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Age-related findings on MRI in neurofibromatosis type 1

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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.

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Acknowledgements

This research was supported by the Department of Defense Neurofibromatosis Research Program, managed by the U.S. Army Medical Research and Materiel Command (USAMRMC; award number DAMD17-00-1-0534). We are grateful to Dr. Sridhar Gibikote for his helpful comments on the significance of the radiological findings and Mrs. Susanne Smith for her administrative support.

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Authors and Affiliations

  1. The T. Y. Nelson Department of Neurology, The Children’s Hospital at Westmead, Sydney, NSW, Australia

    Deepak S. Gill & Kathryn N. North

  2. Neurogenetics Research Unit, The Children’s Hospital at Westmead, Locked Bag, 4001, Westmead, NSW 2145, Sydney, Australia

    Shelley L. Hyman & Kathryn N. North

  3. Department of Radiology, The Children’s Hospital at Westmead, Westmead, NSW 2145, Sydney, Australia

    Adam Steinberg

Authors
  1. Deepak S. Gill
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  2. Shelley L. Hyman
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  4. Kathryn N. North
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Correspondence to Kathryn N. North.

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Gill, D.S., Hyman, S.L., Steinberg, A. et al. Age-related findings on MRI in neurofibromatosis type 1. Pediatr Radiol 36, 1048–1056 (2006). https://doi.org/10.1007/s00247-006-0267-2

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  • DOI: https://doi.org/10.1007/s00247-006-0267-2

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