Familial lumbar Scheuermann disease with idiopathic scoliosis in China: First case report

RATIONALE: Given that Scheuermann disease rarely occurs in the lumbar region and that the co-occurrence of Scheuermann disease and idiopathic scoliosis (IS) has not been reported—the etiology of Scheuermann disease and IS is not clear. In this case report, we present familaiar lumbar Scheuermann disease with IS, in a Chinese proband, who was successfully treated with surgery. PATIENT CONCERNS: A 16-year-old boy presented at the Second XiangYa Hospital of Central South University with a chief complaint of kyphotic deformity in the lower back for 4 years and obvious lower back pain. In addition, he complained of limited lumbar activity. And The proband's family history was obtained by routine inquiring. In this Chinese family with 17 members over 3 generations. The 3 patients (proband, proband's sister and father) shared the characteristics of vertebral wedging from L1 to L3 and a kyphosis Cobb angle of 37°, 70°, or 73°, respectively. The main deformity of the proband's mother was at T7-L1 with a Cobb angle of 102° in the coronal plane at T7-L1, thoracic kyphosis of 73°, and lumbar lordosis of 62°. DIAGNOSES: Scheuermann's disease. INTERVENTIONS: Clinical history, physical examination, laboratory tests, and radiographs of those in the pedigree were recorded, and the related literature was reviewed. The proband accepted osteotomy and orthopedic surgery for treatment. OUTCOMES: After 3 months of treatment, postoperative lateral radiographs showed a significantly improved sagittal vertical axis (SVA). The other patients were continued to be seen in follow-up visits. LESSONS: This series of lumbar Scheuermann patients with IS in a pedigree support the genetic contribution to Scheuermann disease. Therefore, this study provides some insight into the genetic etiology of Scheuermann disease with IS.