A CARE-compliant article: A case report of scoliosis complicated with multicentric carpotarsal osteolysis

Abstract

Rationale:Multicentric carpotarsal osteolysis (MCTO) is a rare hereditary disease caused by mutations in MafB, a negative regulator of osteoclastogenesis.Patient concerns:A 20-year-old, Japanese woman with scoliosis visited our institute for treatment. Scoliosis was apparent since she was 12 years old, but she had not sought treatment until the age of 19. Medical examination showed a typical facial appearance associated with a small forehead and hypotelorism; shortening of the fingers of both hands and both upper limbs was observed, in addition to clubfoot. No café au lait spots or mental retardation were observed. On the other hand, the trunk showed evidence of an irregular waistline and a rib hump that obviously suggested scoliosis. Neurological deficit was not observed. Spirometry showed decreased forced vital capacity (FVC). Although proteinuria was observed, renal dysfunction and hypertension were not seen. The major curve of scoliosis was 82° (MC, Th7-L2; Th11 apical vertebra), and the upper curve was 77° (UC, Th1-6; Th3 apical vertebra). In a recumbent-traction position, the major curve was 54° and the upper curve was 56°. The pelvic incidence minus lumbar lordosis (PI-LL) angle was <10° and no mismatch was observed; thoracic kyphosis was decreased to 16°.Diagnosis:The patient was diagnosed with symptomatic scoliosis secondary to MCTO.Interventions:We decided to perform a correction and fusion from Th2 to L3 using a posterior spinal instrumentation.Outcomes:Postoperative x-ray demonstrated scoliosis angle correction from 77° to 38° at Th1-6 and 82° to 39° at Th7-L2. Postoperative x-ray demonstrated thoracic kyphosis angle correction from 16° to 21°. The patient's height increased from 155 to 161cm.Lessons:It has been 24 months since the operation, and no exacerbation has been observed. To the best of our knowledge, this is the first report of surgical treatment of scoliosis secondary to MCTO.