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Lhermitte duclos disease and Cowden disease: clinical, pathological and neuroimaging study of a case

F Barone1, B A Noubari, A Torrisi

  • 1Division of Neurosurgery, Azienda Ospedaliera di Rilievo Nazionale Garibaldi, Ascoli-Tomaselli, S. Luigi-S. Curro, Catania, Italy.

Journal of Neurosurgical Sciences
|May 1, 2001
PubMed

Insights

Lhermitte-Duclos disease and Cowden disease may be a single phakomatosis. Patients with Lhermitte-Duclos disease require screening for Cowden disease

Area of Science:

  • Neurology
  • Oncology
  • Genetics

Background:

  • Lhermitte-Duclos disease (LDD) is a rare condition characterized by dysplastic gangliomatosis of the cerebellum.
  • Cowden disease (CD) is a genetic disorder associated with an increased risk of cancer and hamartoma development.

Observation:

  • A 26-year-old female presented with symptoms consistent with LDD.
  • Preoperative magnetic resonance imaging (MRI) facilitated accurate diagnosis.
  • Pathological examination confirmed the diagnosis of LDD.

Findings:

  • The case suggests a potential link between LDD and CD, proposing they may represent a single phakomatosis.
  • The patient was diagnosed with both LDD and CD.

Implications:

  • Screening for CD in patients diagnosed with LDD is recommended.
  • Early detection of CD-related lesions can improve patient outcomes.
  • Further research is warranted to elucidate the relationship between LDD and CD.

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