walker malformation
A. Usually an inherited defect
B. Usually a sporadic lesion
30. The illustrated pathology is invariably associated with severe psychomotor
retardation
Dandy-Walker malformation
A. True
B. False
31. The illustrated pathology is associated with:Hydrocephalus
A. Irreversible neurological damage
B. Reversible damage if shunted in time
32. The pathology in a newborn infant depicted below is associated with:Lissencephaly
A. Folate deficiency
B. Sonic hedgehog mutations
C. X-linked inheritance
D. Excess retinoic acid
33. The pathology depicted is associated with all of the following except:Holoprosencephaly
A. An autosomal trisomy
B. Absence of olfactory nerves
C. Myelomeningocele
D. Fusion of the thalami
*34. The illustrated lesion may be associated with all of the following except:Agenesis of the corppus callosum
A. Absence of olfactory nerves
B. Normal intelligence
C. Dilated posterior horns of the lateral ventricles
D. Abnormal inferior olives
35. Lobar HPE may be associated with relatively normal intelligence
A. True
B. False