Regression of gadolinium-enhanced lesions in patients affected by neurofibromatosis type 1

Abstract

Neurofibromatosis type I is a genetic condition with an autosomal dominant transmission characterized by neurocutaneous involvement and a predisposition to tumor development. Central nervous system manifestations include benign areas of dysmyelination and possibly hazardous glial tumors whose clinical management may result challenging. Here, we report on three patients diagnosed with Neurofibromatosis type I whose brain MRI follow-up showed the presence of gadolinium-enhancing lesions which spontaneously regressed. In none of the three cases, the lesions showed any clinical correlate and eventually presented a striking reduction in size while gadolinium enhancement disappeared despite no specific therapy administration during the follow-up. Although their nature remains undetermined, these lesions presented a benign evolution. However, they might be misdiagnosed as potentially life-threatening tumors. Hitherto, a similar behavior has been described only in scattered cases and we believe these findings may be of particular interest for the clinical management of patients affected by neurofibromatosis type I.

Cerebellar radiological abnormalities in children with neurofibromatosis type 1: part 1 - clinical and neuroimaging findings

“…A few FASI showed contrast enhancement, mass effect, or both. Such findings are reported to occur rarely [ 13 , 14 , 41 , 42 ], but are not considered to be typical of FASI in NF1 [ 13 , 21 ]. They are concerning for the development of neoplasms [ 5 ].…”

“…However, infrequently a few FASI tend to also develop a transient mass effect and enduring contrast enhancement with time [ 14 , 41 , 42 ]. Sometimes this enduring contrast enhancement resolves [ 41 ], and only rarely does malignancy develops. Therefore, we support the clinical practice of repeating brain MRI in patients with NF1 who develop new clinical symptoms or signs (e.g.…”

Longitudinal Assessment of Enhancing Foci of Abnormal Signal Intensity in Neurofibromatosis Type 1

“…Other publications on contrast-enhancing FASI have been limited to case reports and very small numbers in cohort studies, and only a few of these provide details on follow-up and age. 3,6,[19][20][21][22][23][24][25][26][27][28][29] Considerations Regarding MR Imaging Follow-up In a study focusing on the splenium of the corpus callosum, Mimouni-Bloch et al 30 argue that baseline MR imaging should be considered in all patients with NF-1. Although lesions in the splenium are typically asymptomatic, current recommendations state MR imaging to be mandatory only in symptomatic patients.…”

Neuroimaging in emergency: a review of possible role of pineal gland disease

“…In these cases, MRI is the modality of choice for follow-up examinations (74) (Figure 2). CNS lymphomas and other lesions are relatively frequently reported as vanishing tumors because of their trend to regress with corticosteroid therapy (69,75).…”