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Osteoporotic compression fracture revealing Hajdu-Cheney Syndrome
Joint Bone Spine 79 (2012) 514–515
Available online at
www.sciencedirect.com
Images in rheumatology
Osteoporotic compression fracture revealing Hajdu-Cheney Syndrome Paul Ornetti a,b,∗ , Christian Tavernier a a b
Department of rheumatology, Dijon University Hospital, Dijon, France Inserm U1093, University of Burgundy, Dijon, France
Fig. 1. T2-weighted sagittal MRI: serial osteoporotic vertebral fracture and compression fracture of the T8 vertebral body.
A 55-year-old man with a history of chronic back pain presented with acute paraplegia at the T8 level, without any traumatic event. T2-weighted sagittal magnetic resonance (MR) imaging revealed multilevel biconcave vertebral fractures and posterior displacement of a fragment of the T8 vertebral body (Fig. 1) due to marked collapse, causing dorsal spinal cord compression. The patient underwent emergency posterior decompressive
∗ Corresponding author. Department of Rheumatology, hôpital Général, 3, rue du Faubourg-Raines, 21000 Dijon, France, Tel.: +33 3 80 29 37 45; fax: +33 3 80 29 36 78. E-mail address: [email protected] (P. Ornetti).
Fig. 2. Acro-osteolysis of the fingers with mid-phalangeal band-like resorption of the terminal phalanges.
laminectomy, which led to progressive neurological recovery. The intra-operative vertebral biopsy ruled out metastatic involvement. Bone densitometry confirmed severe osteoporosis. The patient has features of Hajdu-Cheney syndrome [1], a rare autosomal dominant disorder characterized by severe osteoporosis, acro-osteolysis of the fingers with mid-phalangeal band-like resorption of the terminal phalanges (Fig. 2), distinctive craniofacial changes (dolichocephaly with bulging of the interparietal occipital squama and platybasia, open sutures, micrognathia) and proportionate short stature. In Hajdu-Cheney patients, despite the severe skeletal and neurological congenital malformation that can be detected by MR imaging of the spine (Arnold-Chiari malformation,
1297-319X/$ – see front matter © 2012 Société franc¸aise de rhumatologie. Published by Elsevier Masson SAS. All rights reserved. doi:10.1016/j.jbspin.2012.03.012
P. Ornetti, C. Tavernier / Joint Bone Spine 79 (2012) 514–515
syringomyelia, vertebral collapse), neurosurgical complications such as spinal cord compression are uncommon. Disclosure of interest The authors declare that they have no conflicts of interest concerning this article.
515
Reference [1] Maroteaux P, Lemerrer M. Syndrome d’Hadju-Cheney. In: Maladies osseuses de l’enfant. 4e ed. Paris: Flammarion Médecine; 2002, p 322.
Available online at
www.sciencedirect.com
Images in rheumatology
Osteoporotic compression fracture revealing Hajdu-Cheney Syndrome Paul Ornetti a,b,∗ , Christian Tavernier a a b
Department of rheumatology, Dijon University Hospital, Dijon, France Inserm U1093, University of Burgundy, Dijon, France
Fig. 1. T2-weighted sagittal MRI: serial osteoporotic vertebral fracture and compression fracture of the T8 vertebral body.
A 55-year-old man with a history of chronic back pain presented with acute paraplegia at the T8 level, without any traumatic event. T2-weighted sagittal magnetic resonance (MR) imaging revealed multilevel biconcave vertebral fractures and posterior displacement of a fragment of the T8 vertebral body (Fig. 1) due to marked collapse, causing dorsal spinal cord compression. The patient underwent emergency posterior decompressive
∗ Corresponding author. Department of Rheumatology, hôpital Général, 3, rue du Faubourg-Raines, 21000 Dijon, France, Tel.: +33 3 80 29 37 45; fax: +33 3 80 29 36 78. E-mail address: [email protected] (P. Ornetti).
Fig. 2. Acro-osteolysis of the fingers with mid-phalangeal band-like resorption of the terminal phalanges.
laminectomy, which led to progressive neurological recovery. The intra-operative vertebral biopsy ruled out metastatic involvement. Bone densitometry confirmed severe osteoporosis. The patient has features of Hajdu-Cheney syndrome [1], a rare autosomal dominant disorder characterized by severe osteoporosis, acro-osteolysis of the fingers with mid-phalangeal band-like resorption of the terminal phalanges (Fig. 2), distinctive craniofacial changes (dolichocephaly with bulging of the interparietal occipital squama and platybasia, open sutures, micrognathia) and proportionate short stature. In Hajdu-Cheney patients, despite the severe skeletal and neurological congenital malformation that can be detected by MR imaging of the spine (Arnold-Chiari malformation,
1297-319X/$ – see front matter © 2012 Société franc¸aise de rhumatologie. Published by Elsevier Masson SAS. All rights reserved. doi:10.1016/j.jbspin.2012.03.012
P. Ornetti, C. Tavernier / Joint Bone Spine 79 (2012) 514–515
syringomyelia, vertebral collapse), neurosurgical complications such as spinal cord compression are uncommon. Disclosure of interest The authors declare that they have no conflicts of interest concerning this article.
515
Reference [1] Maroteaux P, Lemerrer M. Syndrome d’Hadju-Cheney. In: Maladies osseuses de l’enfant. 4e ed. Paris: Flammarion Médecine; 2002, p 322.