Scoliosis Correction Surgery in Collagen Type VI Dysfunction
Background: Collagen VI (COLVI) dysfunction results in a combination of connective tissue and muscular disorders. Spinal involvement and development of scoliosis precede loss of ambulation and respiratory deterioration in these patients. Therefore, spinal deformity correction surgery is warranted t...
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Tehran University of Medical Sciences
2020-05-01
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doaj-738207c3310a40c6aab2e3748dbe1e742021-07-28T07:06:10ZengTehran University of Medical SciencesJournal of Orthopedic and Spine Trauma2538-23302538-46002020-05-014310.18502/jost.v4i3.3081Scoliosis Correction Surgery in Collagen Type VI DysfunctionBabak Mirzashahi0Furqan Mohammed Yaseen Khan1Rasul Gharakhan Maleki2Mahdi Heshmatifar3Professor, Department of Orthopedics and Spine Surgery, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, IranResident, Department of Orthopedic Surgery,Imam Khomeini Hospital Complex,Tehran University of Medical Sciences, Tehran, IranResident, Department of Orthopedic Surgery,Imam Khomeini Hospital Complex,Tehran University of Medical Sciences, Tehran, IranResident, Department of Orthopedic Surgery,Imam Khomeini Hospital Complex,Tehran University of Medical Sciences, Tehran, Iran Background: Collagen VI (COLVI) dysfunction results in a combination of connective tissue and muscular disorders. Spinal involvement and development of scoliosis precede loss of ambulation and respiratory deterioration in these patients. Therefore, spinal deformity correction surgery is warranted to preserve ambulation and respiratory function. Case Presentation: A twelve-year-old girl presented with progressive scoliosis accompanying respiratory deterioration, sitting imbalance, and wheelchair-bound. The patient demonstrated an array of overlapping phenotypes related to COLVI dysfunction, including developmental delay, muscular dystrophy (MD), fatty replacement of skeletal muscles, and reduced bone mineral density to mention few. Patient was diagnosed with COLVI dysfunction caused by COLVI alpha 2 (COL6A2) gene mutation. She had severe phenotype expression similar to Ullrich congenital MD (UCMD). A Cobb angle of 85 degrees and thoracic kyphosis of 40 degrees were recorded. Surgical correction was performed in the form of spinal fusion from T4 to S1 in addition to multiple level vertebral osteotomies. Conclusions: Respiratory distress and ambulatory problems are life-endangering events in these patients. As the disease progresses and respiratory distress increases, anesthesia becomes more difficult and the risk of surgery increases. Therefore, early intervention for correction of scoliosis is warranted to support the quality of life. Surgical time has to be kept as short as possible to minimize blood loss in these patients. https://jost.tums.ac.ir/index.php/jost/article/view/116Collagen Type VI; Scoliosis; Collagen TypeVIalpha2 Chain; Mutation; Congenital |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Babak Mirzashahi Furqan Mohammed Yaseen Khan Rasul Gharakhan Maleki Mahdi Heshmatifar |
spellingShingle |
Babak Mirzashahi Furqan Mohammed Yaseen Khan Rasul Gharakhan Maleki Mahdi Heshmatifar Scoliosis Correction Surgery in Collagen Type VI Dysfunction Journal of Orthopedic and Spine Trauma Collagen Type VI; Scoliosis; Collagen TypeVI alpha2 Chain; Mutation; Congenital |
author_facet |
Babak Mirzashahi Furqan Mohammed Yaseen Khan Rasul Gharakhan Maleki Mahdi Heshmatifar |
author_sort |
Babak Mirzashahi |
title |
Scoliosis Correction Surgery in Collagen Type VI Dysfunction |
title_short |
Scoliosis Correction Surgery in Collagen Type VI Dysfunction |
title_full |
Scoliosis Correction Surgery in Collagen Type VI Dysfunction |
title_fullStr |
Scoliosis Correction Surgery in Collagen Type VI Dysfunction |
title_full_unstemmed |
Scoliosis Correction Surgery in Collagen Type VI Dysfunction |
title_sort |
scoliosis correction surgery in collagen type vi dysfunction |
publisher |
Tehran University of Medical Sciences |
series |
Journal of Orthopedic and Spine Trauma |
issn |
2538-2330 2538-4600 |
publishDate |
2020-05-01 |
description |
Background: Collagen VI (COLVI) dysfunction results in a combination of connective tissue and muscular disorders. Spinal involvement and development of scoliosis precede loss of ambulation and respiratory deterioration in these patients. Therefore, spinal deformity correction surgery is warranted to preserve ambulation and respiratory function.
Case Presentation: A twelve-year-old girl presented with progressive scoliosis accompanying respiratory deterioration, sitting imbalance, and wheelchair-bound. The patient demonstrated an array of overlapping phenotypes related to COLVI dysfunction, including developmental delay, muscular dystrophy (MD), fatty replacement of skeletal muscles, and reduced bone mineral density to mention few. Patient was diagnosed with COLVI dysfunction caused by COLVI alpha 2 (COL6A2) gene mutation. She had severe phenotype expression similar to Ullrich congenital MD (UCMD). A Cobb angle of 85 degrees and thoracic kyphosis of 40 degrees were recorded. Surgical correction was performed in the form of spinal fusion from T4 to S1 in addition to multiple level vertebral osteotomies.
Conclusions: Respiratory distress and ambulatory problems are life-endangering events in these patients. As the disease progresses and respiratory distress increases, anesthesia becomes more difficult and the risk of surgery increases. Therefore, early intervention for correction of scoliosis is warranted to support the quality of life. Surgical time has to be kept as short as possible to minimize blood loss in these patients.
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topic |
Collagen Type VI; Scoliosis; Collagen TypeVI alpha2 Chain; Mutation; Congenital |
url |
https://jost.tums.ac.ir/index.php/jost/article/view/116 |
work_keys_str_mv |
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