Lhermitte–Duclos disease associated with Cowden’s syndrome: Case report and literature review

Abstract

Lhermitte-Duclos disease (LDD) is a rare entity that may occur in the setting of Cowden's syndrome (CS). Accurate preoperative diagnosis can be made on the characteristic CT and MR appearances, thereby obviating the need for biopsy. It is important to be aware of the link between LDD and CS so that appropriate genetic counselling and tumour surveillance can be undertaken.

Lhermitte‐Duclos Disease: Case Report

“…Nagaraja et al have estimated that in 40% of cases of LDD, a diagnosis of CS is also made 8 . Some authors hypothesized that LDD and CS may represent a single phakomatosis with a genetic determination 9 …”

“…CS is a rare autosomal dominant disorder characterized by multiple hamartomas of ectodermal, endodermal, and mesodermal origin. An increased frequency of hamartoma and neoplasia in the breast, thyroid, colon, and genitourinary and central nervous systems has been reported 2,9,10 . Most important, CS significantly predisposes these patients to multiple malignancies including breast adenocarcinoma; thus, surveillance for these conditions in LDD patients is essential 9 …”

“…8 Some authors hypothesized that LDD and CS may represent a single phakomatosis with a genetic determination. 9 CS is a rare autosomal dominant disorder characterized by multiple hamartomas of ectodermal, endodermal, and mesodermal origin. An increased frequency of hamartoma and neoplasia in the breast, thyroid, colon, and genitourinary and central nervous systems has been reported.…”

“…An increased frequency of hamartoma and neoplasia in the breast, thyroid, colon, and genitourinary and central nervous systems has been reported. 2,9,10 Most important, CS significantly predisposes these patients to multiple malignancies including breast adenocarcinoma; thus, surveillance for these conditions in LDD patients is essential. 9 Dysplastic gangliocytomas are typically unilateral lesions that asymmetrically expand a cerebellar hemisphere.…”

Lhermitte‐duclos disease associated with neurofibromatosis type‐1 and non‐ossifying fibroma

“…The diagnosis of LDD is usually based on its characteristic computed tomography (CT) and magnetic resonance image (MRI) appearance. MRI usually reveals a characteristic striated pattern with enlargement of the cerebellar folia (5,7).…”