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Focal Areas of High Signal Intensity in Children with Neurofibromatosis Type 1: Expected Evolution on MRI

Fellows’ Journal Club

The authors retrospectively examined the MRI of children diagnosed with neurofibromatosis type 1 using the National Institutes of Health Consensus Criteria (1987), with imaging follow-up of at least 4 years. They recorded the number, size, and surface area of focal areas of high signal intensity according to their anatomic distribution on T2WI/T2-FLAIR sequences. A generalized mixed model was used to analyze the evolution of focal areas of high signal intensity according to age, and separate analyses were performed for girls and boys. Thirty-nine patients with a median follow-up of 7 years were analyzed. Focal areas of high signal intensity were found in 100% of patients, preferentially in the infratentorial white matter (35% cerebellum, 30% brain stem) and in the capsular lenticular region (22%). They measured 15mm in 95% of cases. The areas appeared from the age of 1 year; increased in number, size, and surface area to a peak at the age of 7; and then spontaneously regressed by 17 years of age. The authors conclude that the study suggests that the evolution of focal areas of high signal intensity is not related to puberty and has a peak at the age of 7 years.

Abstract

Figure 3 from Calvez et al
Temporal evolution of FASI on T2-FLAIR-weighted images. Axial T2-FLAIR sequences show capsular lenticular (A) and infratentorial white matter (C) FASI in a 6-year-old patient, then follow-up MR imaging in a 10-year-old patient with almost complete disappearance of these FASI (B and D).

BACKGROUND AND PURPOSE

Focal areas of high signal intensity are T2WI/T2-FLAIR hyperintensities frequently found on MR imaging of children diagnosed with neurofibromatosis type 1, often thought to regress spontaneously during adolescence or puberty. Due to the risk of tumor in this population, some focal areas of high signal intensity may pose diagnostic problems. The objective of this study was to assess the characteristics and temporal evolution of focal areas of high signal intensity in children with neurofibromatosis type 1 using long-term follow-up with MR imaging.

MATERIALS AND METHODS

We retrospectively examined the MRIs of children diagnosed with neurofibromatosis type 1 using the National Institutes of Health Consensus Criteria (1987), with imaging follow-up of at least 4 years. We recorded the number, size, and surface area of focal areas of high signal intensity according to their anatomic distribution on T2WI/T2-FLAIR sequences. A generalized mixed model was used to analyze the evolution of focal areas of high signal intensity according to age, and separate analyses were performed for girls and boys.

RESULTS

Thirty-nine patients (ie, 285 MR images) with a median follow-up of 7 years were analyzed. Focal areas of high signal intensity were found in 100% of patients, preferentially in the infratentorial white matter (35% cerebellum, 30% brain stem) and in the capsular lenticular region (22%). They measured 15 mm in 95% of cases. They appeared from the age of 1 year; increased in number, size, and surface area to a peak at the age of 7; and then spontaneously regressed by 17 years of age, similarly in girls and boys.

CONCLUSIONS

Focal areas of high signal intensity are mostly small (<15 mm) abnormalities in the posterior fossa or capsular lenticular region. Our results suggest that the evolution of focal areas of high signal intensity is not related to puberty with a peak at the age of 7 years. Knowledge of the predictive evolution of focal areas of high signal intensity is essential in the follow-up of children with neurofibromatosis type 1.

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