Lhermitte-Duclos disease (Dysplastic gangliocytoma of the cerebellum)

Objective: Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos dis ease) is a rare hamartomatous lesion of, the cerebellar cortex. The pathoge nesis of the disease is still poorly understood. Lhermitte-Duclos disease w as recently considered to be part of a multiple hamartoma-neoplasia syndrom e (Cowden disease). We add two further cases to this rare entity. Patients: A 24-year old woman presented with occipital headaches, blurred vision, di plopia and ataxia of gait. Physical examination revealed turricephaly. The second patient was a 37-year old woman, who presented with progressive occi pital headache with nausea and vomiting. Physical examination revealed cong enital facial asymmetry. Computed tomography and NMR-imaging, respectively demonstrated a space occupying mass of a cerebellar hemisphere in both case s. Results: Suboccipital craniotomy and complete removal of the infratentor ial tumour were performed in both patients. Histopathological findings clin ched the diagnosis of Lhermitte-Duclos disease. Postoperative course was un eventful in the first and complicated by progressive occlusive hydrocephalu s in the second patient, necessitating permanent surgical shunt drainage. B oth patients were discharged free of complaints. Conclusions: Dysplastic ce rebellar gangliocytoma is commonly associated with progressive mass effects in the posterior fossa and typically presents with headaches, cerebellar d ysfunction, occlusive hydrocephalus and cranial nerve palsies. The disease usually manifests in young adults, but the age at presentation ranges from birth to the sixth decade. There is no sex predilection. NMR-imaging became a useful clue to the diagnosis within the last decade. Therapy consists of decompression of the posterior fossa by total surgical removal of the tumo ur mass. (C) 2001 Elsevier Science B.V. All rights reserved.