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)

Dysembryoplastic neuroepithelial tumor (DNT), a benign neoplasm, is now a well recognized clinicopathological entity. We report the second case of DNT in the cerebellum occurring in a 20-year-old male presenting with ataxia. He also had Arnold-Chiari malformation of the adult type. Histologically the tumor was a "simple" DNT having the specific "glioneuronal" element, namely oligodendrocyte-like cells (OLCs), mucoid change and floating neurons (Purkinje cells). A striking feature was the perpendicular arrangement of the neuropil columns extending from the pial surface to white matter similar to those seen in supratentorial examples. On immunstaining some of the OLCs were positive for synaptophysin and negative for glial fibrillary acidic protein (GFAP), glucocerebroside, tau and MAP-2. The neuropil was synaptophysin-positive and focally positive for MAP-2 and GFAP as well. The Purkinje cells were morphologically normal but malaligned and were positive for phosphorylated neurofilament suggesting secondary dysplastic changes. A transition of the lesion into relatively normal cerebellum preserving the folial architecture was observed. The histological and immunochemical features of the DNT in cerebellum suggests its possible origin from the pluripotential external granular layer.
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PMID:Infratentorial dysembryoplastic neuroepithelial tumor (DNT) associated with Arnold-Chiari malformation. 983 57

Dysembryoplastic neuroepithelial tumor (DNT) is a relatively new nosologic entity. First described in 1988, it is now included in the "neuronal and mixed neuronal-glial tumours" category in the revised 2000 World Health Organization (WHO) Classification of Tumours of the Nervous System. The collective experience of more than 300 reported cases indicates that, with only rare exceptions, DNTs are cerebral cortical lesions. At present, the actual incidence of extracortical DNT is unknown. We describe, the clinicopathologic features of the first tectal DNT. The patient was a 51-year-old man with a 2-month history of pulsatile headaches. On neurologic examination, the only abnormality was gait ataxia. Magnetic resonance imaging (MRI) demonstrated a midbrain tumor involving the tectum. It was hypointense on T1-weighted images and featured an iso- to hyperintense nodule at its center. The nodule showed enhancement upon contrast administration. No aqueductal obstruction or intraventricular extension of tumor was detected. The tumor was approached supratentorially and removed completely. The mucoid tumor was well demarcated from neural tissue. Histopathologically, it was a typical DNT, exhibiting a nodular pattern of growth with a "specific glioneuronal component." This case report documents the first DNT to arise in the midbrain tectum and focuses on the problem of diagnosing this uncommon tumor at extracortical sites.
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PMID:Dysembryoplastic neuroepithelial tumor of the midbrain tectum: a case report. 1262 40