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Central Nervous System

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Pathology of Childhood and Adolescence

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Abstract

The neuropathology is the study of disease of nervous system tissue working closely with the clinical disciplines of neurology, neurosurgery, and metabolic experts. This chapter is far from being a comprehensive study of the brain and spinal cord but will allow dealing with the most common pediatric neuropathology topics, such as the holoprosencephaly and aprosencephaly. A session will be devoted to the neuropathology of the acardius or twin reversed arterial perfusion sequence.

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    Consolato M. Sergi

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Multiple Choice Questions and Answers

Multiple Choice Questions and Answers

  • CNS-1 Which of the following risk factors are NOT modifiable risk factors of neural tube defects?

    1. (a)

      Genetic defects

    2. (b)

      Maternal diabetes

    3. (c)

      Maternal obesity

    4. (d)

      Maternal hyperthermia

    5. (e)

      Valproate

    6. (f)

      Inadequate maternal nutritional status

  • CNS-2 What is the most appropriate definition of Rhombencephalosynapsis?

    1. (a)

      Bilateral brain malformation characterized by a fusion of the cerebellar hemispheres.

    2. (b)

      Bilateral brain malformation characterized by missing cerebellar vermis and fusion of the cerebellar hemispheres.

    3. (c)

      Midline brain malformation characterized by missing cerebellar vermis with a fusion of the cerebellar hemispheres.

    4. (d)

      Midline brain malformation characterized by a fusion of the cerebellar hemispheres.

  • CNS-3 An 18-year-old boy suffers from a head injury playing at home with an older sibling with mental disabilities. Parents are consanguineous (first-cousins) and are recently immigrants from Middle East. The boy develops the symptoms of the syndrome of inappropriate anti-diuresis hormone (ADH) or vasopressin following an abnormally high level of its secretion. Which signs are going to be be experienced by the attending physician during the physical examination and lab work-up of this boy?

    1. (a)

      Hyponatremia due to direct inhibition of ADH on distal tubular sodium resorption

    2. (b)

      Hyponatremia due to the dilutional effect of ADH-induced hydric retention in the collecting tubules

    3. (c)

      Hypernatremia due to direct stimulation of ADH on distal tubular sodium resorption

    4. (d)

      Hypernatremia due to the concentrating effect of ADH-induced hydric retention in the collecting tubules

    5. (e)

      Normal plasmatic levels of natremia, because the dilutional effect of the ADH action is counterbalanced by a direct stimulatory effect of ADH on distal tubular resorption of the sodium

  • CNS-4 Which of the following statements does NOT belong to Tay-Sachs disease?

    1. (a)

      Mutations in the HEXA gene cause Tay-Sachs disease.

    2. (b)

      It is more common among Ashkenazi Jews than other ethnic groups.

    3. (c)

      It is a lysosomal storage disease.

    4. (d)

      Accumulation of GM2 gangliosides characterizes Tay-Sachs disease.

    5. (e)

      It has an autosomal dominant pattern of inheritance.

  • CNS-5 Match the correct definition of each of the three types of Arnold-Chiari malformation?

    1. (a)

      Chiari type 1

    2. (b)

      Chiari type 2

    3. (c)

      Chiari type 3

    1. 1.

      Isolated protrusion of the cerebellar tissue and hydrocephalus

    2. 2.

      Isolated protrusion of the cerebellar tissue, hydrocephalus, and cranium bifidum with optional encephalocele (protrusion of cerebral tissue)

    3. 3.

      Isolated protrusion of the cerebellar tissue

      (a)(3), (b)(1), (c)(2)

  • CNS-6 A young woman cannot move either the right side of her face or her left extremities. She had right-sided ptosis of the eyelid. The right eye deviated laterally. After light examination, the right eye did not respond and did not show accommodation. Where is the lesion most likely located?

    1. (a)

      Telencephalon

    2. (b)

      Posterior lobes

    3. (c)

      Midbrain

    4. (d)

      Pons

    5. (e)

      Medulla

  • CNS-7 A 2-year-old boy develops acute hemiplegia as a result of an internal carotid artery thrombosis. Which of the following differential diagnosis is NOT appropriate?

    1. (a)

      Periarteritis nodosa

    2. (b)

      Sickle cell anemia

    3. (c)

      Systemic lupus erythematosus

    4. (d)

      Todd paralysis

    5. (e)

      Hemiplegic migraine

    6. (f)

      Bell paralysis

  • CNS-8 A 6-year-old girl received no varicella vaccination and got infected developing full disease. During the recovering time, she develops gait ataxia. The child is examined by the pediatrician and reveals having difficulty reaching for objects due to an intention tremor. The girl is alert and afebrile, does not have meningismus, and has no headache. At the examination, she had deep tendon reflexes, and her plantar responses are flexor. A wide-based gait is noted when she walks and sways while standing still. What is the most likely diagnosis?

    1. (a)

      Reye syndrome

    2. (b)

      Postinfectious encephalomyelitis

    3. (c)

      Varicella encephalitis

    4. (d)

      Ataxia-telangiectasia

    5. (e)

      Guillain-Barré syndrome

  • CNS-9 Medulloblastoma (MB) is one of the most common malignant brain tumors in childhood. Surgical resection, craniospinal irradiation, and adjuvant chemotherapy represent the current standard treatment regimen. There are four molecular subgroups. Which of the following corresponds to the four subgroups?

    1. (a)

      TP53, WNT, sonic hedgehog (SHH), and RET

    2. (b)

      WNT, sonic hedgehog (SHH), Group 3, and Group 4

    3. (c)

      RET, TP53, Frizzled (FRZ), and SHH

    4. (d)

      TP53, WNT, Group 3, and Group 4

  • CNS-10 Spinal muscular atrophies are mostly autosomal recessive disorders with rare occurrences of autosomal dominant and X-linked patterns of inheritance. Match the right presentation with three different types of spinal muscular atrophy.

    1. (a)

      Spinal muscular atrophy, type I (Werdnig-Hoffmann disease)

    2. (b)

      Spinal muscular atrophy, type II

    3. (c)

      Spinal muscular atrophy, type III (Kugelberg Welander disease)

    1. 1.

      The onset of weakness occurs after walking has been established (even in adolescence).

    2. 2.

      The onset of weakness occurs after 4–8 months of age when the child can sit.

    3. 3.

      The onset of weakness occurs at birth or shortly after that.

      (a)(3) (b)(2) (c)(1)

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Sergi, C.M. (2020). Central Nervous System. In: Pathology of Childhood and Adolescence. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-59169-7_15

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