Achondroplasia manifesting as enchondromatosis and ossification of the spinal ligaments: a case reportReportar como inadecuado

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Journal of Medical Case Reports

, 2:263

First Online: 11 August 2008Received: 06 December 2007Accepted: 11 August 2008DOI: 10.1186-1752-1947-2-263

Cite this article as: Al Kaissi, A., Ganger, R., Klaushofer, K. et al. J Med Case Reports 2008 2: 263. doi:10.1186-1752-1947-2-263


IntroductionA 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 presentationA 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.

ConclusionEnchondromas 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.

AbbreviationsFGFR3Fibroblast growth factor receptor 3

MRIMagnetic resonance imaging

OFCOccipito-frontal circumference.

Electronic supplementary materialThe online version of this article doi:10.1186-1752-1947-2-263 contains supplementary material, which is available to authorized users.

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Autor: Ali Al Kaissi - Rudolf Ganger - Klaus Klaushofer - Monika Rumpler - Franz Grill


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