Spontaneous rotational dislocation of the lumbar spine in type 1 neurofibromatosis

Abstract

Rationale: Scoliosis is the most common form of dystrophic spinal deformities in type 1 neurofibromatosis, whereas a spontaneous rotational dislocation of the lumbar spine is a rare entity. Former researchers had advocated the use of circumferential fusion performed through combined anterior-posterior approaches as the mode of treatment of this situation, but we managed to achieve a solid circumferential fusion equally using posterior approach alone. Patient concerns: A 51-year-old lady presented with severe back pain and no history of trauma, fever, or loss of weight. On examination, she showed several café-au-lait spots on her body and no neurologic deficit. Diagnoses: The imageology revealed a rotational dislocation of the L2 to L3. The diagnosis of neurofibroma was confirmed by biopsy. Interventions: The patient underwent posterior reduction, combined intervertebral-posterolateral fusion, and internal fixation with screws and rods. Outcomes: The patient was satisfied with the back pain relief after surgery and able to live a normal life at follow-up. The imageology showed a good correction of the deformity with a solid bony fusion. Lessons: Special attention must be paid to patients who have neurofibromatosis and unexplained back pain for early diagnosis. Early circumferential fusion to reconstruct a stable spine is the key to treatment. Given the result of this case, the prognosis is promising following posterior surgery alone.

The Importance of Apex Location and Proximal Hemi-Curve Morphology for the Surgical Tactic of Significant Convex Coronal Imbalance in Patients with Dystrophic Scoliosis Secondary to Type I Neurofibromatosis: Classification and Management

“…Their medical records, imaging scans, and operative reports were reviewed. The data collected include preoperative, postoperative and nal main curve Cobb and kyphotic angles, patterns of convex CI, apex location, presence of vertebral rotatory subluxation (de ned as a classic double-vertebrae sign on the axial computed tomography images) [17,18], coronal balance distance (CBD), sagittal vertical axis (SVA), surgical strategies, fusion segments, implant density, ratio of laminar hook, postoperative neurological status, and surgical complications. Curve exibility was not assessed for this special patient subgroup.…”

Tumors and infections of the growing spine

“…Neurofibromatosis 1 (NF1) is the most frequent single-gene multisystem disorder with autosomal dominant inheritance. 63 – 65 It is caused by the mutation of Neurofibromin 1, a gene on chromosome 17 which is responsible for production of a neurofibromin. 66 , 67 This is a disorder of neural crest cells, defined as “a spectrum of multifaceted diseases, probably of hamartomatous in origin, involving neuroectoderm, mesoderm, and endoderm.” 65 , 68 …”

Spinal Manifestations of Neurofibromatosis: An Update

“…Non-dystrophic: is less severe, more common, and less rapidly progressing than dystrophic scoliosis [33]. Its signs and symptoms and treatment methods are similar to normal idiopathic scoliosis [46]. Non-dystrophic scoliosis can at times change into its dystrophic form due to modulation [14].…”

“…This is always caused by erosion which in turn may be caused by neurogenic tumors like meningocele [48]. Some of the other changes seen in the dystrophic type are severe rotation of the apical vertebra, defective pedicles, widening of the spinal canal or the intervertebral foramina, sharpening of the vertebral margins, portion of the second rib, spindling appearance of the transverse process, or a paravertebral mass [29,38,43,46].…”