Here are 50 MCQs based on all three files (CNS Genetic Metabolic Diseases, Demyelinating Diseases, and CNS Tumors). Correct answers are distributed across all options (A, B, C, D) with no repetitive pattern.
CNS PATHOLOGY - 50 MCQ EXAM
Topics: Genetic Metabolic Diseases | Demyelinating Diseases | CNS Tumors
1. Neuronal storage diseases are predominantly:
- A) X-linked dominant disorders
- B) Autosomal dominant disorders
- C) Autosomal recessive disorders
- D) Mitochondrial disorders
2. Which of the following best describes the primary pathological mechanism in neuronal storage diseases?
- A) Demyelination of peripheral nerves
- B) Deficiency of an enzyme or trafficking protein leading to accumulation of storage material
- C) Mitochondrial DNA mutation
- D) Autoimmune destruction of neurons
3. Which disease is NOT classified as a leukodystrophy?
- A) Krabbe disease
- B) Adrenoleukodystrophy
- C) Tay-Sachs disease
- D) Metachromatic leukodystrophy
4. The diagnostic morphological feature of Krabbe disease is:
- A) Sulfatide crystal deposits in macrophages
- B) Ragged red fibers on muscle biopsy
- C) Aggregation of engorged macrophages called globoid cells
- D) Cystic spaces with hemosiderin-laden macrophages
5. Krabbe disease is caused by deficiency of which enzyme?
- A) Arylsulfatase A
- B) Hexosaminidase A
- C) Galactocerebroside beta-galactosidase
- D) Sphingomyelinase
6. In Krabbe disease, elevated galactosylsphingosine is toxic to which cells?
- A) Neurons and microglia
- B) Oligodendrocytes and astrocytes
- C) Schwann cells and ependymal cells
- D) Purkinje cells and granule cells
7. Onset of symptoms in Krabbe disease typically occurs at:
- A) 10-12 years of age
- B) Birth (immediately postnatal)
- C) 3-6 months of age
- D) 2-5 years of age
8. In Krabbe disease, which cells are spared pathologically?
- A) Oligodendrocytes and astrocytes
- B) Globoid cells and macrophages
- C) Neurons and axons
- D) Schwann cells only
9. Metachromatic leukodystrophy results from deficiency of:
- A) Beta-galactosidase
- B) Arylsulfatase A
- C) ABCD1 transporter protein
- D) Hexosaminidase B
10. The term "metachromasia" in metachromatic leukodystrophy refers to:
- A) The ability of sulfatides to shift the absorbance spectrum of toluidine blue dye
- B) Color change of myelin on MRI
- C) Red appearance of neurons on H&E stain
- D) Fluorescence of cerebroside sulfate under UV light
11. In metachromatic leukodystrophy, accumulated sulfatides can be detected in which locations EXCEPT:
- A) Peripheral nerves
- B) Urine
- C) White matter
- D) Mammillary bodies
12. Adrenoleukodystrophy is inherited as:
- A) Autosomal dominant
- B) Autosomal recessive
- C) X-linked recessive
- D) Mitochondrial inheritance
13. The gene mutated in adrenoleukodystrophy is:
- A) MTTL1
- B) HEXA
- C) ARSA
- D) ABCD1
14. Loss of ABCD1 function leads to accumulation of:
- A) Galactosylsphingosine
- B) Cerebroside sulfate
- C) Very-long-chain fatty acids
- D) Mucopolysaccharides
15. Which of the following is a clinical feature specific to adrenoleukodystrophy (NOT seen in other leukodystrophies)?
- A) Seizures
- B) Adrenal insufficiency
- C) Progressive demyelination
- D) White matter gliosis
16. The morphological hallmark of adrenoleukodystrophy includes:
- A) Globoid cells around blood vessels
- B) Vacuolated macrophages with crystalloid structures
- C) Myelin loss with lymphocytic infiltration in white matter
- D) Spongiosis of brainstem nuclei
17. Mitochondrial encephalopathies can be caused by mutations in:
- A) Nuclear genome only
- B) Lysosomal enzyme genes only
- C) Both nuclear and mitochondrial genomes
- D) Peroxisomal transporter genes only
18. The most common mutation observed in MELAS is in the gene encoding:
- A) Mitochondrial tRNA-leucine (MTTL1)
- B) Cytochrome c oxidase
- C) ATP synthase subunit 6
- D) NADH dehydrogenase
19. MERRF is characterized by myoclonus and a myopathy. What is the characteristic finding on muscle biopsy?
- A) Globoid cells
- B) Ragged red fibers
- C) Vacuolated cytoplasm
- D) Neurogenic atrophy
20. MERRF is transmitted via which inheritance pattern?
- A) Autosomal recessive
- B) X-linked recessive
- C) Autosomal dominant
- D) Maternally transmitted
21. Leigh syndrome is a disease primarily of:
- A) Adolescence
- B) Infancy
- C) Middle-aged adults
- D) Elderly patients
22. Which is NOT a feature of Leigh syndrome?
- A) Lactic acidemia
- B) Seizures
- C) Relapsing and remitting neurologic episodes
- D) Extraocular palsies
23. The histological appearance of Leigh syndrome shows:
- A) Demyelination with gliosis and vacuolated macrophages
- B) Multifocal spongiform destruction with vascular proliferation
- C) Globoid cell infiltration around vessels
- D) Lymphocytic infiltration of white matter
24. Brain structures symmetrically involved in Leigh syndrome include:
- A) Hippocampus and amygdala
- B) Frontal and temporal cortex
- C) Brainstem nuclei, thalamus, and hypothalamus
- D) Cerebellar vermis and dentate nucleus
25. Death in Leigh syndrome usually occurs within:
- A) Days to weeks of birth
- B) 1-2 years of onset
- C) 5-10 years of onset
- D) Early adulthood
26. Wernicke encephalopathy is most commonly associated with:
- A) Vitamin B12 deficiency
- B) Chronic alcoholism
- C) Diabetes mellitus
- D) Hypothyroidism
27. The morphological finding in Wernicke encephalopathy includes hemorrhage and necrosis of the:
- A) Frontal and parietal cortex
- B) Hippocampus and entorhinal cortex
- C) Mammillary bodies and walls of the 3rd and 4th ventricles
- D) Brainstem and dentate nucleus
28. Korsakoff syndrome is the CHRONIC phase of Wernicke-Korsakoff syndrome. Its morphology shows:
- A) Hemorrhagic necrosis of mammillary bodies
- B) Cystic spaces with hemosiderin-laden macrophages in the dorsomedial thalamus
- C) Global demyelination of white matter
- D) Spongiosis with globoid cells
29. Which clinical feature distinguishes Korsakoff syndrome from Wernicke encephalopathy?
- A) Ophthalmoplegia
- B) Confabulation and short-term memory disturbance
- C) Acute psychosis and ataxia
- D) Peripheral neuropathy
30. Wernicke encephalopathy is reversible with:
- A) Vitamin B12 replacement
- B) Corticosteroids
- C) Thiamine replacement
- D) Folic acid administration
31. Subacute combined degeneration of the spinal cord is caused by deficiency of:
- A) Thiamine (Vitamin B1)
- B) Pyridoxine (Vitamin B6)
- C) Vitamin B12
- D) Niacin (Vitamin B3)
32. Demyelinating diseases of the CNS are characterized by:
- A) Primary neuronal death with secondary axon loss
- B) Preferential damage to myelin with relative preservation of axons
- C) Symmetric loss of gray matter with white matter sparing
- D) Immune-mediated destruction of axons and myelin equally
33. The natural history of demyelinating disease is partly determined by:
- A) The degree of peripheral nerve involvement
- B) The limited capacity of the CNS to regenerate normal myelin
- C) The presence of autoimmune antibodies in the CSF
- D) The geographic location of the patient
34. Progressive multifocal leukoencephalopathy (PML) is caused by:
- A) Autoimmune attack on oligodendrocytes
- B) JC virus infection of oligodendrocytes
- C) EBV infection of B lymphocytes in the CNS
- D) CMV infection of neurons
35. Multiple sclerosis is classified as:
- A) A genetic metabolic disorder
- B) A paraneoplastic syndrome
- C) An autoimmune demyelinating disorder
- D) A mitochondrial encephalopathy
36. MS lesions (plaques) are characterized by white matter lesions that are:
- A) Unilateral and unifocal
- B) Separated in time and space
- C) Limited to the spinal cord
- D) Located exclusively in the brainstem
37. The most common pattern of clinical course in Multiple Sclerosis is:
- A) Steadily progressive from onset
- B) Acute monophasic episode with full recovery
- C) Relapsing and remitting episodes
- D) Chronic progressive with no remissions
38. In Multiple Sclerosis, women are affected how many times more than men?
- A) Equally affected
- B) Twice as often
- C) Three times as often
- D) Four times as often
39. What percentage of CNS tumors in children are metastatic?
- A) 75%
- B) 25-50%
- C) Less than 5%
- D) About 60%
40. CNS tumors account for what percentage of all cancers in childhood?
- A) 5%
- B) 10%
- C) 20%
- D) 35%
41. In childhood, the majority of CNS tumors are located in the:
- A) Cerebral hemisphere above the tentorium
- B) Spinal cord
- C) Posterior fossa
- D) Lateral ventricles
42. In adults, the majority of CNS tumors are located in the:
- A) Posterior fossa
- B) Cerebral hemisphere above the tentorium
- C) Brainstem
- D) Spinal cord
43. A unique characteristic of CNS tumors compared to tumors elsewhere is:
- A) They always metastasize via the bloodstream
- B) Histologically benign glial tumors can still be infiltrative and cause serious clinical deficits
- C) They are uniformly responsive to chemotherapy
- D) They are always malignant if found in the brain
44. Even the most highly malignant gliomas rarely metastasize outside the CNS. When spread occurs, it is through:
- A) Lymphatic channels
- B) Hematogenous spread via arteries
- C) The CSF (cerebrospinal fluid)
- D) Direct bone invasion
45. A benign CNS tumor located in the posterior fossa can be lethal because it may:
- A) Produce paraneoplastic antibodies
- B) Compress the medulla causing cardiorespiratory arrest
- C) Secrete excessive CSF leading to hydrocephalus
- D) Invade the brainstem through hematogenous spread
46. Why can't many CNS tumors be completely surgically resected?
- A) They are too vascular to remove safely
- B) They diffusely infiltrate white and gray matter compromising neurologic function
- C) They secrete factors that prevent hemostasis
- D) They are always located in the brainstem
47. Which of the following leukodystrophies affects peripheral nerves in addition to the CNS?
- A) Metachromatic leukodystrophy only
- B) Adrenoleukodystrophy only
- C) Both Krabbe disease and metachromatic leukodystrophy
- D) All three leukodystrophies equally
48. Which is a mitochondrial encephalopathy characterized by recurrent episodes of acute neurologic dysfunction, muscle weakness, and lactic acidosis?
- A) Leigh syndrome
- B) MERRF
- C) MELAS
- D) Krabbe disease
49. Tay-Sachs disease is classified under which category of genetic metabolic CNS diseases?
- A) Mitochondrial encephalopathy
- B) Leukodystrophy
- C) Neuronal storage disease
- D) Demyelinating disease
50. Which of the following correctly pairs a disease with its pattern of inheritance?
- A) Adrenoleukodystrophy - Autosomal recessive
- B) Metachromatic leukodystrophy - X-linked recessive
- C) Krabbe disease - Autosomal dominant
- D) MERRF - Maternally transmitted (mitochondrial)
End of Exam - 50 Questions
Topics covered: Genetic Metabolic Diseases (Neuronal Storage Diseases, Leukodystrophies, Mitochondrial Encephalopathies), Vitamin Deficiencies (B1/B12), Demyelinating Diseases of CNS, CNS Tumors