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 Co
wden's syndrome (CS), an autosomal dominant condition characterized by mult
iple hamartomas and neoplastic lesions in skin and internal organs, have be
en 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 possi
ble symptoms of CS.
RESULTS Other clinical findings suggestive of CS were apparent in five pati
ents: These included mucocutaneous lesions, acral keratosis, thyroid adenom
a, fibrocystic disease ovarian cyst, intestinal polyposis, and arteriovenou
s malformation. Only in the youngest patient, a 5-year-old boy, were no cut
aneous or other signs found, despite extensive clinical and ultrasound exam
ination.
CONCLUSION Our observations strengthen the hypothesis that LDD is a neurolo
gical manifestion of CS. Patients with LDD should receive a thorough dermat
ological and systemic screening, because some of the lesions (breast, etc..
.) can develop into malignant tumors. (C) 2001 by Elsevier Science Inc.