Deep plexiform neurofibroma in a child with NF1.

Abstract

Father affected by NF1, many café-au-lait spots since birth (Fig. 1), lower limbs dysmetria with prevalence of left, left tibia recurvata (Fig. 2). Brain and spine MRI showed multiple hypersignal areas in T2-weighted sequences, compatible with the typical benign lesions in NF1, the so-called UNOs (Undefined Neurofibromatosis Objects). The patient was first observed at the age of 4 years for a lump on the medial surface of the left leg, just below the knee (Fig. 1, arrows). Physical examination showed in the same region a swelling with blurred borders, soft-elastic, movable on the deep layers, painless and covered by normal skin. The clinical diagnosis was plexiform neurofibroma. MRI revealed a neoplasm composed of serpiginous structures, which seemed to extend into the subcutaneous and penetrate into the bone marrrow canal (Fig. 3).