Bone Manifestations of Neurofibromatosis Type 1

Abstract

Von Recklinghausen disease is the most common phacomatosis. It can affect many systems, including the bone system. Through these 2 cases, we illustrate the bone manifestations of this disease.

Keywords: neurofibromatosis; pseudoarthrosis; sphenoidal dysplasia.

Figure 1.

Anterior incurvation of the left leg with brown stains on the lateral aspect of the back and the medial aspect of the left leg.

Figure 2.

(A) Antero-medial incurvation of the tibia, angulation of the fibula with densification and cortical thickening reducing the medullary canal and solution of bony continuity associated with a callus, in relation to a congenital pseudarthrosis. (B) Respect for spinal statics, posterior scalloping more marked at the level of the vertebral body of L5.

Figure 3.

Absence of vascular anomalies, bone signal anomaly with tibio-peroneal pseudarthrosis, absence of soft tissue proliferation.

Figure 4.

Multiplanar T2 MRI sections, T1 sag without gado, ax DWI, and T1 sag with injection showing dural ectasia with posterior scalloping of the vertebral bodies of L5 and S1. At the level of the lumbosacral vertebrae (L4, L5, and S1), presence of several right paraspinal serpiginous formations enlarging the homolateral foramen, with indistinct contours pushing back the right spinal muscles and the homolateral psoas of heterogeneous hyper T2 signal centered by a hypo signal zone, hypoT1 weakly enhanced after injection of gado in connection with plexiform neuromas.

Figure 5.

Sphenoidal dysplasia, marked by the absence of the large left wing of the sphenoid.