Gangliocytoma Of Cerebellum Research Articles

Lymphoma and uncommon neuroepithelial neoplasms

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. 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. 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.

Cerebellar gangliocytoma presenting with hemifacial spasms: clinical report, literature review and possible mechanisms

Cerebellar lesions have classically been considered not to cause epilepsy. However, previous reports have attributed seizures, beginning as hemifacial spasms to lesions of the cerebellar peduncles. We report an example of paroxysmal facial contractions associated with a cerebellar gangliocytoma. The seizures began on the first day of life and consisted of paroxysmal contractions involving the left orbicularis oculi, often the left forehead and lower facial muscles, sometimes accompanied by nystagmoid eye movements to the right and by head deviation to the left. Video-EEG monitoring showed only artifacts from muscle contractions. Magnetic resonance imaging showed a mass arising from the left superior cerebellar peduncle and partially occupying the fourth ventricle. The lesion was removed subtotally and partial seizure control was achieved. The neuropathological findings were consistent with a gangliocytoma. The literature in the association of cerebellar lesions with hemifacial spasms is reviewed and its possible mechanisms discussed.

Hyperphosphorylation of tau and neurofilaments and activation of CDK5 and ERK1/2 in PTEN-deficient cerebella

Inherited mutations to the tumor suppressor PTEN sporadically lead to cerebellar gangliocytoma characterized by migration defects. This has been modeled by CNS-specific PTEN ablation in mice, but the underlying mechanism cannot be explained by the known role of PTEN in Akt/PKB inactivation. Here we show that the loss of PTEN in mouse cerebellar neurons causes neurodegeneration by hyperphosphorylation of tau and neurofilaments, and activation of Cdk5 and pERK1/2, suggesting that dysregulation of the PTEN/pAkt pathway can mediate neurodegeneration.

Lhermitte-Duclos disease and Cowden's syndrome: Report of two cases

Lhermitte-Duclos disease, or dysplastic cerebellar gangliocytoma is a rare entity characterized by a hamartomatous lesion in the posterior fossa. Cowden's syndrome, or hamartoma-neoplasia syndrome is a rare underdiagnosed autosomal dominant genodermatosis with high incidence of malignant tumors. Several recent reports suggest that Lhermitte-Duclos disease may be a component of Cowden's syndrome. We report two cases of Lhermitte-Duclos and Cowden disease occurring in adult patients. A 40-year-old woman had symptoms of raised intracranial pressure and macrocephaly. She displayed the stigmata of fibrocystic breast disease, thyroid goitre. Clinical examination showed mucocutaneous lesions. Her mother, brother and uncle had manifestations of Cowden's disease. An asymptomatic 38-year-old male had bilateral optic nerve drusen related to a cerebellar neoplasm. He exhibited manifestations of Cowden's syndrome and his familial history confirmed this hypothesis. The first patient was operated on for Lhermitte-Duclos disease. A conservative strategy was performed for the second patient and the clinical and imaging follow-ups were uneventful over 5 years. We stress the possibility that Lhermitte-Duclos and Cowden disease might be a peculiar form of phakomatosis. A conservative strategy can be chosen without neurological signs because of slow tumor growth. However, these patients should be carefully examined and followed up because of the risk of future malignancy.

Lhermitte-Duclos Disease With Cervical Paraspinal Arteriovenous Fistula-Case Report-

A 38-year-old man presented with a dysplastic cerebellar gangliocytoma associated with a paraspinal arteriovenous fistula (AVF) at the upper cervical portion. Neuroimaging examination indicated the diagnosis of Lhermitte-Duclos disease. The patient was treated by embolization of the AVF followed by partial resection of the cerebellar tumor. Genetic examination showed a mutation of the phosphatase and tensin homolog deleted on chromosome ten (PTEN) gene. Histological examination confirmed the diagnosis. Lhermitte-Duclos disease is a rare dysplastic gangliocytoma manifesting as a slowly growing mass in the cerebellum and is usually asymptomatic. This case of Lhermitte-Duclos disease associated with paraspinal AVF and mutation of the PTEN gene suggests a relationship between Lhermitte-Duclos disease and Cowden disease.

Cowden disease and Lhermitte–Duclos disease: an update

Cowden disease is a rare autosomal-dominant phacomatosis and cancer syndrome that is associated with Lhermitte-Duclos disease (LDD), also called dysplastic cerebellar gangliocytoma. In this review the authors summarize the additions to the literature during the past 5 years, with emphasis on new case reports and advances in imaging and molecular biology. Adult-onset LDD is now considered pathognomonic for Cowden disease. Approximately 220 cases of LDD have been reported. Magnetic resonance imaging in patients with LDD is often diagnostic, and imaging studies have facilitated accurate diagnosis and contributed to the improved outcome in affected patients. Cowden disease and other rare, related disorders, such as Bannayan-Riley-Ruvalcaba, Proteus, and Proteus- like syndromes, are often caused by mutations of the PTEN gene. Because of the high incidence of systemic cancer in patients with Cowden disease, it is important for neurosurgeons to recognize the association between this disease and LDD and to refer affected patients for appropriate cancer screenings and interventions.

Medulloblastoma or cerebellar dysplastic gangliocytoma (Lhermitte-Duclos disease)?

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.

Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma): a malformation, hamartoma or neoplasm?

Dysplastic gangliocytoma (Lhermitte-Duclos disease) is a rare disorder, characterized by a slowly progressive unilateral tumour mass of the cerebellar cortex. The fundamental nature of this apparently benign entity and in particular its pathogenesis remain unknown. The debate, whether it represents a neoplastic, malformative or hamartomatous lesion, is still in progress. Lhermitte-Duclos disease was recently encountered to be part of a multiple hamartoma-neoplasia complex (Cowden's syndrome). The present account gives a review of the pertinent literature with emphasize on clinical presentation, radiological findings, surgical procedures, histopathological features and pathogenetic considerations of dysplastic cerebellar gangliocytoma. Dysplastic cerebellar gangliocytoma clusters within the third to fourth decades of life. Cranial nerve palsies, unsteadiness of gait, ataxia and sudden neurological deterioration as a result of occlusive hydrocephalus are frequent signs and symptoms. Associations with other congenital malformations, such as megalencephaly, polydactylia, multiple haemangioma and skull abnormalities are common. Magnetic resonance imaging (MRI) is the diagnostic modality of choice and reveals characteristic non-enhancing gyriform patterns with enlargement of cerebellar folia. Surgery is the therapeutic procedure generally performed and complete resection was attempted in the majority of cases. The histopathological findings of Lhermitte-Duclos disease include widening of the molecular layer, which is occupied by abnormal ganglion cells, absence of the Purkinje cell layer and hypertrophy of the granule cell layer. Dysplastic gangliocytoma of the cerebellum is of benign behaviour and its incidence is extremely rare. The disease should be considered when confronted with a young adult presenting with clinical signs of progressive mass effect in the posterior fossa. The lesion is hypointense on T1- and hyperintense on T2-weighted magnetic resonance images. Recognition of the disease is of particular importance, as the frequent but under-reported coexistence with Cowden syndrome, should prompt thorough clinical and apparative investigation to detect or exclude concomitant malignancies.

Lhermitte-Duclos disease (Dysplastic gangliocytoma of the cerebellum)

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.

Torticollis acquired in late infancy due to a cerebellar gangliocytoma

Torticollis in infancy is a common disorder and is typically benign and self-limiting. However, in some instances it is the presentation of serious disease. A critical distinction is whether the condition is congenital or acquired. We present a case of acquired late infantile torticollis caused by a cerebellar gangliocytoma that underscores the importance of making this determination prior to initiating a treatment plan. A gangliocytoma presenting with torticollis has not been previously described.

Cell kinetic classification of tumors of the nervous system by DNA precursor labeling in vitro

We studied 142 excisional or needle biopsy specimens of nervous system tumors with tritiated thymidine or 5′-bromodeoxyuridine (BrdUrd). Either precursor gave similar results. A labeling index (LI), expressed as a percentage and representing the S-phase fraction, was measured by a microscopic count from stained sections. The in vitro method ranked mean and median LIs of different neoplasms similarly to reported results from the in vivo administration of BrdUrd and reflected clinical aggressiveness of various tumor types. Gliosis, myxopapillary ependymomas, benign meningiomas, neurilemmomas, and pituitary adenomas consistently showed LIs less than 1%. The LI of a cerebellar Lhermitte-Duclos gangliocytoma was zero, indicating the virtual absence of proliferation. Mean LIs and standard deviations of other tumors were as follows: anaplastic astrocytomas, 3.07% ± 2.98%; glioblastoma multiforme, 6.15% ± 5.61%; non-Hodgkin's lymphoma, 12% ± 9.5%; and metastatic neoplasms, 15% ± 8.5%. The survival rate of patients with astrocytic tumors was inversely proportional to the LI. We conclude that the in vitro method is a practical alternative to in vivo BrdUrd administration for measurement of S-phase cells in tumors of the nervous system that gives prognostically useful information. Combination of BrdUrd LI with growth fraction measurement by monoclonal antibodies could offer new insights into brain tumor cell kinetics.

Recurrent dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease) presenting with subarachnoid haemorrhage

A case of dysplastic cerebellar gangliocytoma recurring after 20 years and representing with subarachnoid haemorrhage is described. Evidence in favour of a neoplastic pathogenesis is presented.