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article · Radiology Case Reports

Association between Cowden syndrome and Lhermitte-Duclos disease: A case report of an uncommon Genetic Hamartomatous Disorder

20231 citationOpen accessMohamed I University

Abstract

The dysplastic gangliocytoma of the cerebellum, also known as Lhermitte-Duclos disease, is an uncommon hamartomatous lesion in the posterior fossa with some distinctive neuroradiological characteristics. It can happen in combination with Cowden syndrome or sporadically. Cowden disease, or multiple hamartoma-neoplasia syndrome, is a rare autosomal dominant condition which is characterized by mucocutaneous lesions and systemic malignancies. We present a case of Lhermitte-Duclos disease and Cowden disease occurring in adult patients. The clinical and radiological features as well as the management approaches of this unusual disease complex are addressed.

Research topics

  • PI3K/AKT/mTOR signaling in cancer
  • Sphingolipid Metabolism and Signaling
  • Genomics, phytochemicals, and oxidative stress

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DOI: 10.1016/j.radcr.2023.05.013

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