Friede, R.L. (1989). Developmental neuropathology, 2nd ed. Berlin: Springer-Verlag.

Golden, J.A. & Harding, B.N. (2004). Pathology and genetics. Basel: Developmental Neuropathology ISN Neuropath Press.

Leech, R.W. & Brumback R.A. (1991). Hydrocephalus: current clinical concepts. St. Louis: Mosby-Year Book.

Norman, M.G., McGillivray, B.C., Kalousek, D., et al. (1995). Congenital malformations of the brain. New York: Oxford University Press.


1. Maternal diseases that predispose to cerebral malformations in offspring are:

A. Phenylketonuria

B. Diabetes mellitus

C. Wilson's disease

D. Megaloblastic anemia

E. Multiple sclerosis

2. Concerning meningomyelocele, all the following statements are correct except:

A. The common site is the lumbosacral region.

B. It is commonly associated with the DandyWalker syndrome.

C. It is associated with the Arnold-Chiari malformation.

D. It may be associated with an epidermoid cyst.

E. It may be associated with an enterogenous cyst.

3. Clinically, syringomyelia is best characterized by:

A. Loss of vibration and positional sensations

B. Loss of pain and temperature sensations

C. Ataxic gait

D. Loss of positional sense

E. Urinary incontinence

4. Diastematomyelia refers to:

A. Two half cords separated by a bony spur

B. Two whole cords within the dural sac

C. A cystic cavity within the cord

D. A dilated central canal

E. A tube-like cavity in the cervical region

5. Concerning holoprosencephaly, which of the following are correct?

A. It can be caused by excessive alcohol consumption of the mother during pregnancy.

B. The brain is not divided into hemispheres.

C. It can be inherited as an autosomal dominant trait.

D. It is associated with facial anomalies.

E. It is associated with trisomy 21.


6. Which of the following characterize hydran-encephaly?

A. The ventricles are dilated due to obstruction of CSF flow at foramen Magendie.

B. The cerebral hemispheres are transformed into two cystic cavities.

C. It is caused by an ischemic-hypoxic insult in the carotid territories.

D. It is caused by an ischemic-hypoxic insult in vertebrobasilar territories.

7. Concerning cortical dysplasia, all the following statements are correct except:

A. It is a complication of hydrocephalus.

B. It results from a disorder of neuronal migration and organization.

C. It manifests with seizures.

D. It manifests as polymicrogyria.

E. It manifests as lissencephaly.

8. All the following characterize lissencephaly type 1 except:

A. It displays a six-layered cortex.

B. It is inherited as an autosomal dominant trait.

C. It is associated with mutations in gene ARX on chromosome X.

D. It is associated with mutations in gene LIS1 on chromosome 17.

E. It is sporadic.

9. Common sites of heterotopia are:

A. Periventricular

B. Subcortical

C. Leptomeningeal

D. All of these

E. None of these

10. Which of the following characterize dysplastic gangliocytoma, or Lhermitte-Duclos disease?

A. The cerebellar cortex shows focal thickening.

B. T2-weighted MRI shows hyperintensity of the cortex.

C. The cerebellar vermis is malformed.

D. The cortex is replaced by a dense astrocytic fibrosis.

E. The granule cell layer is degenerated.

11. Characteristics of the Dandy-Walker malformation include all except:

A. Malformation of the cerebellar vermis

B. Cystic dilations of the fourth ventricle

C. Hydrocephalus

D. Failure of opening of foramen Luschka

E. Small posterior fossa

12. All the following statements concerning true microencephaly are correct except:

A. The cortex shows lissencephaly.

B. It can be X-linked inherited.

C. Autosomal recessive microencephaly is associated with mutation in gene MCPH1.

D. The gene MCPH1 maps to chromosome 15.

E. It can be dominantly inherited.

13. Ocular changes that occur in encephalofacial angiomatosis (Sturge-Weber-Dimitri syndrome) are:

A. Choroidal angioma

B. Congenital glaucoma

C. Buphthalmos

D. All of these

E. None of these

14. In tuberous sclerosis complex, typical visceral lesions are:

A. Hamartomas of the kidneys

B. Rhabdomyoma of the heart

C. Angioma of the pancreas

D. Hepatoma

E. Thymoma

15. Histologic changes that characterize tuberous sclerosis are:

A. Subependymal ventricular nodules

B. Heterotopia

C. Cortical tubers

D. Four-layered cerebral cortex

E. Hydromyelia

16. The typical radiologic finding in encephalofa-cial angiomatosis is:

A. Periventricular calcification

B. A small sella turcica

C. Double-contoured curving lines in the cerebral cortex

D. Calcification in the globus pallidus

E. Thinning of the frontal bone

17. Histologic changes commonly encountered in the brains of individuals with Down syndrome who died after age 30-35 years include:

A. Pick bodies

B. Neuritic plaques

C. a-Synuclein positive cytoplasmic inclusions

D. Neurofibrillary tangles

E. Amyloid precursor protein (APP) deposits in neuritic plaques

(Answers are provided in the Appendix.)


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