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)

BACKGROUND: The simultaneous occurrence of cerebellopontine angle (CPA) meningioma and vestibular schwannoma (VS) in the absence of neurofibromatosis type 2 or history of irradiation is very rare. We report a case with coexistent CPA meningioma and VS, which were radiologically not distinguishable in preoperative imaging. CASE DESCRIPTION: A 46-year-old female presented with acute hearing loss, tinnitus and gait ataxia. Otorhinolaryngological diagnostic workup and imaging studies showed an intra- and extrameatal homogenous contrast enhancing lesion. The neuroradiological diagnosis was VS. The patient was operated via the retrosigmoid approach. INTRAOPERATIVELY TWO DISTINCT TUMORS WERE FOUND: a small, mainly intrameatally located VS and a larger meningioma originating from the dura of the petrous bone. Both tumors were completely microsurgically removed. The patient experienced no new neurological deficit after surgery; particularly facial nerve function was completely preserved. Histopathological examination revealed a fibromatous meningioma and a VS, respectively. CONCLUSIONS: The coincidental occurrence of CPA meningioma and VS is very rare. Careful interpretation of imaging studies before surgery is crucial. Even such rare cases should be kept in mind when discussing the therapeutic options with the patient. More studies are needed for a better understanding of mechanisms leading to multiple tumor growth.
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PMID:A Rare Case of Radiologically Not Distinguishable Coexistent Meningioma and Vestibular Schwannoma in the Cerebellopontine Angle - Case Report and Literature Review. 2104 38

Only a handful of cases of de-novo malignancies of the vestibulocochlear nerve have been reported. Even rarer is the malignant transformation of a previously histologically diagnosed benign vestibular schwannoma. We present the case of a young adult who had combined operative/Gamma knife treatment for a benign vestibular schwannoma, followed by further surgery 2 years later. He represented 10 years after original diagnosis with facial numbness and ataxia, MRI showing gross tumor recurrence. After radical resection, histology showed malignant transformation to a malignant peripheral nerve sheath tumor. Within 3 months there was rapid, aggressive recurrence with brainstem compression, requiring further surgery for brainstem decompression. Histology confirmed further de-differentiation to an anaplastic sarcoma. While awaiting radiotherapy the tumor recurred again, the patient succumbing. The patient had no features of neurofibromatosis type 2. In the literature there are 13 other cases of malignant vestibular schwannomata. Only six had radiotherapy and of these only two had histological confirmation of a benign lesion preradiotherapy. Neither of these had neurofibromatosis. Three other cases had histological proof of malignancy postradiosurgery, but with no preradiotherapy histology; of these, two were positive for neurofibromatosis. The tumor biology of vestibular schwannomata as well as the radiobiology in the context of malignant transformation is discussed.
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PMID:Malignant transformation of acoustic neuroma/vestibular schwannoma 10 years after gamma knife stereotactic radiosurgery. 2135 5

Neurofibromatosis type 2 (NF2) is a genetically inherited disorder characterized by the presence of multiple central nervous system tumours, most pathognomonic being bilateral vestibular schwannomas with or without peripheral manifestations in the form of cataract or cutaneous neurofibromas. NF2 is an uncommon disorder compared to NF1. We describe a classical case of neurofibromatosis type 2 with florid clinical manifestations and characteristic neuroimaging features. We also briefly describe the literature pertaining to this rare disorder. The case also emphasizes the fact that NF2 should be considered in the list of differentials for ataxia especially when it is associated with sensory neural hearing loss.
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PMID:Ataxia in a Young Female. 2879 19