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Journal of Medical Case Reports Volume 2 ,Issue 1 ,2008-08-11
Achondroplasia manifesting as enchondromatosis and ossification of the spinal ligaments: a case report
Ali Al Kaissi 1 Rudolf Ganger 1 Klaus Klaushofer 2 Monika Rumpler 2 Franz Grill 1
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DOI:10.1186/1752-1947-2-263
Received 2007-12-6, accepted for publication 2008-08-11, Published 2008-08-11
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摘要

Introduction A girl presented with achondroplasia manifested as mild knee pain associated with stiffness of her back. A skeletal survey showed enchondroma-like metaphyseal dysplasia and ossification of the spinal ligaments. Magnetic resonance imaging of the spine further clarified the pathological composites. Case presentation A 7-year-old girl presented with the classical phenotypic features of achondroplasia. Radiographic documentation showed the co-existence of metaphyseal enchondromatosis and development of spinal bony ankylosis. Magnetic resonance imaging showed extensive ossification of the anterior and posterior spinal ligaments. Additional features revealed by magnetic resonance imaging included calcification of the peripheral vertebral bodies associated with anterior end-plate irregularities. Conclusion Enchondromas are metabolically active and may continue to grow and evolve throughout the patient's lifetime; thus, progressive calcification over a period of years is not unusual. Ossification of the spinal ligaments has a specific site of predilection and often occurs in combination with senile ankylosing vertebral hyperostosis. Nevertheless, ossification of the spinal ligaments has been encountered in children with syndromic malformation complex. It is a multifactorial disease in which complex genetic and environmental factors interact, potentially leading to chronic pressure on the spinal cord and nerve roots with subsequent development of myeloradiculopathy. Our patient presented with a combination of achondroplasia, enchondroma-like metaphyseal dysplasia and calcification of the spinal ligaments. We suggest that the development of heterotopic bone formation along the spinal ligaments had occurred through an abnormal ossified enchondral mechanism. We postulate that ossification of the spinal ligaments and metaphyseal enchondromatous changes are related to each other and represent impaired terminal differentiation of chondrocytes in this particular case. Standard radiographic examination showed spinal bony ankylosis only. The pathological composites of the vertebrae have been clarified using scanning technology. Extensive spinal ligament ossification associated with calcification of the peripheral vertebral bodies and anterior end-plate irregularities were notable. We report what may be a novel spinal and extraspinal malformation complex in a girl with achondroplasia.

授权许可

2008 Al Kaissi et al; licensee BioMed Central Ltd.
http://creativecommons.org/licenses/by/2.0/

图表

Figure 1. Anteroposterior radiograph of the pelvis showing rounded iliac bones, a horizontal acetabular roof and small sacroiliac notes. Coxa vara with defective modelling of the femoral necks associated with metaphyseal dysplasia with no trace of enchondromatous lesions.

Figure 2. Anteroposterior radiograph of the knee showing multiple small enchondroma-like metaphyseal dysplasias. The distal femoral and the proximal tibial bones show metaphyseal cupping with multiple enchondromatous lesions and an abnormal metaphyseal trabecular pattern associated with small round rings and arcs and dense foci is as intended here within the metaphysis.

Figure 3. Anteroposterior radiograph of the ankle joint showing enchondromas with the appearance of linear lucencies. The chondrocytes appear to line up in a vertical orientation along the epimetaphyseal components associated with sclerosis of the articular surface.

Figure 4. Lateral thoracic spine radiogram showing extensive ossification of the anterior (white arrow) and the posterior longitudinal ligaments with the development of long bony ankylosis with no skip areas along the posterior aspect (black arrow).

Figure 5. Magnetic resonance imaging of the lower thoracic spine with sagittal T2 fast spin echo sequences showing the ossified anterior longitudinal ligament with subsequent anterior vertebral hyperostosis and bridging (arrows). In addition there was involvement of the posterior longitudinal ligament. Peripheral sclerotic borders associated with anterior end plate irregularities have outlined the overall vertebral bodies.

通讯作者

Ali Al Kaissi. Orthopaedic Hospital of Speising, Paediatric Department, Vienna, Austria .ali.alkaissi@osteologie.at

推荐引用方式

Ali Al Kaissi,Rudolf Ganger,Klaus Klaushofer,Monika Rumpler,Franz Grill. Achondroplasia manifesting as enchondromatosis and ossification of the spinal ligaments: a case report. Journal of Medical Case Reports ,Vol.2, Issue 1(2008)

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