Cerebellar Dysplastic Gangliocytoma: Case Report

Lhermitte-Duclos disease (LDD), or cerebellar dysplastic gangliocytoma, is a rare type of cerebellar tumor, from unknown origin. Patients can be asymptomatic for several years, but there are usually imprecise neurological signs for long periods.

A Rare WHO Grade I Lesion of the Posterior Fossa with Recurrence Biological Behavior ­ Dysplastic Gangliocytoma of the Cerebellum: Case Report

Dysplastic gangliocytoma of the cerebellum (DGC) or Lhermitte-Duclos Disease is a rare lesion (World Health Organization [WHO] grade I) characterized by thickened folia and replacement of the internal granular layer by abnormal ganglion cells. More commonly, the compromised patients are young adults presenting ataxia, seizures, obstructive hydrocephalus, and increased intracranial pressure. Dysplastic gangliocytoma of the cerebellum is intimately associated with Cowden syndrome, a hereditary disorder caused by a germline mutation in the PTEN tumor suppressor gene on chromosome 10q23. Large neurons of DCG show vesicular nuclei with prominent nucleoli. Expansion of the internal granular layer determines vacuolization of the molecular layer and white matter, which can be related to the bright stripes identified on T2-weighted magnetic resonance imaging. Herein, the authors report a female patient who developed long- time recurrence of DGC and discuss pathological findings and differential diagnosis of this rare cerebellar lesion.

Metachronic breast and cerebellar neoplasm in a young patient / Neoplasias mamária e cerebelar metacrônicas em uma paciente jovem

Abstract Several factors trigger the development of genetic mutations that are responsible for causing a neoplasm. Medulloblastoma is a malignant and invasive cerebellar neoplasm, that affects children and young adults. Mucinous carcinoma is a special type of breast cancer. Being a special atypical subtype of invasive carcinoma, it most frequently affects women of advanced age and represents 1 to 7% of all breast cancers. The reported case aims to show the rarity of the occurrence of desmoplastic medulloblastoma and mammary mucinous carcinoma in a young patient in a short period of time, in different sites, without direct anatomical attachment and without occurrence of metastasis. Initially, this patient had a desmoplastic medulloblastoma and was treated with lumpectomy and radiotherapy. After 13 months, the patient was diagnosed with a mucinous breast carcinoma, underwent mastectomy, adjuvant chemotherapy and is currently undergoing endocrinotherapy. We conclude, based on the metachronous characteristic of the neoplasia and clinical characteristics, that the patient is likely to have Li-Fraumeni syndrome, an autosomal dominant disease with mutation of the TP53 gene, which is the the main involved. Because the patient does not present all the characteristics of the phenotype of the syndrome, she can thus be classified as having Li-Fraumeni variant or Li-Fraumeni-like syndrome.

Resumo Diversos fatores desencadeiam o desenvolvimento de mutações genéticas que são responsáveis por originar uma neoplasia. O meduloblastoma é uma neoplasia cerebelar maligna e invasiva que acomete crianças e adultos jovens. O carcinoma mucinoso é um tipo de câncer de mama especial por ser um subtipo atípico de carcinoma invasivo, que acomete com maior frequência mulheres de idade avançada e representa entre 1 a 7% do total de neoplasias mamárias. O caso relatado tem como objetivo mostrar a raridade da ocorrência do meduloblastoma desmoplásico e carcinoma mucinoso mamário em uma paciente jovem em um curto período de tempo, em diferentes sítios sem ligação anatômica direta e sem ocorrência de metástase. Inicialmente, esta paciente possuía um meduloblastoma desmoplásico e foi tratada com tumorectomia e radioterapia. Após 13 meses, a paciente foi diagnosticada com carcinoma mucinoso de mama, sendo submetida a mastectomia, quimioterapia adjuvante e atualmente está sendo tratada com endocrinoterapia. Concluímos, com base na característica metacrônica da neoplasia e características clínicas, que a paciente apresenta a síndrome de Li-Fraumeni, doença autossômica dominante com mutação do gene TP53, que é o principal gene envolvido nesta síndrome. Por não apresentar as características completas do fenótipo da síndrome, a paciente pode assim ser classificada como portadora de uma variante da síndorme de Li-Fraumeni ou síndrome do tipo Li-Fraumeni.

Anaplastic large cell lymphoma presenting as a cerebellar mass

Anaplastic large cell lymphoma [ALCL] is a T cell lymphoma occurring commonly in childhood and rarely in adults. Central nervous system involvement in ALCL is very rare and cerebellar involvement at presentation has never been described. We examine the case of a young adult who presented with a cerebellar mass. A 19-year-old boy presented with signs of raised intracranial tension, which, on imaging, revealed a right cerebellar mass. He underwent suboccipital craniotomy and partial excision of the tumor. However, the histopathology was inconclusive. He subsequently presented with cerebellar signs and repeat imaging showed recurrence of the cerebellar lesion. He underwent decompression and ventriculoperitoneal [VP] shunting. Histopathology was suggestive of ALK [anaplastic lymphoma kinase] positive anaplastic large cell lymphoma. The patient was started on chemotherapy. However, his neurological status deteriorated, his condition worsened, and he expired a month later

Infratentorial and Intraparenchymal Subependymoma in the Cerebellum: Case Report

Subependymomas are rare benign tumors located in the ventricular system. Intraparenchymal subependymoma is extremely rare; only 6 cases have been reported, and all were located in the supratentorial region. We describe a case of infratentorial, intraparenchymal subependymoma in a 28-year-old man with intermittent headache. Imaging revealed a well-demarcated cystic and solid cerebellar mass near the fourth ventricle. The mass had a microcystic component and calcification without contrast enhancement. Complete surgical excision was performed, and histopathology confirmed a subependymoma.

Management of posterior fossa medulloblastoma in adults

Medulloblastoma is a malignant tumor of the cerebellum that occurs predominantly in children. It is rare in adults and accounts for less than 1% of all adult primary brain tumors. This study was done to study clinical picture, radiological findings, to evaluate the surgical outcome and to assess the effects of postoperative adjuvant therapy in 12 adult patients who had posterior fossa medulloblastoma This prospective study was carried out on consecutive 12 adult patients who had posterior fossa medulloblastoma. This study was done in Alexandria hospitals over a period of 3 years starting from March 2006 to March 2009. The male to female ratio was 2 to 1[8 males and 4 females] and their ages ranged from 19 to 51 years with mean age of 33, 8 years. Headache was the most frequent symptom [93, 5% of patients]. As regards the clinical presentation, manifestations of increased intracranial pressure was found in 10 patients [83, 3%], cerebellar dysfunction in 8 patients [66, 6%], cranial nerve deficits in half of the cases. The tumour was hemispheric in 10 cases [6 lateral and 4 paramedian] and vermian in 2 cases. All patients had preoperative craniospinal MRI examination. No distant or spinal metastases were detected in our patients at the time of diagnosis. All cases underwent surgery in the form of resection of the tumour followed by postoperative craniospinal irradiation. Also two patients with recurrence and metastases received adjuvant craniospinal radiotherapy and systemic chemotherapy. Mean postoperative follow up period was 24 months, including both clinical and MRI examination. There were no operative mortality, and surgery did not provoke any permanent neurological aggravation. Postoperative MRI studies showed complete tumour resection was achieved in 9 patients [75%]. After initial treatment only two patients relapsed in the posterior fossa after one and half year. Recurrence was probably related to incomplete tumor resection and long delay in initiating radiotherapy [3 months after operation]. Two of the patients that received adjuvant treatment died: one from distant metastasis and one from recurrent disease. Ten patients remained alive and disease-free with Karnofsky performance status ranging from 80 to100. Adult medulloblastoma was predominant in males and the majority of patients had hemispheric cerebellar tumors. Adults are more likely to have heterogeneous cerebellar tumours on MRI, and this is thought to be related to the greater prevalence of desmoplastic variant in adulthood. Long-term survival was not uncommon. The outcome depends on the site of the tumour with better results obtained in cases with lateral hemispherical tumour that facilitate its complete surgical resection and good irradiation planning

Gliosarcoma of the Cerebellar Hemisphere: a Case Report and Review of the Literature

Gliosarcoma is a rare central nervous system tumor usually located in the supratentorial area. Here we report a rare case of a gliosarcoma that developed in the cerebellar hemisphere in a 70-year-old woman. Computed tomography (CT) and magnetic resonance imaging (MRI) of the brain revealed an infratentorial mass of which radiological features were similar to those of glioblastoma. The tumor was diagnosed by pathology as a gliosarcoma. Though rare, gliosarcoma should be considered in the differential diagnosis of infratentorial tumors with radiological features of glioblastoma or metastasis in elderly patients.

Meduloblastoma nodular: achados de imagem de uma rara variante: relato de caso / Medulloblastoma with extensive nodularity: imaging findings of a rare variant: a case report

Meduloblastoma é o tumor maligno do sistema nervoso central mais comum na faixa etária pediátrica, bem como o tumor primário mais comum na fossa posterior em crianças, apresentando-segeralmente entre 5 e 12 anos de idade. O quadro clínico é caracterizado principalmente por hipertensãointracraniana e ataxia. O meduloblastoma nodular, relatado a seguir, é um raro subtipo que acomete crianças mais jovens, habitualmente menores de três anos, porém com melhor prognóstico. Apresenta-se tipicamente como lesão cística em fossa posterior, com componentes sólidosnodulares que realçam ao contraste, agregados em ôcacho de uvaõ. Este achado de imagem pode sugerir o diagnóstico pré-operatório correto.

Medulloblastoma is the most common malignant central nervous system tumor in pediatric patients and the most common primary tumor in the posterior fossa in children, most manifest in patients 5-12 years of age. Clinical features are mainly characterized byintracranial hypertension and ataxia. The authors present a case of medulloblastoma with extensive nodularity, a rare variant which affects younger age usually under three years, with more favorable prognosis. It is typically a cystic lesion in the posterior fossa with solid nodular components that enhance after contrast, like ôbunchof grapesõ clusters. Preoperative diagnosis could be suggested by this finding.

Infarto pseudotumoral del cerebelo / Malignant cerebellar infarction

El diagnóstico de infarto cerebeloso en su presentación inicial puede ser difícil, su reconocimiento tardío puede asociarse a graves complicaciones. Aunque sólo representa 2 por ciento a 3 por ciento de los infartos encefálicos, afecta a un importante número de pacientes, muchos de los cuales son jóvenes. De todos los infartos de cerebelo sólo 10 por ciento evolucionará en forma maligna, siendo denominado infarto pseudotumoral de cerebelo. Las causas más habituales son la embolia, la disección de la arteria vertebral y la aterotrombosis. La arteria cerebelosa póstero-inferior es la más frecuentemente comprometida, y en un tercio de los casos se encuentra una fuente cardioembólica. Su rasgo distintivo es el efecto de masa, el mismo que ocasiona compresión de troncoencéfalo e hidrocefalia aguda, generando un deterioro cuantitativo de conciencia. Las neuroimágenes, tomografía computada y resonancia magnética de encéfalo, son de vital importancia para establecer la presencia de un infarto cerebeloso e identificar potenciales complicaciones. Es importante recordar que la tomografía computada es menos sensible que la resonancia magnética para establecer el diagnóstico. El manejo especializado multidisciplinario y la implementación de las medidas de soporte generales y específicas pueden mejorar las posibilidades de sobrevida y recuperación funcional. Ante la presencia de un deterioro de conciencia, un abordaje quirúrgico agresivo pareciera ser la mejor opción de tratamiento.

The diagnosis of cerebellar infarction at initial presentation can be difficult, delayed recognition can be associated with serious complications. Although representing only 2 percent to 3 percent of brain infarcts, affects a significant number of patients, many of whom are young. Only 10 percent of cerebellar infarcts evolve into malignant form, being named pseudotumoral cerebellar infarction. Common causes include embolism, vertebral artery dissection and atherothrombosis. The postero-inferior cerebellar artery is the most frequently committed, and one third of cases there is a cardioemboIic sourse. Its distinguishing feature is the mass effect, causing brain stem compression and acute hydrocephalus, and generating a quantitative impairment of consciousness. The brain imaging, computed tomography and magnetic resonance imaging of brain, are of vital importance to establish the presence of a cerebellar infarct and identify potential complications. It is important to remember that computed tomography is less sensitive than magnetic resonance for diagnosis. The multidisciplinary specialized management and implementation of measures of general and specific support can improve the chances of survival and functional recovery. In the presence of impaired consciousness, an aggressive surgical approach appears to be the best treatment option.

Vermian metastasis causing truncal ataxia and hydrocephalus as initial presentation of carcinoma stomach.

The common presentation of carcinoma stomach includes haematemesis, malaena and gastric outlet obstruction. Symptoms due to metastases to the liver and lung as part of the disease progression are usually preceded by the detection of a primary in the stomach. Carcinoma stomach, where the primary is silent, and which presents with truncal ataxia and features of hydrocephalus due to isolated metastatic deposit in the cerebellar vermis is exceptionally rare. The prognosis of such patients is poor and the treatment is palliative.

Isolate cerebellar metastasis from colonic adenocarcinoma

The hepatic and pulmonary are the preferential metastasis sites of colorectal cancer. Cerebral metastases are rare to see even exceptional when they are insulated. We report the case of a 47 years old patient having introduced a colic adenocarcinoma treated by surgery and chemotherapy. 18 months later he showed a cerebelleux syndrome with an intracranial hypertension. Cerebral tomodensitometry and magnetic imagery by raisonnance highlighted a double cystic and tissue component lesion of the left cerebellum hemisphere. Pulmonary radiography and abdominal ultrasound were without anomaly. The patient underwent total surgical remove of the lesion. The histology cal study of the operational part had revealed that it acted of a cerebellum metastasis of colic adenocacinoma. As an adjuvant treatment, a whole brain radiation was given with a boost to the posterior cerebral pit. The patient died 20 months after the diagnosis of the metastasis

Cerebellar haemangioblastoma mimicking renal cell carcinoma--a case report.

Haemangioblastoma is a rare benign vascular tumor commonly seen in the cerebellum. There is a striking histologic similarity between cellular variant of haemangioblastoma and metastatic renal cell carcinoma. We present a case of haemangioblastoma in a 32-year-old male. Histology revealed a highly vascular tumor composed of clear cells in a lobular arrangement.