Complicated Spinal Stenosis and Spinal Deformity in Patients with Achondroplasia: Case Series and Review of the Literature

Abstract

Objective: Due to the low incidence of achondroplasia (Ach), there is a relative lack of research on the treatment and management of spinal complications of Ach. Characteristics and interventions for spinal complications in patients with Ach are in urgent need of investigation. This study aimed to summarize the common spinal complications in patients with Ach and the corresponding treatment strategies.

Methods: This study is a retrospective case series. We retrospectively collected and analyzed Ach cases who presented to our hospital with neurological symptoms due to skeletal anomalies between February 2003 and October 2023. A total of seven patients were included, four males (57.1%) and three females (42.9%) with a mean age of 38.57 years. Patient pain/numbness visual analog scale (VAS), preoperative Oswestry disability index (ODI), development of neurological complaints, and presentation of skeletal abnormalities were collected and followed up routinely at 3, 6, 12 and 24 months postoperatively. The relevant literature was reviewed.

Results: Seven patients were included in this series. The mean preoperative VAS was 4, and the mean preoperative ODI was 50.98%. All patients had concomitant spinal stenosis, four with thoracolumbar kyphosis (TLK), and one with scoliosis. Six of the seven patients underwent surgery, and one patient received conservative treatment. In the routine follow-ups, all patients experienced satisfactory relief of symptoms. Only one of the seven patients developed a new rare lesion adjacent to the primary segments. Six months after the first surgery, a follow-up visit revealed thoracic spinal stenosis caused by ossification of the ligamentum flavum, and his symptoms were relieved after thoracic decompression surgery.

Conclusions: Ach seriously affects the skeletal development of patients and can lead to the development of spinal stenosis, spinal deformities, and other complications of the locomotor system. Surgery remains the primary treatment for complications of the musculoskeletal system. Specific surgical approaches and comprehensive, long-term management are critical to the treatment of patients with spinal complications.

Keywords

Achondroplasia / Kyphosis / Scoliosis / Spinal Stenosis / Surgery

References

[1] Shiang R, Thompson LM, Zhu YZ, Church DM, Fielder TJ, Bocian M, et al. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell. 1994; 78(2): 335–342.

[2] Hunter AG, Bankier A, Rogers JG, Sillence D, Scott CI Jr. Medical complications of achondroplasia: a multicentre patient review. J Med Genet. 1998; 35(9): 705–712.

[3] Ornitz DM, Legeai-Mallet L. Achondroplasia: development, pathogenesis, and therapy. Dev Dyn. 2017; 246(4): 291–309.

[4] Mahomed NN, Spellmann M, Goldberg MJ. Functional health status of adults with achondroplasia. Am J Med Genet. 1998; 78(1): 30–35.

[5] Rousseau F, Bonaventure J, Legeai-Mallet L, Pelet A, Rozet J-M, Maroteaux P, et al. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature. 1994; 371(6494): 252–254.

[6] Horton WA, Hall JG, Hecht JT. Achondroplasia. Lancet. 2007; 370(9582): 162–172.

[7] Suzuki K, Kanamori M, Nobukiyo M. Ossification of the thoracic ligamentum flavum in an achondroplastic patient: a case report. J Orthop Surg (Hong Kong). 2008; 16(3): 392–395.

[8] Saito K, Miyakoshi N, Hongo M, Kasukawa Y, Ishikawa Y, Shimada Y. Congenital lumbar spinal stenosis with ossification of the ligamentum flavum in achondroplasia: a case report. J Med Case Rep. 2014; 8: 88.

[9] Fredwall SO, Maanum G, Johansen H, Snekkevik H, Savarirayan R, Lidal IB. Current knowledge of medical complications in adults with achondroplasia: a scoping review. Clin Genet. 2020; 97(1): 179–197.

[10] Nelson MA. Spinal stenosis in achondroplasia. Proc R Soc Med. 2016; 65(11): 1028–1029.

[11] Ain MC, Chang TL, Schkrohowsky JG, Carlisle ES, Hodor M, Rigamonti D. Rates of perioperative complications associated with laminectomies in patients with achondroplasia. J Bone Joint Surg Am. 2008; 90(2): 295–298.

[12] Thomeer RT, van Dijk JM. Surgical treatment of lumbar stenosis in achondroplasia. J Neurosurg. 2002; 96(3 Suppl): 292–297.

[13] Liao JC, Chen WJ, Lai PL, Chen LH. Surgical treatment of achondroplasia with thoracolumbar kyphosis and spinal stenosis—a case report. Acta Orthop. 2006; 77(3): 541–544.

[14] Vleggeert-Lankamp C, Peul W. Surgical decompression of thoracic spinal stenosis in achondroplasia: indication and outcome. J Neurosurg Spine. 2012; 17(2): 164–172.

[15] Khan BI, Yost MT, Badkoobehi H, Ain MC. Prevalence of scoliosis and thoracolumbar kyphosis in patients with achondroplasia. Spine Deform. 2016; 4(2): 145–148.

[16] Shafi K, Lovecchio F, Sava M, Steinhaus M, Samuel A, Carter E, et al. Complications and revisions after spine surgery in patients with skeletal dysplasia: have we improved? Global. Spine J. 2021; 13: 268–275.

[17] Hoover-Fong JE, McGready J, Schulze KJ, Barnes H, Scott CI. Weight for age charts for children with achondroplasia. Am J Med Genet A. 2007; 143A(19): 2227–2235.

[18] Ireland P, Pacey V, Zankl A, Edwards P, Johnson L, Savarirayan R. Optimal management of complications associated with achondroplasia. Appl Clin Genet. 2014; 7: 117–125.

[19] Engberts AC, Jacobs WC, Castelijns SJ, Castelein RM, Vleggeert-Lankamp CL. The prevalence of thoracolumbar kyphosis in achondroplasia: a systematic review. J Child Orthop. 2012; 6(1): 69–73.

[20] Yoshii J, Traynelis VC. Achondroplasia and cervical laminoplasty. J Neurosurg Spine. 2009; 11(4): 417–420.

[21] Hamamci N, Hawran S, Biering-Sorensen F. Achondroplasia and spinal cord lesion: three case reports. Paraplegia. 1993; 31(6): 375–379.

[22] Kahanovitz N, Rimoin DL, Sillence DO. The clinical spectrum of lumbar spine disease in achondroplasia. Spine (Phila Pa 1976). 1982; 7(2): 137–140.

[23] Kopits SE. Thoracolumbar kyphosis and lumbosacral hyperlordosis in achondroplastic children. Basic Life Sci. 1988; 48: 241–255.

[24] Fredwall SO, Steen U, de Vries O, Rustad CF, Eggesbø HB, Weedon-Fekjær H, et al. High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study. Orphanet J Rare Dis. 2020; 15(1): 123.

[25] Zhao J, Jiang H, Zhuge Y, Gao R, Wang C, Ma J, et al. Risk factors for the drift phenomenon in O-arm navigation-assisted pedicle screw placement during spinal deformity surgery. Orthop Surg. 2023; 15(1): 118–123.

[26] Srikumaran U, Woodard EJ, Leet AI, Rigamonti D, Sponseller PD, Ain MC. Pedicle and spinal canal parameters of the lower thoracic and lumbar vertebrae in the achondroplast population. Spine (Phila Pa 1976). 2007; 32(22): 2423–2431.

[27] Pauli RM. Achondroplasia: a comprehensive clinical review. Orphanet J Rare Dis. 2019; 14(1): 1.

[28] Miyazaki M, Kanezaki S, Notani N, Ishihara T, Tsumura H. Spondylectomy and lateral lumbar interbody fusion for thoracolumbar kyphosis in an adult with achondroplasia: a case report. Medicine (Baltimore). 2017; 96(49): e8983.

[29] Ain MC, Shirley ED, Pirouzmanesh A, Hariri A, Carson BS. Postlaminectomy kyphosis in the skeletally immature achondroplast. Spine (Phila Pa 1976). 2006; 31(2): 197–201.

[30] Agabegi SS, Antekeier DP, Crawford AH, Crone KR. Postlaminectomy kyphosis in an achondroplastic adolescent treated for spinal stenosis. Orthopedics. 2008; 31(2): 168.

[31] Bredow J, Meyer C, Oikonomidis S, Kernich C, Kernich N, Hofstetter CP, et al. Long-term radiological and clinical outcome after lumbar spinal fusion surgery in patients with degenerative spondylolisthesis: a prospective 6-year follow-up study. Orthop Surg. 2022; 14(8): 1607–1614.

[32] Cabrera-Aldana EE, De la Garza Ramos R, Zuluaga Gomez A, Rosales-Olivares LM, Reyes-Sanchez A. Multilevel thoracic ossification of the ligamentum flavum in a Hispanic woman with achondroplasia. Spine J. 2016; 16(11): e749–e750.

[33] Sharma D. A rare case of ossification of ligamentum flavum presenting as dorsal myelopathy in achondroplasia. J Neurol Stroke. 2017; 7(5): 11–12.

[34] Gokcen HB, Ozturk C. Ossification of the ligamentum flavum at the thoracic and lumbar region in an achondroplastic patient. World Neurosurg. 2019; 126: 461–465.

[35] Nanda A, Bansal K, Gupta A, Verma K, Manghwani J, Chhabra HS. Multilevel thoracic and lumbar ligamentum flavum ossification in an achondroplasic-a rare presentation. Spinal Cord Ser Cases. 2021; 7(1): 69.

RIGHTS & PERMISSIONS

2024 The Author(s). Orthopaedic Surgery published by Tianjin Hospital and John Wiley & Sons Australia, Ltd.