Evolution of white matter lesions in neurofibromatosis type 1: MR findings.

Sevick, Robert J.; Barkovich, A. J.; Edwards, Michael S. B.; Koch, Thomas; Berg, Bruno C. Vande; Lempert, Thomas

doi:10.2214/ajr.159.1.1609692

Cited by 131 publications

(91 citation statements)

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“…In contrast to our results in Nf1/nf1 mice, human brains analyzed showed widespread astrogliosis [39]. The brain regions that show astrogliosis in this study also do not correlate with the distribution of UBOs in humans; UBOs are most frequent in the cerebellum, basal ganglia, brainstem, and subcortical white matter [2,10,12,13,51]. The lateral region of the periaqueductal gray is mainly known for relevance to pain perception and in autonomic cardiac regulation, the nucleus accumbens functions in pleasure circuitry in the limbic system, while the hippocampus is associated with learning and memory.…”

Section: Discussioncontrasting

confidence: 94%

“…A second abnormality is observed in a sub-population of children with NF1, who show foci of increased T2 signal on brain magnetic resonance imaging that are not enhanced by gadolinium, visible by CT, or associated with focal neurologic deficits. These have been called unidentified bright objects (UBOs) [12,38,46], and are found primarily in the cerebellum, subcortical white matter, brainstem, and basal ganglia [2,10,12,13,51]. UBOs disappear with increasing age.…”

Section: Introductionmentioning

confidence: 99%

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Region-specific astrogliosis in brains of mice heterozygous for mutations in the neurofibromatosis type 1 (Nf1) tumor suppressor

et al. 1999

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Brains from human neurofibromatosis type 1 (NF1) patients show increased expression of glial fibrillary acidic protein (GFAP), consistent with activation of astrocytes (M.L. Nordlund, T.A. Rizvi, C.I. Brannan, N. Ratner, Neurofibromin expression and astrogliosis in neurofibromatosis (type 1) brains, J. Neuropathol. Exp. Neurology 54 (1995) 588-600). We analyzed brains from transgenic mice in which the Nf1 gene was targeted by homologous recombination. We show here that, in all heterozygous mice analyzed, there are increased numbers of astrocytes expressing high levels of GFAP in medial regions of the periaqueductal gray and in the nucleus accumbens. More subtle, but significant, changes in the number of GFAP positive astrocytes were observed in the hippocampus in 60% of mutant mice analyzed. Astrocytes with elevated GFAP were present at 1 month, 2 months, 6 months and 12 months after birth. Most brain regions, including the cerebellum, basal ganglia, cerebral cortex, hypothalamus, thalamus, cortical amygdaloid area, and white matter tracts did not show any gliotic changes. No evidence of degenerating neurons was found using de Olmos' cupric silver stain. We conclude that Nf1/nf1 mice provide a model to study astrogliosis associated with neurofibromatosis type 1.

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Section: Discussioncontrasting

confidence: 94%

Section: Introductionmentioning

confidence: 99%

Region-specific astrogliosis in brains of mice heterozygous for mutations in the neurofibromatosis type 1 (Nf1) tumor suppressor

et al. 1999

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“…The FASI sometimes mimic the tumorous lesions, including glioneuronal tumors, because these lesions are demonstrated as increased T 2 and FLAIR images. However, the FASI are not tumors, but vacuolar or spongiotic changes in myelination disorder, and tend to resolve with increasing age [11,12,13]. Clinically symptomatic presentation due to tumor mass effect and/or heterogeneous enhancement on T 1 imaging of the lesion are important factors that could differentiate the glioneuronal tumorous lesions, including ganglioglioma and glial hamartomas, from the FASI presurgically.…”

Section: Discussionmentioning

confidence: 99%

Ganglioglioma of the Thoracolumbar Spinal Cord in a Patient with Neurofibromatosis Type 1: A Case Report and Literature Review

Hayashi¹,

Nakada²,

Mohri³

et al. 2011

Pediatr Neurosurg

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Gangliogliomas of the spinal cord are rare, and the conus medullaris is an extremely rare site for their occurrence. The authors present a case in which a ganglioglioma was found in the thoracolumbar spinal cord, including the conus medullaris, of a 5-year-old female patient with neurofibromatosis type 1 (NF1) who presented with paraparesis and urinary disturbance. MRI revealed an intramedullary lesion within the thoracolumbar spinal cord, including the conus medullaris, which was surgically removed. Pathological investigation showed a ganglioglioma consisting of glioneuronal tumor cells. This is the first report to provide a pathological description of a spinal cord ganglioglioma in a patient with NF1. Because gangliogliomas usually have a good prognosis following resection, it is important to clearly distinguish them from other NF1-associated lesions, even though ganglioglioma of the thoracolumbar spinal cord, including the conus medullaris, is an extremely rare condition.

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“…Unidentified bright objects (UBOs) are well circumscribed round to oval spots seen on T2-weighed brain MRI scans. Their clinical course is benign and they usually disappear with age [141][142][143]. Some studies suggest a correlation between UBOs and some aspects of cognitive functioning [144][145][146][147], but these findings are not confirmed by others [148,149].…”

Section: Clinical and Behavioural Phenotypementioning

confidence: 98%