title: Lhermitte-Duclos disease is a clinical manifestation of Cowden's syndrome.
abstract: BACKGROUND
  Lhermitte-Duclos disease (LDD) is a hamartomatous overgrowth of cerebellar ganglion cells, which replace granular cells and Purkinje cells. In recent years several cases involving the association between LDD and Cowden's syndrome (CS), an autosomal dominant condition characterized by multiple hamartomas and neoplastic lesions in skin and internal organs, have been reported.
  
  
  METHODS
  We reviewed the medical records and imaging studies of six patients with LDD who were treated at our institution, and we looked at other possible symptoms of CS.
  
  
  RESULTS
  Other clinical findings suggestive of CS were apparent in five patients: These included mucocutaneous lesions, acral keratosis, thyroid adenoma, fibrocystic disease, ovarian cyst, intestinal polyposis, and arteriovenous malformation. Only in the youngest patient, a 5-year-old boy, were no cutaneous or other signs found, despite extensive clinical and ultrasound examination.
  
  
  CONCLUSIONS
  Our observations strengthen the hypothesis that LDD is a neurological manifestation of CS. Patients with LDD should receive a thorough dermatological and systemic screening, because some of the lesions (breast, etc...) can develop into malignant tumors.
authors.affiliation: Department of Neurosurgery, University Hospital Gasthuisberg, Leuven, Belgium.
authors.forename: N
authors.initials: N
authors.lastname: Vantomme
authors.forename: F
authors.initials: F
authors.lastname: Van Calenbergh
authors.forename: J
authors.initials: J
authors.lastname: Goffin
authors.forename: R
authors.initials: R
authors.lastname: Sciot
authors.forename: P
authors.initials: P
authors.lastname: Demaerel
authors.forename: C
authors.initials: C
authors.lastname: Plets
mesh_terms: D000293:Adolescent; D000328:Adult; D002528:Cerebellar Neoplasms / Q000209:etiology* / Q000473:pathology / Q000503:physiopathology; D002675:Child, Preschool; D005260:Female; D018303:Ganglioglioma / Q000209:etiology* / Q000473:pathology / Q000503:physiopathology; D006223:Hamartoma Syndrome, Multiple / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D008297:Male; D008875:Middle Aged