Neurology: Case of the Month

Test Yourself — Patient 59

Joubert syndrome

  1. Which of the following statements about neonatal tachypnea is FALSE?
    • [ A ] Emergency evaluation of neonatal tachypnea should include neurologic examination.
    • [ B ] Salicylate intoxication should be considered in the neonate presenting with tachypnea.
    • [ C ] Absence of a family history of neurologic disease does not rule out the possibility of an inherited neurologic disorder.
    • [ D ] Neonatal tachypnea is unlikely to result from seizure activity if tonic-clonic activity cannot be demonstrated.
  2. Signs of dysfunction of midline cerebellar structures include WHICH of the following:
    • [ A ] Axial hypotonia
    • [ B ] Internuclear ophthalmoplegia
    • [ C ] Ocular dysmetria
    • [ D ] Dysphonia
    • [ E ] A and C
    • [ F ] B and D
  3. Maldevelopment of the cerebellar vermis is NOT characteristic of which of the following syndromes?
    • [ A ] Joubert syndrome
    • [ B ] Dandy-Walker syndrome
    • [ C ] Chiari I malformation
  4. Cerebellar maldevelopment may be associated with abnormalities in all of the following structures EXCEPT:
    • [ A ] Eye
    • [ B ] Kidney
    • [ C ] Liver
    • [ D ] Cerebrum
    • [ E ] All of the above may be affected
  5. Which of the following statements about the distinction between Joubert syndrome and the Dandy-Walker syndrome are FALSE?
    • [ A ] Hydrocephalus is uncommon in the Dandy-Walker syndrome.
    • [ B ] Both syndromes may exhibit dysgenesis of the cerebellar vermis.
    • [ C ] Widening of the interpeduncular fossa is typical of the Joubert syndrome.
    • [ D ] Upward displacement of the tentorium is frequent in Dandy-Walker syndrome.
    • [ E ] The radiographic "molar tooth" sign is best appreciated on axial MRI images.

 

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