Presentation
Multiple café au lait spots, developmental delay, atrial septal defect. Work up for NF1.
Patient Data
Brain findings reveal multiple symmetrical focal areas of T2/FLAIR hyperintensities without contrast enhancement or mass effect in the bilateral basal ganglia, hippocampus, thalamus, midbrain, pons, and cerebellum.
Spine findings indicate a large avidly enhancing soft tissue mass infiltrating the lumbosacral subcutaneous tissue and contacting the superficial aponeurosis of the paravertebral muscles, suggestive of neurofibroma.
Impression:
The above findings are consistent with Neurofibromatosis type 1.
Case Discussion
Focal abnormal signal intensity (FASI) are common neuroimaging findings in NF1, also known as unidentified bright objects. These benign findings are frequently observed in young children and typically resolve by late adolescence.
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