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Background Dysplastic gangliocytoma (Lhermitte-Duclos disease [LDD]) typically presents as a PTEN (phosphatase and tensin homolog)-positive, insidious unilateral mass of the cerebellar cortex. Patients can present with symptoms of increased intracranial pressure. Magnetic resonance imaging (MRI) will reveal a characteristic laminar/tigroid appearance. Surgical management has been superior to conservative measures for symptomatic lesions. The outcomes for bilateral craniotomy have not yet been described. Case Description A 50-year-old patient with Cowden syndrome had initially presented with vertigo and imbalance. T2-weighted MRI showed a striated pattern of hypointensity and hyperintensity in bilateral cerebellar hemispheres consistent with Lhermitte-Duclos disease. He underwent right posterior fossa craniotomy with near total surgical resection and achieved symptom resolution. However, 3 years later, asymptomatic recurrence of the right-sided LDD and progression of left-sided LDD were noted. These were managed with a 1-year course of temozolomide. Both lesions remained stable until 4 years after completion of temozolomide. MRI demonstrated progression in the left hemisphere requiring a second surgical resection. PTEN analysis of the resected lesion was negative for mutation. Conclusions To the best of our knowledge, the present case is the first reported case of bilateral cerebellar hemisphere LDD ultimately managed by temporally dissociated bilateral surgical resections. Our patient was unique in that he had undergone surgery for resection of LDD, followed by a second surgery for contralateral progression 8 years later. The therapeutic options to prevent recurrence are limited, although temozolomide did seem to impede progression. Symptomatic patients will 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 will be essential.

ResumenLa enfermedad de Lhermitte-Duclos o gangliocitoma displásico cerebeloso es una entidad infrecuente que se presenta como un proceso expansivo de la fosa posterior, de lento crecimiento y patogenia desconocida. Puede estar asociada a otras anomalías congénitas.Presentamos el caso de un gangliocitoma displásico de cerebelo en un paciente de sexo mascu lino, de 77 años de edad, con antecedentes de adenocarcinoma prostático, que fue estudiado por tomografía computada (TC) y resonancia magnética (RM). Los hallazgos característicos, junto con una evaluación neuroquirúrgica y un manejo apropiados, permitieron efectuar el diagnóstico preoperatorio sin necesidad de recurrir a exámenes histopatológicos.AbstractThe Lhermitte-Duclos disease or dysplastic cerebellar gangliocytoma is an uncommon disorder that presents as an expansive, slow growing process of the posterior fossa, of unknown pathogenesis, that may be associated with other congenital anomalies.A case is presented of a dysplastic cerebellar gangliocytoma in a 77 year-old male patient, with a history of prostatic adenocarcinoma. A study was made using Computed Tomography (CT) and Magnetic Resonance (MRI), where the characteristic findings enabled a preoperative diagnosis to be made without need for histopathological examination, in addition to a neurosurgical evaluation and appropriate management.

We describe a patient with dysplastic cerebellar gangliocytoma (Lhermitte–Duclos disease) who presented with an acute onset of positional disequilibrium. Video-oculography in the right Hallpike position revealed rightward torsional down-beat nystagmus, initially thought to be right anterior canal benign positional vertigo. However, the presence of spontaneous nystagmus, the persistent character of the positional nystagmus and the absence of fatigability indicated central positional nystagmus, attributable to his right-sided Lhermitte–Duclos disease. These findings emphasise the need for clinicians to reconsider a central cause before diagnosing the rare anterior canal benign positioning vertigo variant.

Resume La maladie de Lhermitte-Duclos, appelee encore « gangliocytome dysplasique cerebelleux », est une entite rare, caracterisee par une lesion hamartomateuse en fosse posterieure. Le syndrome de Cowden, ou « syndrome des neoplasies-hamartomes », rare et sous-diagnostique, est une genodermatose autosomique dominante, avec haute incidence de tumeurs malignes. Plusieurs cas cliniques recents montrent que la maladie de Lhermitte-Duclos peut s’integrer dans le cadre d’un syndrome de Cowden. Les auteurs rapportent deux cas de maladie de Lhermite-Duclos avec syndrome de Cowden chez des patients adultes. Le premier cas est celui d’une femme de 40 ans, qui presentait une hypertension intracrânienne avec macrocephalie, une dysplasie fibrokystique de sein ainsi qu’un goitre thyroidien ; l’examen clinique montrait des lesions cutaneo-muqueuses ; sa mere, son pere et un oncle avaient des manifestations de syndrome de Cowden. Le second cas est celui d’un homme de 38 ans, qui avait un œdeme papillaire en relation avec une tumeur cerebelleuse ; il avait des antecedents entrant dans le cadre d’un syndrome de Cowden et son histoire familiale confirmait cette hypothese. Le premier patient etait opere pour sa maladie de Lhermitte-Duclos. Une attitude de surveillance etait envisagee pour le second, avec un recul clinique et radiologique tout a fait stables de plus de 7 ans. Nous pensons que la maladie de Lhermitte-Duclos et le syndrome de Cowden constituent un type de phacomatose. Une attitude expectative peut etre envisageable en raison du faible potentiel evolutif de croissance tumorale. Cependant, ces patients doivent etre examines avec attention en raison du risque de degenerescence tumorale maligne.

Lhermitte-Duclos disease (LDD), or dysplastic gangliocytoma of the cerebellum, is an unusual hamartomatous overgrowth disorder. LDD can be familial or, more commonly, sporadic. It has been only recently recognized that LDD may be associated with Cowden syndrome (CS). Over 80% of patients with CS carry germline mutations in PTEN. It remains unclear whether all cases of LDD, even without features of CS, are caused by germline PTEN mutation and whether somatic PTEN mutation occurs in sporadic LDD. We obtained paraffin-embedded LDD lesions from 18 unselected, unrelated patients and performed mutational analysis of PTEN. Overall, 15 (83%) of 18 samples were found to carry a PTEN mutation. All individuals with mutations were adult-onset patients, but the three without mutations were diagnosed at the ages of 1, 3, and 11 years. Germline DNA was available from six adult-onset cases, and all had germline PTEN mutations. Of these six, two had CS features, one did not have CS features, and three were of unknown CS status. Immunohistochemistry revealed that 75% of the LDD samples had complete or partial loss of PTEN expression accompanied by elevated phosphorylated Akt, specifically in the dysplastic gangliocytoma cells. These data suggest that the loss of PTEN function is sufficient to cause LDD. The high frequency and spectrum of germline PTEN mutations in patients ascertaining by LDD alone confirm that LDD is an important defining feature of CS. Individuals with LDD, even without apparent CS features, should be counseled as in CS.

Objective: Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) is a rare hamartomatous lesion of the cerebellar cortex. The pathogenesis of the disease is still poorly understood. Lhermitte-Duclos disease was recently considered to be part of a multiple hamartoma-neoplasia syndrome (Cowden disease). We add two further cases to this rare entity. Patients: A 24-year old woman presented with occipital headaches, blurred vision, diplopia and ataxia of gait. Physical examination revealed turricephaly. The second patient was a 37-year old woman, who presented with progressive occipital headache with nausea and vomiting. Physical examination revealed congenital facial asymmetry. Computed tomography and NMR-imaging, respectively demonstrated a space occupying mass of a cerebellar hemisphere in both cases. Results: Suboccipital craniotomy and complete removal of the infratentorial tumour were performed in both patients. Histopathological findings clinched the diagnosis of Lhermitte-Duclos disease. Postoperative course was uneventful in the first and complicated by progressive occlusive hydrocephalus in the second patient, necessitating permanent surgical shunt drainage. Both patients were discharged free of complaints. Conclusions: Dysplastic cerebellar gangliocytoma is commonly associated with progressive mass effects in the posterior fossa and typically presents with headaches, cerebellar dysfunction, 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 tumour mass.

Dysplastic cerebellar gangliocytoma is a rare benign tumor associated with specific neuroimaging findings of abnormal laminated or folial pattern in the posterior fossa. Some authors thus proposed that it could be diagnosed by neuroimaging studies alone. We encountered a patient with medulloblastoma in which the neuroimaging findings mimicked those of dysplastic gangliocytoma. In patients with a posterior fossa tumor suggestive of a dysplastic gangliocytoma on neuroimaging studies, a pathologic confirmation is necessary.

Objectifs Understand the pathologic-radiologic correlation of CNS Iymphoma. Recognize common imaging manifestations of CNS lymphoma that suggest the diagnosis. Identify the broad spectrum of peripheral neoplasms on imaging studies and their correlation with seizure activity clinically. Points cles CNS lymphoma is characterized by a periventricular location, hyperattenuation on CT, and T2 hypointensity on MRI. Peripheral brain neoplasms are commonly affiliated with seizure activity. Low-grade brain neoplasms usually have little or no vasogenic edema and may or may not enhance. Common tumors that have a preferential peripheral location without surrounding vasogenic edema include ganglioglioma, dysembryoplastic neuroepithelial tumor, oligodendroglioma, and oligoastrocytoma. The presence of a striated cerebellar lesion on MRI is typical for dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease). Large heterogeneous peripheral neoplasms characterized by a meningocerebral interface and relative lack of vasogenic edema include desmoplastic infantile gangliocytoma/astrocytoma and pleomorphic xanthoastrocytoma. Aggressive large heterogeneous masses in young children with surrounding vasogenic edema and intense but heterogeneous enhancement include supratentorial primitive neuroectodermal tumor and atypical teratoid/rhabdoid tumor. Resume Undergoing a dramatic increase in prevalence during the past 3 decades, lymphoma is now the fourth most common primary central nervous system (CNS) neoplasm. The imaging findings are directly related to its gross and histologic pathology. Because of a dense packing of usually B-cell lymphocytes, CNS lymphoma characteristically demonstrates hyperattenuation on computed tomography (CT) and T2 hypointensity on magnetic resonance (MR) imaging within masses that usually periventricular in location. Virtually all of the lesions show at least some enhancement on post-contrast imaging. Involvement of the leptomeninges is also common. In the immunocompromised host, the imaging appearance is modified because of increased rates of necrosis, producing ring-enhancing masses. CNS lymphoma is the second most common cause of an intracranial mass in an adult immunocompromised patient and differentiation from toxoplasmosis may be facilitated by metabolic imaging or MR spectroscopy. Other peripheral tumors will be emphasized : ganglioglioma, desmoplastic infantile ganglioglioma, dysplastic cerebellar gangliocytoma, dysembryoplastic neuroepithelial tumor, pleomorphic xanthoastrocytoma, and supratentorial primitive neuroectodermal tumor and their correlation with seizure activity will be shown.