Lumbar Scheuermann’s disease found in a patient with osteogenesis imperfecta (OI) caused by a heterozygous mutation in COL1A2 (c.4048G > A): a case report

Abstract

Background Osteogenesis imperfecta (OI) is a heterogeneous connective tissue disorder characterized by increased bone fragility and a series of extraskeletal manifestations. Approximately 90 % of OI cases are caused by type I collagen variants encoded by the collagen type I alpha 1 (COL1A1) or type I alpha 2 (COL1A2) gene. Lumbar Scheuermann’s disease is an atypical type of Scheuermann’s disease accompanied by Schmorl’s nodes and irregular endplates but without pronounced kyphosis. Although the etiology of Scheuermann’s disease is unclear, genetic and environmental factors are likely. Case presentation Here, we report a 32-year-old male patient who experienced multiple brittle fractures. Gene sequencing revealed a heterozygous mutation, c.4048G > A (p.G1350S), in the COL1A2 gene, and the patient was diagnosed with OI. Magnetic resonance imaging of his thoracolumbar spine revealed multiple Schmorl’s nodes. Conclusions This is the first reported case of OI coexisting with the spinal presentation of Scheuermann’s disease. It is speculated that the COL1A2 gene mutation might be an underlying novel genetic cause of Scheuermann’s disease. In conclusion, this case demonstrates the relationship between Scheuermann’s disease and OI for the first time and enriches the genotype-phenotype spectrum of OI.

Atypical Scheuermann’s Disease with Severe Kyphosis and Negative Sagittal Balance in the Thoracolumbar Region; A Case Report and Literature Review

“…Consequently, the patient was diagnosed with osteogenesis imperfecta. An association might exist between atypical Scheuermann's kyphosis and osteogenesis imperfecta, but since patients with atypical lumbar Scheuermann's kyphosis do not regularly undergo genetic sequencing, such associations are unclear [19]. The patient in that study did not undergo operation and the comparison of results is not possible.…”

Atypical Scheuermann's disease with severe kyphosis and negative sagittal balance in the thoracolumbar region: A case report and literature review

“…Consequently, the patient was diagnosed with osteogenesis imperfecta. An association might exist between atypical Scheuermann's kyphosis and osteogenesis imperfecta, but since patients with atypical lumbar Scheuermann's kyphosis do not regularly undergo genetic sequencing, such associations are unclear [ 23 ]. The patient in that study did not undergo operation and the comparison of results is not possible.…”

“… No. Author Age Sex Location of curve Surgical approach Outcome Complication 1 Dai et al [ 18 ] 16 M L PSF Good Nothing 2 Wang et al [ 19 ] 32 M L No operation unknown Unknown 3 Nasto et al [ 20 ] 17.8 ± 2.8 19 M, 5F TL PSF good Unknown 4 Van Loon et al [ 21 ] 41.6 ± 7.1 30 M, 8F L and TL PSF Good No major complication 5 Tsirikos et al [ 22 ] 17 12 M F TL TL PSF, PSF + ASF Good Nothing 6 Lamartina et al [ 14 ] 27 M T PSF Good Nothing 7 Heegaard et al [ 16 ] 23.0 (median) 14 M, 8F T and TL PSF Fair 77 % complication rate 8 Lonner et al [ 23 ] 16.5 ± 2.0 57 M, 40F T and TL Unknown Good 16 % complication rate 9 Coe et al [ 15 ] 5–75 (mean 21.0) ...…”