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Sly disease/β-glucuronidase deficiency/mucopolysaccharidosis VII
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
Most patients have had frequent upper respiratory infections, and pneumonia has occurred in some. Hernias, shortness of stature [1], relative macrocephaly, and coarse features are regularly observed. Most have had gingival hyperplasia. Gibbus deformity has regularly been reported.
Test Paper 2
Published in Teck Yew Chin, Susan Cheng Shelmerdine, Akash Ganguly, Chinedum Anosike, Get Through, 2017
Teck Yew Chin, Susan Cheng Shelmerdine, Akash Ganguly, Chinedum Anosike
Infection usually begins in the anterior part of the vertebral body adjacent to the end plate. Subsequent demineralisation of the end plate results in loss of definition of its dense margins on conventional radiographs. These end plate changes allow the spread of infection to the adjacent intervertebral disk, resulting in a classic pattern of involvement of more than one vertebral body together with the intervening disks. It also allows spread into the paraspinal tissues, resulting in the formation of a paravertebral abscess. However, if there is anterior subligamentous involvement of the spine, infection can extend both superiorly and inferiorly, with sparing of the intervertebral disks. A normal chest radiograph is present in up to 50% of cases. In the later stages of disease, there is often vertebral collapse with a gibbus deformity.
The back
Published in Ashley W. Blom, David Warwick, Michael R. Whitehouse, Apley and Solomon’s System of Orthopaedics and Trauma, 2017
There is usually a long history of ill health and backache; in late cases a gibbus deformity is the dominant feature. Concurrent pulmonary TB is a feature in most children under 10 years with thoracic spine involvement. Occasionally the patient may present with a cold abscess pointing in the groin, or with paraesthesiae and weakness of the legs. There is local tenderness in the back and spinal movements are restricted.
Clinical and radiological outcome of non-surgical management of thoracic and lumbar spinal fracture-dislocations — a historical analysis in the era of modern spinal surgery
Published in The Journal of Spinal Cord Medicine, 2020
Andrei Fernandes Joaquim, Gregory D. Schroeder, Alpesh A. Patel, Alexander R. Vaccaro
An external gibbus deformity developed in two patients with complete neurological deficits. Both underwent resection of the spinous process allowing rehabilitation. Six patients had severe pain syndrome and two pulmonary embolisms. There was no no-union. Mean time of immobilization was 73 days, compared with 25 in the Dickson et al. series and mean hospitalization time was 163 days, compared with 107 days in the surgical series. The authors concluded that surgery and conservative treatment had similar outcomes, and, therefore, conservative treatment should prevail. Early surgical treatment should be considered when there was an unsuccessful reduction of vertebral displacement, locked facet joints, for irritable and restless patients that cannot be controlled and for separation of the vertebral bodies that soft-tissue interposition between them.
Three column osteotomy for adult spine deformity: comparison of outcomes and complications between kyphosis and kyphoscoliosis
Published in British Journal of Neurosurgery, 2018
Jun Qiao, Lingyan Xiao, Xu Sun, Zhen Liu, Zezhang Zhu, Bangping Qian, Yong Qiu
Kyphosis refers to abnormally excessive convex kyphotic curvature of the spine as it occurs in the cervical, thoracic and sacral regions.1 Kyphosis could be classified as postural kyphosis, Scheuermann's kyphosis, congenital kyphosis, nutritional kyphosis, Gibbus deformity and post-traumatic kyphosis.2 Kyphoscoliosis describes an abnormal curvature of the spine in both a coronal and sagittal plane.3 It is a combination of kyphosis and scoliosis. Kyphoscoliosis may manifest in an individual at different stages of life and for various etiologies. In addition to cosmetic problems, many patients have significant back pain and functional disability due to the spinal imbalance associated with the kyphosis or kyphoscoliosis.4 For severe rigid kyphosis and kyphoscoliosis, three-column osteotomies, including pedicle subtraction osteotomy and vertebral column resection could provide adequate correction of the deformity.5–7 To date, no study has examined the difference in surgical outcomes and complications between these two types of spine deformities. The aim of this study was to compare the surgical outcomes and complications between kyphosis and kyphoscoliosis when using three-column osteotomies.
Closure of a large myelomeningocele defect using the V–Y rotation advancement flap (butterfly flap): a case report and literature review
Published in Case Reports in Plastic Surgery and Hand Surgery, 2021
Hatan Mortada, Tareg Alhablany, Tanveer A. Bhat, Abdulla Al Tamimi
MMC defects can represent a challenging reconstructive challenge when the defect exceeds half of the back width. Approximately 25% of the defects cannot be managed with primary closure alone and require more advanced correction procedures. Most cases require primary closure with or without subcutaneous detachments [8]. Large or extensive soft-tissue defects require a more complicated approach. After MMC repair, reconstructions of large or extensive soft tissue defects have always been challenging for both plastic surgeons and neurosurgeons. A major issue is that the defect itself is large. Nevertheless, insufficient soft tissue may not be available to apply distance flap variations because the newborn has a restricted area in the back region [4,9]. Many various reconstructive options for large MMC defect closure have been mentioned in the literature. Therefore, we also conducted a literature review of all different methods used for large MMC closures (Table 1). In 1966, the first MMC surgery was initiated by applying the skin graft by Mustarde [10]. Previous studies using skin grafts for MMC found that some complications, such as graft ulceration, gibbus deformity, and severe kyphosis, and using split-thickness skin graft can lead to graft contraction. Because of these complications, the skin graft method does not offer sufficient tissue coverage over the repaired neural plate. Subsequently, musculocutaneous, muscle, and fasciocutaneous flaps have become more well known. In 1971, Desperez et al. [11] used a bipedicled thoracolumbar musculocutaneous flap to reconstruct a large MMC defect. One drawback of this method is that the donor area is usually closed with STSG due to the large donor area morbidity. McCraw et al. [12] have investigated the musculocutaneous flap LD method using double LD muscles. Both papers pointed out some issues, specifically, impossibility to reach for sacral MMC defects. The LD musculocutaneous flap does not have sufficient length for transfer to the sacral region and donor area grafting. They found that more than average blood loss was another disadvantage of their techniques. Regarding local flap methods, Cole et al. [13] applied purse-string suturing for small to medium MMC defects.