Multiple disc herniations in spondyloepiphyseal dysplasia tarda

Nakamura, Ichiro; Hoshino, Yuichi

doi:10.1007/s002640050288

Cited by 6 publications

(2 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…For the need for spinal surgery, neurological deficits are the primary consideration, especially for those with neurological deterioration [ 21 ]. As early as 1998, Nakamura et al [ 16 ] reported that a man engaged in heavy labor underwent two-time laminectomy decompression surgery due to multiple herniated discs, and his preoperative symptoms were significantly improved. For the simultaneous presence of osteoporosis and kyphosis, simple spinal decompression may not achieve good spinal stability, and internal fixation and fusion surgery are considered safe and effective [ 14 ].…”

Section: Discussionmentioning

confidence: 99%

Multiple disc herniation in spondyloepiphyseal dysplasia tarda: A rare case report and review of the literature

Chen

Zhang

et al. 2022

BMC Musculoskelet Disord

View full text Add to dashboard Cite

Background Spondyloepiphyseal dysplasia tarda (SEDT) is a rare, hereditary, X-linked skeletal disorder. To our knowledge, there are few reports about orthopedic surgery in these patients. This is the first report on patients with SEDT undergoing spinal and fracture reduction surgery. Case presentation A 31-year-old male patient who had been misdiagnosed with juvenile idiopathic arthritis (JIA) for 20 years and who had been treated with femoral shaft internal fixation for lower extremity fracture caused by minor trauma presented at hospital with stiffness and weakness in the lower extremities for the past two years. Radiographs showed bony dysplastic features of flattened vertebral bodies, Scheuermann-like changes in the spine, and osteoarthritis-like changes in the joints. Laboratory examination, including routine blood tests and rheumatism-related indicators showed negative results. Considering the history, radiology, and genetic findings, a diagnosis of spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) was considered. Further neurological examination indicated that severe spinal cord compression was an important reason for the patient’s inability to walk. Laminectomy, spinal canal decompression, internal fixation and fusion were performed. Clinical outcome was satisfactory at one-year follow-up. The lower-limb fatigue was relieved, the patient could walk independently, and his examination showed osseous fusion. The English database was searched and the literature was reviewed for the relevant keywords of “SEDT-PA”. Conclusions Progress has been made in genetic research on SEDT; early diagnosis is particularly important, but the clinical diagnosis and treatment plans are still evaluated on a case-by-case basis. The best treatment for SEDT is to identify patients with progressive neurological and joint-mobility impairments and perform appropriate surgical intervention. Surgical intervention can improve neurological function and quality of life. However, surgery, as palliative care, does not alter the progression of the disease.

show abstract

Section: Discussionmentioning

confidence: 99%

Multiple disc herniation in spondyloepiphyseal dysplasia tarda: A rare case report and review of the literature

Chen

Zhang

et al. 2022

BMC Musculoskelet Disord

View full text Add to dashboard Cite

show abstract

“…Spondyloepiphyseal dysplasia comprises a heterogeneous group of dysplasias that include such features as short stature and clinical and radiographic anomalies of the spine with platyspondyly and epiphyses, especially in the hip, knee, and hands (17–29). The differential diagnosis between these dysplasias and DMCS is the presence of spondyloepiphyseal dysplasia tarda with gibbosity or protrusions on both vertebral ends and low epiphyseal implication; Kozlowski's spondylometaphyseal dysplasia with significant thoracic‐lumbar kyphosis and metaphyseal changes; Maroteaux‐Lamy spondyloepiphyseal dysplasia with atloaxoid dislocation, hypertrophy of the PCVL, and important acetabular changes; Stanescu dysplasia (autosomal‐dominant with metaphyseal broadening of the knees, but of a virtually normal size); and Morquio syndrome with extraskeletal lesions (cornea and teeth) and urinary mucopolysaccharides excretion (10, 17, 20–26). Radiological descriptions of this group of dysplasias have been reported in several studies (6–8, 11, 14).…”

Section: Discussionmentioning

confidence: 99%

MRI findings in Dyggve‐Melchior‐Clausen syndrome, a rare spondyloepiphyseal dysplasia

Carbonell

Fernández

Vicente-Franqueira

2005

Magnetic Resonance Imaging

View full text Add to dashboard Cite

We present the case of an 8-year-old female patient with bone dysplasia as part of Dyggve-Melchior-Clausen syndrome (DMCS). MRI was used to evaluate the case. In the spine, odontoid apophysis aplasia was found with no ossification nucleus, vertebrae with central hump, disk protrusions, hypertrophy of the posterior common vertebral ligament, and hidden spina bifida at the S4 level. Morphological anomalies were found in the hips both in the proximal femoral epiphysis, which was located excentrically and laterally to the femoral neck, and in the Y-cartilage, which was greatly enlarged. In the knees, anterior crossed ligaments were not seen, although there were some indirect signs that indicated congenital absence, including hypoplasia of the femoral trochlea and the intercondylar notch. There was bilateral medial patellar plicae and asymmetry in the height of the distal femoral and proximal tibial physes, as well as dysplasia of the facets of the patella. In comparison with radiography, MRI provides a much clearer definition of the aspects of bone dysplasia that are related to DMCS, including morphological changes in the soft tissue and cartilage of the spine, hips, and knees. MRI can enhance our understanding of the pathogenesis and evolution of deformities.

show abstract

Spondyloepiphyseal Dysplasia Tarda

Abnormal Skeletal Phenotypes

View full text Add to dashboard Cite

Multiple disc herniations in spondyloepiphyseal dysplasia tarda

Cited by 6 publications

References 17 publications

Multiple disc herniation in spondyloepiphyseal dysplasia tarda: A rare case report and review of the literature

Multiple disc herniation in spondyloepiphyseal dysplasia tarda: A rare case report and review of the literature

MRI findings in Dyggve‐Melchior‐Clausen syndrome, a rare spondyloepiphyseal dysplasia

Spondyloepiphyseal Dysplasia Tarda

Contact Info

Product

Resources

About