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

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.

Automated summary

Myotonic dystrophy is an autosomal dominant inherited disorder that primarily affects muscle function, characterized by myotonia, progressive muscle weakness and wasting, and associated systemic involvement. Recent evidence has shown an increased risk of developing both benign and malignant tumors in patients with myotonic dystrophy. This article reports the case of a 39-year-old male with myotonic dystrophy who presented with multiple cerebral cavernous malformations in addition to a pleomorphic adenoma of the parotid gland. This is the first reported case of the coexistence of myotonic dystrophy with multiple cerebral cavernous malformations.