Myotonic dystrophy with alveolar hypoventilation and hypersomnia: a clinicopathological study

J Neurol Sci. 1995 Feb;128(2):225-31. doi: 10.1016/0022-510x(94)00244-i.

Abstract

We present a case of myotonic dystrophy accompanied by alveolar hypoventilation and hypersomnia. Case history, pulmonary function tests, polygraphic recording, and multiple sleep latency test, concomitant with a restrictive ventilatory abnormality, suggested a central origin of alveolar hypoventilation and hypersomnia in our case. The most significant neuropathological findings were in the tegmentum of the brain stem. Severe neuronal loss and gliosis were observed in the midbrain and pontine raphe, particularly in dorsal raphe nucleus and superior central nucleus. Pontine and medullary reticular formation also showed a marked cell loss and fibrillary gliosis. The alveolar hypoventilation and the hypersomnia in our case may be attributed to these morphological abnormalities, and would appear to be central in nature.

Publication types

  • Case Reports

MeSH terms

  • Disorders of Excessive Somnolence / etiology*
  • Fatal Outcome
  • Female
  • Humans
  • Hypoventilation / etiology*
  • Hypoventilation / pathology
  • Middle Aged
  • Myotonic Dystrophy / complications*
  • Myotonic Dystrophy / pathology
  • Polysomnography
  • Raphe Nuclei / pathology
  • Respiratory Function Tests
  • Reticular Formation / pathology
  • Tegmentum Mesencephali / pathology