Bilateral Recurrent Dysplastic Cerebellar Gangliocytoma (Lhermitte Duclos Disease) in Cowden Syndrome: A Case Report and Literature Review.

Abstract

BACKGROUND\nDysplastic gangliocytoma (Lhermitte-Duclos disease, LDD) typically presents as a PTEN-positive, insidious unilateral mass of the cerebellar cortex. Patients may present with symptoms of increased intracranial pressure. MRI reveals a characteristic laminar/tigroid appearance. Surgical management is superior to conservative measures for symptomatic lesions. Outcomes for bilateral craniotomy are undescribed.\n\n\nCASE DESCRIPTION\nA 50-year-old patient with Cowden syndrome initially presented with vertigo and imbalance. T2-weighted MRI showed a striated pattern of hypo- and hyperintensity in bilateral cerebellar hemispheres consistent with Lhermitte-Duclos disease. He underwent right posterior fossa craniotomy for near total surgical resection and achieved symptom resolution. After three years, asymptomatic recurrence of the right-sided LDD and progression of left-sided LDD were noted, which were managed with a one-year course of temozolomide. Both lesions remained stable until four years after completing temozolomide. MRI demonstrated progression in the left hemisphere requiring a second surgical resection. PTEN analysis of the resected lesion was negative for mutation.\n\n\nCONCLUSIONS\nTo our knowledge, this is the first reported case of bilateral cerebellar hemisphere LDD ultimately managed by temporally dissociated bilateral surgical resections. Our patient is unique in that he underwent surgery for resection of LDD, followed by a second surgery for contralateral progression eight years later. Therapeutic options to prevent recurrence are limited, although temozolomide did seem to impede progression. Symptomatic cases typically benefit most from surgical intervention. Given the strong association between adult LDD and Cowden syndrome, maintaining close follow-up care and possible surveillance imaging is essential.