Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Gangliogliomas represent approximately 0.2% of all the intracranial tumors. Ganglioglioma arising from the cerebellum is rare, with a rate of 1.5-9% of CNS gangliogliomas. The authors report a case of cerebellar ganglioglioma with a huge cyst. A 28-year-old man presented headache and ataxia. Computerized tomography (CT) demonstrated a huge cyst at the vermian region with calcification located at the peripheral side of the cyst. Magnetic resonance imaging (MRI) with administration of Gd-DTPA showed a slightly enhanced small mass at the left side of the cyst. Preoperative diagnosis of the lesion seemed to be a cystic astrocytoma. The tumor was removed subtotally through the midline suboccipital approach. Pathological examination of the tumor specimen revealed a ganglioglioma. The postoperative course was uneventful with no sign of tumor regrowth on repeated MRI. According to the previous 17 reports of cerebellar ganglioglioma including our case, the shorter interval from onset to the diagnosis and clinical symptoms such as increased intracranial pressure were conspicuous as compared with supratentorial ganglioglioma because of the anatomically narrow space of the posterior fossa. Neuroradiological findings showed tumor enhancement in 86% of the cases, calcification in 67%, and cyst formation in 53%.
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PMID:[Cerebellar ganglioglioma associated with a huge cyst: case report]. 1199 73

We present a rare case of an adult patient without seizures who is found to have a ganglioglioma occurring in the cerebellopontine angle. A 52-year-old woman with ataxia, headaches, and falling episodes underwent neuroimaging. Magnetic resonance imaging (MRI) revealed a smooth, somewhat lobulated mass in the left cerebellopontine angle. The mass was hypointense on T1-weighted imaging, hyperintense on T2-weighted imaging, and did not enhance after administration of gadolinium. Left retromastoid craniectomy was performed, and the mass was noted to be exophytic from the brain stem. The exophytic component was resected. Light microscopic findings were consistent with ganglioglioma. This was confirmed with immunohistochemical studies. Ganglioglioma is a rare tumor of the central nervous system that typically presents with seizures in children and young adults. Occurrence of this tumor in the cerebellopontine angle is extremely unusual; this rarity is magnified by its occurrence in an adult patient without a history of seizures. Our case illustrates that ganglioglioma should be considered in the differential diagnosis of cerebellopontine angle masses at any age. This appears to be especially true when dealing with masses that are non-enhancing on imaging.
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PMID:Ganglioglioma in the cerebellopontine angle of an adult without seizures. 1977 36

Ganglioglioma is a rare central nervous system neoplasm representing 0.4% to 1.7% of all brain tumors and most frequently occurs in the pediatric population with an incidence of 7.6%. These tumors are usually slow-growing and well-circumscribed solid or cystic lesions. Gangliogliomatosis infrequently occurs in the frontal lobe, pineal gland, basal ganglia, hypothalamus, and optic chiasm, with very few reports of brainstem ganglioglioma. We report a case of a 35-year-old female who initially presented with headache, vertigo, ataxia, saccadic dysfunction, dysarthria, and dysmetria for several years due to an unknown etiology. Her brain imaging showed multiple lesions in the pons and the cerebellum with cystic changes and size reduction and enlargement over the next few years while her neurological symptoms continued to worsen. The patient received courses of steroid treatment that improved her neurological symptoms, suggesting an inflammatory component of her disease. Extensive workup for an inflammatory or infectious etiology was unfruitful and two brain biopsies were inconclusive. A third biopsy showed atypical glial nuclei, binucleated cells, and Rosenthal fibers and the presence of BRAF V600E mutation was detected. The diagnosis of gangliogliomatosis was consequently established. This case illustrates that gangliogliomatosis may present with the waxing-and-waning neurological signs and symptoms. It can masquerade inflammatory processes in the central nervous system on brain imaging and deserves careful consideration in the diagnosis of patients with an indolent course of neurological deterioration.
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PMID:An enigmatic brainstem posterior fossa ganglioglioma in an adult. 2440 63

Ganglioglioma (GG) is a rare pediatric brain tumor (1-4 %) with neoplastic glial and neuronal cells. Posterior fossa GGs (PF GGs) occur less frequently than supratentorial GGs (ST GGs). The BRAF V600E mutation has been reported in GGs and carries therapeutic implications. We compare the presenting symptoms, magnetic resonance imaging, BRAF V600E mutation status, treatment, and prognosis in children with ST and PF GGs. The neuro-oncology database at a tertiary care Children's Hospital was retrospectively reviewed from 1995 to 2010 for patients with ST and PF GG. All available imaging was reviewed. Symptoms, BRAF V600E mutation status, treatment, and survival data were collected from the electronic medical record and analyzed. Our series consisted of 11 PF GG and 20 ST GG. Children with PF GG presented with ataxia, cranial nerve deficits and long tract signs whereas the majority with ST GGs presented with seizures. On imaging, PF GGs were infiltrative and expansile solid masses with dorsal predominant "paintbrush" enhancement whereas ST GGs were well circumscribed mixed solid and cystic masses with heterogeneous enhancement. Five of 11 (45%) PF GGs and 6 of 9 (67%) ST GGs expressed the BRAF V600E mutation. No unique imaging features were identified in BRAF V600E mutation positive tumors. The majority of ST GGs were treated with surgery alone, whereas the majority of PF GGs required multimodality therapy. PF GGs had worse progression-free survival and a higher mortality rate compared with ST GGs. Unlike ST GGs, PF GGs are expansile, infiltrative, show dorsal predominant "paintbrush" enhancement, are not amenable to gross total resection, and have worse progression-free survival and mortality.
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PMID:Pediatric posterior fossa ganglioglioma: unique MRI features and correlation with BRAF V600E mutation status. 2479 87