Could Screw/Hook Insertion at the Apical with Rib Head Dislocation Effectively Retract the Corresponding Rib Head from Spinal Canal in Dystrophic Scoliosis Secondary to Type 1 Neurofibromatosis?

Background. Rib head dislocation (RHD) in dystrophic scoliosis of type 1 neurofibromatosis (DS-NF1) is a unique disorder caused by skeletal dystrophy and scoliotic instability. No particular surgical manipulation is mentioned in the literature to instruct the spine surgeons to effectively obtain more migration of the dislocated rib head without resection. The present study aimed to investigate the effectiveness of screw/hook insertion at vertebrae with RHDs on the retraction of penetrated rib head from spinal canal.Methods. 37 neurologically intact patients with DS-NF1 and concomitant 53 RHDs undergoing scoliosis surgery without rib head excision were retrospectively reviewed. We used pre and postoperative whole-spine radiographs to determine the Cobb angle and the vertebral translation (VT), and the CT scans to evaluate the intraspinal rib length (IRL) and rib-vertebral angle (RVA). The dislocated ribs were stratified into two groups according to the presence of screw/hook insertion at vertebrae with RHD: screw/hook group and non-screw/hook group. Results. 37 dislocated ribs with screws/hooks insertion at corresponding vertebrae were assigned into the screw/hook group and the remaining 16 dislocated ribs consisted of the non-screw/hook group. In the screw/hook group, the correction rates of Cobb angle and VT were significantly higher than the non-screw/hook group after surgery (58.7±16.0% vs. 30.9±12.4%, p=0.003; 61.8±18.8% vs. 35.1±16.6%, p=0.001; respectively). Similarly, more correction rates of IRL and RVA were found in the screw/hook group than the non-screw/hook group (63.1±31.3% vs. 30.1±20.7%, p=0.008; 17.6±9.7% vs. 7.2±3.6%, p=0.006; respectively). Multiple linear regression analysis revealed that the correction rates of Cobb angle, VT and RVA contributed significantly to correction of IRL (β=0.389, 0.939 and 1.869, respectively; p=0.019, 0.001 and 0.002, respectively).Conclusion. Screw/hook insertion at dystrophic vertebrae with RHDs contributed significantly to the degree of retraction of penetrated rib head from spinal canal. This effectiveness is mediated by more corrections of VT and RVA.

Surgical treatment of common peroneal neuropathy in schwannomatosis: illustrative cases

BACKGROUND Neurofibromatosis syndromes such as neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis often result in painful symptoms related to tumor burden. OBSERVATIONS Painful symptoms classically associated with common points of peripheral nerve entrapment, such as common peroneal neuropathy at the fibular tunnel, may present in patients both with and without focal tumor involvement. LESSONS Surgical decompression at the point of entrapment, with or without resection of tumor, may provide symptomatic relief. Examples of surgical decompression at the point of entrapment, both with and without resection of tumor, are presented.

The first experience of using MEK inhibitors for type 1 neurofibromatosis in children in the Russian Federation in a hospital for short-term treatment at the National Medical Research Center

Neurofibromatosis is a genetic disorder that affects the bones, soft tissues, skin, and the nervous system. Neurofibromatosis has been described in 1882, however, there is still no specific treatment for this disease and no treatment protocols for the most frequent and life-threatening complications such as non-malignant tumors deriving from the cells of the peripheral nerve sheaths. Progress in molecular genetic study discovered the underlying genetic alteration in this tumor. This knowledge provides the base for clinical trials with new drugs. MEK-inhibitors are acting on the RAS-MAPK signaling pathway and have shown their efficacy in decreasing the size of inoperable tumors in children with type 1 neurofibromatosis (NF1). Although, this therapy does not completely reduce the tumor volume, it can significantly improve the quality of life. This article presents a clinical case of the trametinib efficacy in a child suffering from NF1-associated plexiform neurofibromas.