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Published in: Pediatric Radiology 10/2006

01-10-2006 | Original Article

Age-related findings on MRI in neurofibromatosis type 1

Authors: Deepak S. Gill, Shelley L. Hyman, Adam Steinberg, Kathryn N. North

Published in: Pediatric Radiology | Issue 10/2006

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Abstract

Background

T2 hyperintensities (T2H) on MRI are the most common CNS lesions in individuals with neurofibromatosis type 1 (NF1).

Objectives

The aim was to determine the frequency, signal characteristics and localization of T2H at different ages. In addition, we examined the sensitivity of different MR imaging sequences in detecting these lesions.

Materials and methods

We studied prospectively a cohort of children, adolescents and young adults with NF1 using T2-volume (T2-V) and conventional MRI sequences. Lesions were designated as either discrete or diffuse, and the region of signal abnormality was recorded. A total of 103 patients were studied (age range 8.0–25.4 years, mean 13.9 years).

Results

The frequency, size, and intensity of T2H decreased with age in the basal ganglia (BG) and the cerebellum/brainstem (CB/BS). The majority of thalamic and CB/BS lesions were diffuse. Of the total cohort, 80% had diffuse bilateral hippocampal hyperintensities and 18.4% had hemispheric lesions best demonstrated on FLAIR; there was no significant difference in the frequency or signal intensity of hemispheric lesions with age.

Conclusion

Lesions in the cerebral hemispheres and hippocampus imaged by MR do not change in prevalence over time, suggesting a different pathological basis from the lesions in the in BG and CB/BS that resolve with age. FLAIR and T2-V sequences are more sensitive in detecting lesions than standard T2-weighted sequences.
Literature
1.
go back to reference DiPaolo DP, Zimmerman RA, Rorke LB, et al (1995) Neurofibromatosis type 1: pathologic substrate of high-signal intensity foci in the brain. Radiology 195:721–724PubMed DiPaolo DP, Zimmerman RA, Rorke LB, et al (1995) Neurofibromatosis type 1: pathologic substrate of high-signal intensity foci in the brain. Radiology 195:721–724PubMed
2.
go back to reference Cawthon RM, Weiss M, Xu G, et al (1990) A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell 62:193–201PubMedCrossRef Cawthon RM, Weiss M, Xu G, et al (1990) A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell 62:193–201PubMedCrossRef
3.
go back to reference Wallace MR, Marchuk DA, Andersen LB, et al (1990) Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science 249:181–186PubMedCrossRef Wallace MR, Marchuk DA, Andersen LB, et al (1990) Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science 249:181–186PubMedCrossRef
4.
go back to reference Xu G, O’Connell P, Viskochil D, et al (1990) The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell 62:599–608PubMedCrossRef Xu G, O’Connell P, Viskochil D, et al (1990) The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell 62:599–608PubMedCrossRef
5.
go back to reference DeClue JE, Cohen BD, Lowy DR (1991) Identification and characterization of the neurofibromatosis type 1 gene product. Proc Natl Acad Sci U S A 88:9914–9918PubMedCrossRef DeClue JE, Cohen BD, Lowy DR (1991) Identification and characterization of the neurofibromatosis type 1 gene product. Proc Natl Acad Sci U S A 88:9914–9918PubMedCrossRef
6.
go back to reference Gutmann DH, Wood DL, Collins FS (1991) Identification of the neurofibromatosis type 1 gene product. Proc Natl Acad Sci U S A 88:9658–9662PubMedCrossRef Gutmann DH, Wood DL, Collins FS (1991) Identification of the neurofibromatosis type 1 gene product. Proc Natl Acad Sci U S A 88:9658–9662PubMedCrossRef
7.
go back to reference North K, Ratner N (2003) The brain in neurofibromatosis type 1. In: Fisch GS (ed) Genetics and genomics of neurobehavioural disorders in contemporary clinical neurosciences series. Humana Press, Totowa, pp 97–135 North K, Ratner N (2003) The brain in neurofibromatosis type 1. In: Fisch GS (ed) Genetics and genomics of neurobehavioural disorders in contemporary clinical neurosciences series. Humana Press, Totowa, pp 97–135
8.
go back to reference Moore BD III, Slopis JM, Jackson EF, et al (2000) Brain volume in children with neurofibromatosis type 1: relation to neuropsychological status. Neurology 54:914–920PubMed Moore BD III, Slopis JM, Jackson EF, et al (2000) Brain volume in children with neurofibromatosis type 1: relation to neuropsychological status. Neurology 54:914–920PubMed
9.
go back to reference Kayl AE, Moore BD III, Slopis JM, et al (2000) Quantitative morphology of the corpus callosum in children with neurofibromatosis and attention-deficit hyperactivity disorder. J Child Neurol 15:90–96PubMed Kayl AE, Moore BD III, Slopis JM, et al (2000) Quantitative morphology of the corpus callosum in children with neurofibromatosis and attention-deficit hyperactivity disorder. J Child Neurol 15:90–96PubMed
10.
go back to reference Sevick RJ, Barkovich AJ, Edwards MSB, et al (1992) Evolution of white matter lesions in neurofibromatosis type 1: MR findings. AJNR 159:171–175 Sevick RJ, Barkovich AJ, Edwards MSB, et al (1992) Evolution of white matter lesions in neurofibromatosis type 1: MR findings. AJNR 159:171–175
11.
go back to reference North KN, Riccardi MD, Samango-Sprouse C, et al (1997) Cognitive function and academic performance in neurofibromatosis 1: consensus statement from the NF1 Cognitive Disorders Task Force. Neurology 48:1121–1127PubMed North KN, Riccardi MD, Samango-Sprouse C, et al (1997) Cognitive function and academic performance in neurofibromatosis 1: consensus statement from the NF1 Cognitive Disorders Task Force. Neurology 48:1121–1127PubMed
12.
go back to reference Aoki S, Barkovich AJ, Nishimura K, et al (1989) Neurofibromatosis type 1 and 2: cranial MR findings. Radiology 172:527–534PubMed Aoki S, Barkovich AJ, Nishimura K, et al (1989) Neurofibromatosis type 1 and 2: cranial MR findings. Radiology 172:527–534PubMed
13.
go back to reference DeBella K, Poskitt K, Szudek J, et al (2000) Use of “unidentified bright objects” on MRI for diagnosis of neurofibromatosis 1 in children. Neurology 54:1646–1650PubMed DeBella K, Poskitt K, Szudek J, et al (2000) Use of “unidentified bright objects” on MRI for diagnosis of neurofibromatosis 1 in children. Neurology 54:1646–1650PubMed
14.
go back to reference Van Es S, North KN, McHugh K, et al (1996) MRI findings in children with neurofibromatosis type 1: a prospective study. Pediatr Radiol 26:478–487PubMedCrossRef Van Es S, North KN, McHugh K, et al (1996) MRI findings in children with neurofibromatosis type 1: a prospective study. Pediatr Radiol 26:478–487PubMedCrossRef
15.
go back to reference Rosman NP, Pearce J (1967) The brain in multiple neurofibromatosis (von Recklinghausen’s disease): a suggested neuropathological basis for the associated mental defect. Brain 90:829–838PubMedCrossRef Rosman NP, Pearce J (1967) The brain in multiple neurofibromatosis (von Recklinghausen’s disease): a suggested neuropathological basis for the associated mental defect. Brain 90:829–838PubMedCrossRef
16.
go back to reference Rubinstein LJ (1986) The malformative central nervous system lesions in the central and peripheral forms of neurofibromatosis: a neuropathological study of 22 cases. Ann N Y Acad Sci 486:14–29PubMedCrossRef Rubinstein LJ (1986) The malformative central nervous system lesions in the central and peripheral forms of neurofibromatosis: a neuropathological study of 22 cases. Ann N Y Acad Sci 486:14–29PubMedCrossRef
17.
go back to reference Itoh T, Magnaldi S, White RM, et al (1994) Neurofibromatosis type 1: the evolution of deep gray and white matter MR abnormalities. AJNR 15:1513–1519PubMed Itoh T, Magnaldi S, White RM, et al (1994) Neurofibromatosis type 1: the evolution of deep gray and white matter MR abnormalities. AJNR 15:1513–1519PubMed
18.
go back to reference Hyman SL, Gill DS, Shores EA, et al (2003) Natural history of cognitive deficits and their relationships to MRI T2-hyperintensities in NF1. Neurology 60:1139–1145PubMed Hyman SL, Gill DS, Shores EA, et al (2003) Natural history of cognitive deficits and their relationships to MRI T2-hyperintensities in NF1. Neurology 60:1139–1145PubMed
19.
go back to reference Mirowitz SA, Sartor K, Gado M (1989) High-intensity basal ganglia lesion on T1 weighted MR images in neurofibromatosis type-1. AJNR 10:1159–1163PubMed Mirowitz SA, Sartor K, Gado M (1989) High-intensity basal ganglia lesion on T1 weighted MR images in neurofibromatosis type-1. AJNR 10:1159–1163PubMed
20.
go back to reference Steen RG, Taylor JS, Langston JW, et al (2001) Prospective evaluation of the brain in asymptomatic children with neurofibromatosis type 1: relationship of macrocephaly to T1 relaxation changes and structural brain abnormalities. AJNR 22:810–817PubMed Steen RG, Taylor JS, Langston JW, et al (2001) Prospective evaluation of the brain in asymptomatic children with neurofibromatosis type 1: relationship of macrocephaly to T1 relaxation changes and structural brain abnormalities. AJNR 22:810–817PubMed
21.
go back to reference Terada H, Barkovich AJ, Edwards MSB, et al (1996) Evolution of high-intensity basal ganglia lesions on T1-weighted MR in neurofibromatosis type 1. AJNR 17:755–760PubMed Terada H, Barkovich AJ, Edwards MSB, et al (1996) Evolution of high-intensity basal ganglia lesions on T1-weighted MR in neurofibromatosis type 1. AJNR 17:755–760PubMed
22.
go back to reference Ferner RE, Chaudhuri R, Bingham J, et al (1993) MRI in neurofibromatosis 1. The nature and evolution of increased intensity T2 weighted lesions and their relationship to intellectual impairment. J Neurol Neurosurg Psychiatry 56:492–495PubMedCrossRef Ferner RE, Chaudhuri R, Bingham J, et al (1993) MRI in neurofibromatosis 1. The nature and evolution of increased intensity T2 weighted lesions and their relationship to intellectual impairment. J Neurol Neurosurg Psychiatry 56:492–495PubMedCrossRef
23.
go back to reference Balestri P, Vivarelli R, Grosso S, et al (2003) Malformations of cortical development in neurofibromatosis type 1. Neurology 61:1799–1801PubMed Balestri P, Vivarelli R, Grosso S, et al (2003) Malformations of cortical development in neurofibromatosis type 1. Neurology 61:1799–1801PubMed
24.
go back to reference Yamanouchi H, Kato T, Matsuda H, et al (1995) MRI in neurofibromatosis type I: using fluid-attenuated inversion recovery pulse sequences. Pediatr Neurol 12:286–290PubMedCrossRef Yamanouchi H, Kato T, Matsuda H, et al (1995) MRI in neurofibromatosis type I: using fluid-attenuated inversion recovery pulse sequences. Pediatr Neurol 12:286–290PubMedCrossRef
25.
go back to reference Silva AJ, Frankland PW, Marowitz Z, et al (1997) A mouse model for the learning and memory deficits associated with neurofibromatosis type I. Nat Genet 15:281–284PubMedCrossRef Silva AJ, Frankland PW, Marowitz Z, et al (1997) A mouse model for the learning and memory deficits associated with neurofibromatosis type I. Nat Genet 15:281–284PubMedCrossRef
26.
go back to reference Legius E, Marchuk DA, Collins FS, et al (1993) Somatic deletion of neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis. Nat Genet 3:122–126PubMedCrossRef Legius E, Marchuk DA, Collins FS, et al (1993) Somatic deletion of neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis. Nat Genet 3:122–126PubMedCrossRef
27.
go back to reference Shannon KM, O’Connell P, Martin GA, et al (1994) Loss of the normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders. N Engl J Med 330:597–601PubMedCrossRef Shannon KM, O’Connell P, Martin GA, et al (1994) Loss of the normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders. N Engl J Med 330:597–601PubMedCrossRef
28.
go back to reference Bollag G, McCormick F (1991) Differential regulation of Ras GAP and neurofibromatosis gene product activities. Nature 351:576–579PubMedCrossRef Bollag G, McCormick F (1991) Differential regulation of Ras GAP and neurofibromatosis gene product activities. Nature 351:576–579PubMedCrossRef
29.
go back to reference Nordlund ML, Rizvi TA, Brannan CI, et al (1995) Neurofibromin expression and astrogliosis in neurofibromatosis (type 1) brains. J Neuropathol Exp Neurol 54:588–600PubMed Nordlund ML, Rizvi TA, Brannan CI, et al (1995) Neurofibromin expression and astrogliosis in neurofibromatosis (type 1) brains. J Neuropathol Exp Neurol 54:588–600PubMed
30.
go back to reference Hofman KJ, Harris EL, Bryan RN, et al (1994) Neurofibromatosis type 1: the cognitive phenotype. J Pediatr 124:S1–S8PubMedCrossRef Hofman KJ, Harris EL, Bryan RN, et al (1994) Neurofibromatosis type 1: the cognitive phenotype. J Pediatr 124:S1–S8PubMedCrossRef
Metadata
Title
Age-related findings on MRI in neurofibromatosis type 1
Authors
Deepak S. Gill
Shelley L. Hyman
Adam Steinberg
Kathryn N. North
Publication date
01-10-2006
Publisher
Springer-Verlag
Published in
Pediatric Radiology / Issue 10/2006
Print ISSN: 0301-0449
Electronic ISSN: 1432-1998
DOI
https://doi.org/10.1007/s00247-006-0267-2

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