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Lhermitte-Duclos disease is a clinical manifestation of Cowden's syndrome

N Vantomme1, F Van Calenbergh, J Goffin

  • 1Department of Neurosurgery, University Hospital Gasthuisberg, Leuven, Belgium.

Surgical Neurology
|October 13, 2001
PubMed

Insights

Lhermitte-Duclos disease (LDD) is often linked to Cowden

Area of Science:

  • Neurology
  • Genetics
  • Oncology

Background:

  • Lhermitte-Duclos disease (LDD) involves hamartomatous overgrowth of cerebellar cells.
  • Cowden's syndrome (CS) is an autosomal dominant disorder with multiple hamartomas and neoplastic lesions.
  • Increasing reports suggest an association between LDD and CS.

Purpose of the Study:

  • To investigate the association between LDD and Cowden's syndrome.
  • To identify clinical findings suggestive of CS in patients with LDD.

Main Methods:

  • Retrospective review of medical records and imaging studies.
  • Analysis of six patients diagnosed with LDD.
  • Screening for additional symptoms indicative of CS.

Main Results:

  • Five out of six LDD patients exhibited mucocutaneous lesions, acral keratosis, thyroid adenoma, fibrocystic disease, ovarian cysts, intestinal polyposis, or arteriovenous malformation.
  • The youngest patient (5-year-old boy) showed no cutaneous or other signs of CS.
  • Clinical findings strongly suggest a link between LDD and CS.

Conclusions:

  • LDD may represent a neurological manifestation of Cowden's syndrome.
  • Comprehensive dermatological and systemic screening is crucial for LDD patients.
  • Early detection of CS-related lesions can prevent malignant transformation.
Abstract

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