A Rare Co-Existence of Multiple Cerebral Cavernous Malformations and Pleomorphic Adenoma of the Parotid Gland in Myotonic Dystrophy

J Coll Physicians Surg Pak. 2022 Dec;32(12):SS187-SS189. doi: 10.29271/jcpsp.2022.Supp0.SS187.

Abstract

Myotonic dystrophy is an autosomal dominant inherited disorder primarily affecting muscle function. Myotonia, progressive muscle weakness and wasting, and associated systemic involvement, i.e., cataracts, cardiac conduction defects and endocrine abnormalities especially insulin resistance, are the characteristic features. Recent evidence has shown an increased risk of developing benign as well as malignant tumours in such patients. We report a 39-year male of myotonic dystrophy who presented with multiple cerebral cavernous malformations in addition to pleomorphic adenoma of the parotid gland. Though the association of myotonic dystrophy with salivary gland neoplasms has been sparsely documented in the literature, but the co-existence with multiple cerebral cavernous malformations has not been reported so far. Our case is the first of its kind. Key Words: Cerebral cavernous malformations, Myotonic dystrophy, Parotid gland, Pleomorphic adenoma.

Publication types

  • Case Reports

MeSH terms

  • Adenoma, Pleomorphic* / complications
  • Adenoma, Pleomorphic* / pathology
  • Hemangioma, Cavernous, Central Nervous System* / complications
  • Humans
  • Male
  • Myotonic Dystrophy* / complications
  • Myotonic Dystrophy* / pathology
  • Parotid Gland
  • Parotid Neoplasms* / complications
  • Parotid Neoplasms* / pathology