Lhermitte-Duclos Disease Associated with Cowden's Disease

Case Report——

Hiroshi YUASA, Takashi MOTOKISHITA, Sumitaka TOKITO, Masayoshi TOKUNAGA*, and Masamichi GOTO**

Departments of Neurosurgery and *Pathology, Kagoshima City Hospital, Kagoshima; **2nd Department of Pathology , Kagoshima University School of Medicine, Kagoshima

Abstract

A 49-year-old Japanese male with Lhermitte-Duclos disease subsequently developed a very rare associa tion with Cowden's disease. Partial tumor removal established the diagnosis of Lhermitte-Duclos dis ease. Follow-up examinations discovered the presence of Cowden's disease. Long-term follow-up of patients with Lhermitte-Duclos disease is essential to identify signs of Cowden's disease, which carries the risk of developing malignancy.

Key words: Lhermitte-Duclos disease, cerebellar tumor, magnetic resonance imaging, polyposis , Cowden's disease

Introduction examination found his head circumference was large, measuring 61 cm. Neurological examination Lhermitte-Duclos disease is a rare disorder of the demonstrated intention tremor, adiadochokinesis, cerebellum characterized by enlarged cerebellar fo and unskillful finger-nose test on the right side. Com lia containing abnormal ganglion cells, first de puted tomography (CT) of the head revealed moder scribed in 1920.10) It usually presents as a cerebellar ate ventriculomegaly and a low density mass in the mass lesion with headaches, ataxia, and visual dis vermis and the right cerebellar hemisphere, which turbances. Cowden's disease was first described in was not enhanced following intravenous administra 1963.11) It is transmitted in an autosomal dominant tion of contrast medium (Fig. 1). The tumor was par pattern and is characterized by multiple hamartoma tially removed on November 16, 1983. The histologi tous neoplasms of ectodermal, mesodermal, and en cal findings indicated Lhermitte-Duclos disease (Fig. dodermal origin.") The simultaneous occurrence of 2). The postoperative course was uneventful with Lhermitte-Duclos disease and Cowden's disease is resolution of the neurological deficits. Radiography rare, with only 12 cases previously report and endoscopy of the alimentary tract for further ed.1,9,15,16,18,20'27-30) We describe a patient with evaluation of the polyposis disclosed multiple polyps Lhermitte-Duclos disease who subsequently devel in the esophagus, stomach, sigmoid colon, and rec oped Cowden's disease. tum. Histological examination of the biopsy speci mens from several polyps in each affected organ Case Report showed all were inflammatory polyps. He was dis charged on December 16, 1983, and followed up as A 49-year-old Japanese male was admitted on an outpatient. November 4, 1983 because of clumsiness of the right Magnetic resonance (MR) imaging on December 1, hand. His past medical history was unremarkable ex 1993 demonstrated a nonenhanced mass in the right cept for polyposis of the esophagus and the stomach cerebellar hemisphere and the vermis appearing as identified at a check-up in September 1982. Physical hypointense on the T1-weighted images and hyperin

Received October 25, 1996; Accepted May 21, 1997 Author's present address: T. Motokishita, M.D., Motokishita Clinic, Kagoshima, Japan. Fig. I Preoperative axial computed tomography showing a low density mass in the vermis and the right cerebellar hemisphere.

tense on the T2-weighted images, and containing linear bands (Fig. 3). Examination on February 16, Fig. 2 Photomicrographs showing an enlarged fo 1994 found he was neurologically intact. However, lia in the cerebellar cortex with a thickened he stated that he had had a tumor removed from his molecular layer, modified granular layer tongue in March 1990 which was reported to be a with abnormal cells, and laminated central fibroepithelial polyp. Physical examination then dis core (upper: HE stain, x 18), and the layer of closed several papules on the dorsal aspects of both hypertrophic neurons (lower: Nissl stain, wrists and hands (Fig. 4) and a polyp on the right x 180). lateral margin of the tongue (Fig. 5). The diagnosis was Cowden's disease in association with Lhermit te-Duclos disease. There was no family history of skin diseases or gastrointestinal polyposis or a brain tumor. One of his sons had undergone surgery for a congenital cyst of the liver at the age of 6 years. When last seen on February 6, 1995, he was neuro logically asymptomatic with no change in the pap ules and the polyp of the tongue. Follow-up CT and MR imaging showed no further growth of the resid ual tumor in the cerebellum.

Discussion

CT shows Lhermitte-Duclos disease as a hypodense to isodense nonenhanced mass in the cerebellum Fig. 3 Postoperative axial T1-weighted magnetic with or without calcifications.3,'-9.12.14-19,22,23,27'28 30 resonance image demonstrating a hypoin MR imaging typically shows a nonenhanced mass tense mass with linear bands in the vermis which is slightly hypointense on the T1-weighted im and the right cerebellar hemisphere (left), ages and hyperintense on the T2-weighted images, and axial T2-weighted magnetic resonance with a characteristic striated pattern image showing a high-signal mass with thought to represent thickened cerebellar linear bands (right). multiple oral papillomas.25) Hamartomas and other system tumors included thyroid tumor (goiter, ade noma, and carcinoma), fibrocystic disease, and car cinoma of the female breast, tumors of the female genitourinary system, and gastrointestinal polyps. Enlarged head circumference was found in 70% of 21 cases. The histological findings of the gastrointes tinal polyp in Cowden's disease are juvenile, lym phomatous, hamartomatous, hyperplastic, inflamma tory, and adenomatous types.') Lhermitte-Duclos disease is frequently associated with megalencephaly, megalocephaly, hydrocepha lus, heterotopia, and hydromyelia, and more rarely with polydactylia, neurofibromatosis, mental retardation, spongioblastoma, multiple hemangio mas, partial gigantism, dysplastic body, metastatic perithelioma, hyperplastic tongue, and seizures.") Familial association in a mother and her son has been reported.') Lhermitte-Duclos disease associated with Cowden's disease has been reported in 12 patients since 1981.1,9,15,16,18,20,27-30)Another patient had Lhermitte-Duclos disease and conditions sugges tive of Cowden's disease.12) The association of the

Fig. 4 Photograph showing several papules on the two diseases may belong to a new phakomatosis dorsal aspects of both wrists and hands. based on the rarity of the two diseases and their simi lar nature.") This hypothesis has been supported by many authors .1,1,11,21-'0)Review of the reported cases of Lhermitte-Duclos disease associated with Cowden's disease suggested that Cowden's disease is a phakomatosis and that Lhermitte-Duclos dis ease may be a part of the phakomatosis or an isolat ed disease.27) Patients with Cowden's disease should undergo clinical and neuroradiological examinations for Lhermitte-Duclos disease and patients with Lhermit te-Duclos disease should be carefully examined and followed up for Cowden's disease because of the associated risk of malignancy.

Acknowledgment

Fig. 5 Photograph showing polyp on the right later We thank Shinichi Nakahara, M.D., Department of al margin of the tongue. Gastroenterology, Kagoshima City Hospital for per forming the radiological examination and en doscopy of the alimentary tract. folia.3,5.11,13,15-18,22.23,26,27,29,30)Surgical resection, with ventricular shunting if necessary, is the treatment of References choice. 4,7,12,14)Diagnostic criteria for Cowden's dis ease have been proposed based on 45 reported 1) Albrecht S, Haber RM, Goodman JC, Duvic M: cases. 21) Our case fulfilled the criteria of oral mucosal Cowden syndrome and Lhermitte-Duclos disease. Cancer 70: 869-876, 1992 papillomatosis and acral keratoses. An extensive re view of 100 cases identified four common 2) Ambler M, Pogacar S, Sidman R: Lhermitte-Duclos disease (granule cell hypertrophy of the cerebellum). mucocutaneous abnormalities providing important Pathological analysis of the first familial cases. 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