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Clinical and Instrumental (Magnetic Resonance Imaging [MRI] and Multimodal Evoked Potentials) Follow-Up of Brain Lesions in Three Young Patients With Neurofibromatosis 1

Anna Presicci, MD

Patrizia Ventura, MD

Simona Maria Bacca, MD

Department of Neurological and Psychiatric Sciences, Child Neuropsychiatric Service, University of Bari

Gianni Iliceto, MD

Nicola Medicamento

Department of Neurological and Psychiatric Sciences, Neuroradiologic Service, University of Bari

Maura Buttiglione, MD

Tommaso Perniola, MD

Department of Neurological and Psychiatric Sciences, Child Neuropsychiatric Service, University of Bari Bari, Italy

Diagnosis of neurofibromatosis 1 is based on clinical criteria. In a large number of children with neurofibromatosis 1, magnetic resonance imaging (MRI) reveals high-signal T₂-weighted intensities in different brain regions, defined as unidentified bright objects. These lesions are asymptomatic; most of them regress spontaneously with age, but the presence of contrast enhancement or mass effect in them usually strongly suggests an increased risk of proliferative changes. To date, few studies have focused on evoked potentials in patients with neurofibromatosis 1, and the reported abnormalities did not have significant clinical correlations. We describe the clinical and instrumental (MRI and evoked potentials) follow-up of three patients with neurofibromatosis 1. MRI and evoked potentials showed subclinical involvement of the central nervous system. Some MRI T₂-weighted hyperintensities showed enhancement and mass effect of uncertain significance. During follow-up, the MRI lesions spontaneously decreased in size or enhancement, allowing us to exclude the hypothesis of proliferative lesions; in the same way, some asymptomatic evoked potential abnormalities disappeared. These findings suggest that both MRI and evoked potentials could be useful in the detection and monitoring of cerebral complications of neurofibromatosis 1.

Journal of Child Neurology, Vol. 21, No. 12, 1085-1090 (2006)
DOI: 10.1177/7010.2006.00124


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