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L-2-hydroxyglutaric aciduria
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
A brain tumor (an ependymoma) was found in a 17-year-old boy with L-2-hydroxyglutaric aciduria, and seven other patients have been identified with brain tumors, suggesting an increased risk [18, 19]. The observed malignancies varied in type and included astrocytoma, primitive neuroectodermal tumors, medulloblastoma, and oligodendroglioma. Localization was supratentorial in all cases. Diffuse gliomatosis cerebri affecting both cerebral hemispheres and upper brainstem was reported in an adult [19].
Perfusion Imaging: Physical Principles and Applications in the Brain
Published in Andrei I. Holodny, Functional Neuroimaging, 2019
The prediction of tumor biology using perfusion MRI has a number of caveats. Generally, HGGs exhibit higher rCBV and Ktrans; however, pilocytic astocytomas (JPA), which are designated as WHO grade I tumors can also have high rCBV and mimic HGGs (50), particularly if the enhancing nodule is sampled. Gliomatosis cerebri is characterized by involvement of at least two lobes of the brain by a glial cell tumor of neuroepithelial origin with relative preservation of neuronal architecture (51). Gliomatosis cerebri, which refers to the contiguous involvement of different regions of the brain must be differentiated from multicentric glioma that is defined as multiple foci of tumor in different sites. Histopathologically, there is a lack of vascular hyperplasia in gliomatosis cerebri, which results in the relatively low rCBV measurements, mean 1.02 ± 0.42 (52). Normal Cho, elevated myo-Inositol, and decreased (N-acetylaspartate has also been demonstrated with MR spectroscopy (MRS) in gliomatosis cerebri (53). The combination of these spectroscopy findings and reduced perfusion suggests that gliomatosis cerebri can be differentiated from high-grade multicentric glioma.
Neuro-Oncology
Published in John W. Scadding, Nicholas A. Losseff, Clinical Neurology, 2011
Gliomatosis cerebri is an unusual manifestation of glioma characterized by extensive involvement of at least three lobes of the brain by glial cell neoplastic proliferation (Figure 14.4). It is most common in middle age, often with delayed presentation due to variable features and lack of localizing neurological signs. It may be low or high grade, and a biopsy is required for diagnosis. It is usually too extensive for surgical treatment, and is managed by large radiation fields and temozolomide chemotherapy.
Lymphomatosis cerebri with cauda equina lymphoma
Published in International Journal of Neuroscience, 2021
Gang Deng, Ran Tao, Dai-Shi Tian, Jun-Li Liu
Because gliomatosis cerebri and lymphomatosis cerebri were suspected, magnetic resonance spectroscopy was indicated, and an increase in the Cho peak and depressed NAA peak in the focal zone was apparent (Figure 2A). The Cho/NAA ratio was increased. Flow cytometry of the CSF revealed a total of 4530 cells, approximately 11.1% of which were suspected to be monoclonal abnormally mature B-lymphocytes. Whole‐body fluorodeoxyglucose positron emission tomography/computed tomography (FDG‐PET/CT) indicated locally increased metabolism in the cauda equina and no other regions; no other with abnormally increased metabolism was found (Figure 2B). Later, plain and contrast-enhanced MRI of the lumbar spine indicated patchy abnormal signals in the spinal canal at L2 with strong enhancement (Figure 3A). The cauda equina at S1 was thickened, with nodular enhancement and malignancy suspected. Lumbar puncture was performed for a second time. CSF cytology revealed a few nucleated cells with obscure structure, irregular morphology, and large cell bodies under microscopy (Figure 3B). Flow cytometry of the CSF revealed that 5% was monoclonal abnormally mature B-lymphocytes. Second-generation sequencing of the CSF revealed the following: a nonsense mutation in exon 4 of the PIM1 gene (c.418C→T, p.Q140*), and this gene was a proto-oncogene. This mutation is the driving mutation causing DLBCL; missense mutation in exon 2 of the MYC gene, with unclear pathogenic significance. Peripheral lymphoma was excluded by negative bone marrow puncture plus biopsy. PCNSL was highly suspected. Accordingly, she later underwent stereotactic aspiration of brain tissues, which revealed infiltration by a few heteromorphous lymphocytes near the small vessels (Figure 3C), thus confirming the diagnosis of PCNSL.