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

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 year...

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Autores principales: Miyazaki, Kunihiko, Komatsubara, Satoshi, Uno, Koki, Fujihara, Ryuji, Yamamoto, Tetsuji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6890279/
https://www.ncbi.nlm.nih.gov/pubmed/31770198
http://dx.doi.org/10.1097/MD.0000000000017828
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author Miyazaki, Kunihiko
Komatsubara, Satoshi
Uno, Koki
Fujihara, Ryuji
Yamamoto, Tetsuji
author_facet Miyazaki, Kunihiko
Komatsubara, Satoshi
Uno, Koki
Fujihara, Ryuji
Yamamoto, Tetsuji
author_sort Miyazaki, Kunihiko
collection PubMed
description 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 161 cm. 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.
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spelling pubmed-68902792020-01-22 A CARE-compliant article: A case report of scoliosis complicated with multicentric carpotarsal osteolysis Miyazaki, Kunihiko Komatsubara, Satoshi Uno, Koki Fujihara, Ryuji Yamamoto, Tetsuji Medicine (Baltimore) 7100 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 161 cm. 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. Wolters Kluwer Health 2019-11-27 /pmc/articles/PMC6890279/ /pubmed/31770198 http://dx.doi.org/10.1097/MD.0000000000017828 Text en Copyright © 2019 the Author(s). Published by Wolters Kluwer Health, Inc. http://creativecommons.org/licenses/by/4.0 This is an open access article distributed under the Creative Commons Attribution License 4.0 (CCBY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. http://creativecommons.org/licenses/by/4.0
spellingShingle 7100
Miyazaki, Kunihiko
Komatsubara, Satoshi
Uno, Koki
Fujihara, Ryuji
Yamamoto, Tetsuji
A CARE-compliant article: A case report of scoliosis complicated with multicentric carpotarsal osteolysis
title A CARE-compliant article: A case report of scoliosis complicated with multicentric carpotarsal osteolysis
title_full A CARE-compliant article: A case report of scoliosis complicated with multicentric carpotarsal osteolysis
title_fullStr A CARE-compliant article: A case report of scoliosis complicated with multicentric carpotarsal osteolysis
title_full_unstemmed A CARE-compliant article: A case report of scoliosis complicated with multicentric carpotarsal osteolysis
title_short A CARE-compliant article: A case report of scoliosis complicated with multicentric carpotarsal osteolysis
title_sort care-compliant article: a case report of scoliosis complicated with multicentric carpotarsal osteolysis
topic 7100
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6890279/
https://www.ncbi.nlm.nih.gov/pubmed/31770198
http://dx.doi.org/10.1097/MD.0000000000017828
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