1/10. Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease.Follow-up and re-evaluation of four patients originally described as examples of severe infantile "micromelic chondrodysplasia" resembling Kniest disease, "kyphomelic dysplasia," and "Burton skeletal dysplasia" revealed the diagnosis of Schwartz-Jampel syndrome (SJS, myotonic chondrodysplasia) in all of them. SJS may be suspected in neonates with Kniest-like chondrodysplasia, congenital bowing of shortened femora and tibiae, and facial manifestations consisting of a small mouth, micrognathia, and possibly pursed lips. The disorder must be differentiated from the Stuve-Wiedemann syndrome, a genetically distinct myotonic chondrodysplasia with similar clinical but different skeletal changes and an unfavorable early prognosis. The demise of "kyphomelic dysplasia" as a nosological entity reemphasizes the symptomatic nature of congenital bowing of the long bones.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
2/10. A case report of severe kyphoscoliosis and autofusion of the posterior elements in two siblings with central core disease.STUDY DESIGN: A case report of two siblings (ages 14 and 17 years) with central core disease and prior malignant hyperthermia successfully treated with spinal fusion surgery for severe kyphoscoliosis. OBJECTIVES: Our objectives were as follows: to describe the previously unreported findings of posterior element autofusion and ligamentum flavum ossification; to increase surgeon awareness to the nature of this condition and associated findings; and to prepare the surgeons for the possibility of autofusion and the required surgical modifications, including extensive osteotomies at the time of spinal fusion surgery to achieve correction based on these findings. SUMMARY OF BACKGROUND DATA: Central core disease is a rare congenital myopathy with a reported association with kyphoscoliosis. Spinal deformity of this severity in central core disease has not previously been reported in the literature. methods: Two siblings with central core disease, history of malignant hyperthermia, and severe kyphosing scoliosis (187 degrees and 108 degrees) underwent correction of deformity and spinal fusion surgery. The clinical, operative, and radiographic features are detailed. RESULTS: The spinal deformities associated with central core disease in these 2 cases were severe. The posterior elements underwent autofusion necessitating alteration in surgical technique to correct the deformity. Despite the risks of malignant hyperthermia and the difficulty of surgical correction, good clinical improvements can be achieved even in cases of severe deformity. CONCLUSIONS: A diagnosis of central core disease must be considered in patients presenting with severe spinal deformity and myopathic symptoms. This spinal deformity may be progressive and become severe. Surgical intervention in these cases may be complicated by posterior element autofusion necessitating alteration in surgical technique to correct the deformity. Despite the risk of malignant hyperthermia, surgery may be performed safely.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
3/10. Neurofibromatosis type I with severe dystrophic kyphoscoliosis and its operative management via a simultaneous anterior-posterior approach: a case report and review of the literature.BACKGROUND CONTEXT: Neurofibromatosis is an autosomal-dominant hereditary disorder with two subtypes: NF-1 (type I) and NF-2 (type II). NF-1 is a complex disorder with a constellation of manifestations that can also entail skeletal abnormalities, including spinal deformity of a noncongenital nature with early age onset. The short, sharp, angular curve usually present in the thoracic region, as exhibited in NF-1, presents a quandary in its surgical management. Various studies have reported on the efficacy of anterior correction as opposed to posterior alone, whereas others have advocated a sequential, combined approach to diminish the degree of deformity and achieve solid arthrodesis. However, despite solid arthrodesis, curve progression may still ensue. Nonetheless, a simultaneous anterior-posterior approach to treat such a condition of NF-1 with severe dystrophic kyphoscoliosis is a rare occurrence. PURPOSE: To describe the presentation and operative management of a patient with NF-1 and severe dystrophic kyphoscoliosis. STUDY DESIGN: A case report and review of the literature. methods: A clinical and radiographic review of a 51-year-old male patient who presented with NF-1, a 165-degree thoracic kyphotic deformity, associated scoliosis, varied degree of vertebral destruction of T9-T11, and paraparesis below T10. RESULTS: Operative intervention of the deformity consisted of a simultaneous anterior-posterior approach and entailed posterior cord exposure, anterior vertebrectomy of T9-T11, cord decompression, posterior osteotomy (posterior elements were auto-fused), anterior distraction and kyphosis correction, anterior strut grafting, anterior rod instrumentation, and posterior compression instrumentation and fusion from T6-L2. The deformity was reduced, sold fusion was noted, and the patient was asymptomatic. CONCLUSIONS: A simultaneous anterior-posterior approach for the surgical treatment of severe dystrophic kyphoscoliosis in neurofibromatosis type I is an avenue to properly visualize the spinal cord, achieve solid arthrodesis, and to minimize as well as prevent the progression of deformity.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
4/10. Acute airway obstruction, hypertension and kyphoscoliosis.An elderly woman developed acute respiratory obstruction after choking on a bolus of food. On rigid bronchoscopy no foreign body, or anatomical obstruction was seen, but airway obstruction recurred during emergence from general anaesthesia, and was thought to be functional in nature. A recurring airway obstruction followed, relieved by induction of anaesthesia and by sedation. This was subsequently demonstrated to be caused by a tortuous aorta which impinged intermittently on the anterior tracheal wall, as a result of kyphoscoliosis of the thoracic spine. We attribute the relief of airway obstruction by general anaesthesia to a reduction in arterial blood pressure.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
5/10. Lumbosacral kyphosis, tethered cord, and diplomyelia. A unique spinal dysraphic condition.Four patients are described with a triad of neuroectodermal abnormalities consisting of lumbosacral kyphosis, tethered cord, and dyplomyelia. Of utmost importance is the recognition of the association between this type of kyphosis and the underlying spinal cord pathology and the progressive nature of the deformity. The patient presenting with lumbosacral kyphos and the presence of sacral hypoplasia should have a neuroradiographic evaluation (magnetic resonance imaging scanning or enhanced computed tomography) to rule out the presence of a tethered cord or other neural abnormalities. Early surgical intervention for release of the tether and fusion should be carried out to prevent neurologic deterioration and curve progression.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
6/10. Manubriosternal joint dislocation in rheumatoid arthritis: the role of thoracic kyphosis.A case report of manubriosternal joint (MSJ) dislocation in a rheumatoid patient with thoracic kyphosis is presented together with a review of the relevant literature. Variations in the anatomical nature of the MSJ between normal individuals are described. In 43% of the population its characteristics are noted to be such that it may be involved in rheumatoid arthritis (RA). A joint thus involved can be dislocated by forces generated by longstanding thoracic kyphosis and transmitted to the manubrium via the first rib. Xeroradiographs of the MSJ region in our patient showed dislocation of the joint in the upright position and its subsequent reduction on lying the patient flat. We suggest that this demonstrated reduction is secondary to the lessening of the thoracic kyphosis that occurs in the supine position. It is concluded that in RA MSJ dislocation is a function of thoracic kyphosis.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
7/10. Severe kyphosis due to congenital dorsal hemivertebra.Kyphotic deformity arising from failure of the formation of a vertebral body is described in nine patients. The study of the natural history demonstrates the progressive nature of this disorder resulting in severe deformity and neurological embarrassment. Early radiological recognition of this congenital deformity is essential and tomography is important in the early assessment. tomography combined with myelography is essential to delineate the extent of bony abnormality and cord compression in severe kyphosis in order that adequate decompression and reconstructive surgery can be performed.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
8/10. spinal cord injury rehabilitation. 5. Through the lifespan.This self-directed learning module highlights new advances in this topic area. It is part of the chapter on spinal cord injury rehabilitation in the Self-Directed Physiatric education Program for practitioners and trainees in physical medicine and rehabilitation. This section explores the medical, psychologic, and social challenges facing an individual with an acquired spinal cord injury. Special emphasis is placed on the dynamic nature of these issues as one progresses through the lifespan.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
9/10. Progressive congenital kyphosis: report of five cases and review of the literature.For over 60 years congenital kyphotic deformities of the spine have been categorized into two distinct groups, depending on the developmental defect. Those arising from a failure of formation of the vertebral bodies were classified as type 1, while those arising from a failure of segmentation were referred to as type 2. Recognition of the progressive and unstable nature of the type 1 defects alerted physicians to the need for early operative stabilization through decompression and stabilization through instrumentation. As the embryogenesis of the spinal column was further investigated, and as diagnostic imaging methods of the spine improved, unstable congenital kyphoses were further subdivided. Progressive congenital kyphotic deformities now may accompany a host of vertebral column developmental defects as well as genetically mediated mesenchymal tissue defect syndromes. This paper presents 5 patients from The Children's Hospital of philadelphia with progressive and symptomatic congenital kyphotic deformities of the spine. Two of these lesions resulted from defects of formation of the vertebral bodies, while one resulted from segmental spinal dysgenesis, maldevelopment of both the anterior and posterior vertebral elements. One patient's kyphotic deformity was a result of caudal regression syndrome, and the final case presented experienced a high thoracic kyphosis from a syndrome associated diffuse midline mesenchymal tissue abnormalities known as cerebrocostomandibular syndrome. All patients showed evidence of progressive cord compression and required neural element decompression, fusion, and instrumentation. The cases are discussed individually, and the developmental and clinical aspects of each are explored.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
10/10. common variable immunodeficiency with CD4 T lymphocytopenia and overproduction of soluble IL-2 receptor associated with Turner's syndrome and dorsal kyphoscoliosis.An unusual combination of common variable immunodeficiency (CVID) and Turner's syndrome in a Saudi woman aged 20 years is presented. In addition to panhypogammaglobulinaemia, the patient had CD4 T lymphocytopenia; however, there was evidence of in vivo activation of T cells and overproduction of soluble interleukin 2 receptor in culture supernate. Mantoux test was positive, but lymphoblastic response to non-specific mitogen was impaired. Immunogenetically the patient was HLA-DR3 positive and karyotypically she was a mosaic (45XO/46XX) with ring x chromosome (46Xr(X)). The presence of severe kyphoscoliosis was possibly related to ring x chromosome. This case highlights the grave consequences of the delayed diagnosis of immunodeficiency and emphasises the heterogeneous nature of CVID.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
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