Background: Achondroplasia, the most common genetic dwarfism caused by the FGFR3 mutation (autosomal dominant, 80% de novo), results in a disproportionately short stature. Thoracolumbar kyphosis (TLK), combined with characteristic spinal canal stenosis, increases the risk of symptomatic compression, yet the literature lacks clear thresholds for symptom onset or progressive deformity angles. Methods: A 16-year-old female with achondroplasia presented with rapidly progressive kyphosis despite conservative management (bracing and therapy). Over six months, she developed neurogenic claudication; bilateral leg pain; weakness; and paresthesia that worsened with standing/walking, which was relieved by flexion/sitting. Imaging demonstrated surgical-threshold kyphosis with progressive spinal misalignment. Her symptoms indicated compressive myeloradiculopathy from lumbar stenosis, critical given achondroplasia’s congenitally narrowed canal and heightened neurologic vulnerability. Results: Staged surgery planned: Posterior fusion T6-L4 with pedicle screws and then extensive decompression (laminectomy/foraminotomy T11-L3), L1 corpectomy with expandable titanium cage, and Ponte osteotomies. Intraoperative complications included a malpositioned left T10 screw breaching the anterior/lateral cortex near the aorta, requiring urgent revision. Postoperatively: Neurogenic bladder, wound leakage, and E. coli urinary tract infection (UTI) with fever (treated with IV antibiotics). After infection resolution, definitive surgery removed the malpositioned screw and completed decompression, corpectomy, cage placement, bone grafting, and osteotomies, successfully resolving neurological symptoms. However, 13 cm trunk lengthening caused severe functional impairment—disproportionately short arms prevented independent toileting and dressing. Left arm lengthening via external fixation restored partial function. At 2.5-year follow-up, there was solid fusion, no neurological deficits, and improved quality of life. Conclusions: Surgery addresses severe TLK, vertebral wedging, and neurogenic claudication in achondroplasia. Vertebral column resection effectively corrects TLK and neurological deficits but carries a high complication risk. This should be reserved for severe TLK with hypoplastic vertebrae, performed by experienced surgeons. Critically, correction magnitude must preserve limb–trunk proportions to prevent functional disability, as excessive lengthening may necessitate additional limb procedures for independence restoration.
Walczak et al. (Mon,) studied this question.