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Case Report

Mild Camurati‑Engelamann disease presenting with exophthalmos as the first and only manifestation: A case report

  • Authors:
    • Ruizhi Jiajue
    • Bo Wu
    • Yan Jiang
    • Ou Wang
    • Mei Li
    • Xiaoping Xing
    • Weibo Xia
  • View Affiliations / Copyright

    Affiliations: Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, P.R. China
  • Pages: 2710-2716
    |
    Published online on: July 27, 2016
       https://doi.org/10.3892/mmr.2016.5548
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Abstract

Camurati-Engelmann disease (CED; MIM 131300), or progressive diaphyseal dysplasia, is a rare autosomal dominant bone disease, which is caused by mutations in the transforming growth factor‑β1 (TGFβ1) gene on chromosome 19q13.1‑13.3. Extremely variable penetrance has been reported to be associated with CED, the most common features of which are limb pain, waddling gait and muscle weakness. The present study reported on a consanguineous Chinese family with one affected individual that initially presented with exophthalmos, which has not previously been reported as an initial manifestation of CED. The proband was a 22-year-old woman that presented with progressive proptosis. Except for increased serum levels of alkaline phosphatase and C‑terminal telopeptide of type I collagen, no other biochemical abnormalities were detected. Whole‑body radiological and bone scintigraphic investigations revealed that hyperostosis and sclerosis predominantly affected the cranial bones, including the skull base, and only mildly affected the long bones. A heterozygous mutation involving a G to A transition at the cDNA position +653 of TGFβ1 was detected in the patient only, but not in her family members, by automated DNA sequencing using an ABI DNA sequencer (Model 377). Based on the clinical, biochemical, radiological and genetic findings, a diagnosis of CED was confirmed. Considering the phenotypic variability associated with CED and the unique manifestations of the patient described in the present study, CED should be taken into account regarding the differential diagnosis of exophthalmos.
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Copy and paste a formatted citation
Spandidos Publications style
Jiajue R, Wu B, Jiang Y, Wang O, Li M, Xing X and Xia W: Mild Camurati‑Engelamann disease presenting with exophthalmos as the first and only manifestation: A case report. Mol Med Rep 14: 2710-2716, 2016.
APA
Jiajue, R., Wu, B., Jiang, Y., Wang, O., Li, M., Xing, X., & Xia, W. (2016). Mild Camurati‑Engelamann disease presenting with exophthalmos as the first and only manifestation: A case report. Molecular Medicine Reports, 14, 2710-2716. https://doi.org/10.3892/mmr.2016.5548
MLA
Jiajue, R., Wu, B., Jiang, Y., Wang, O., Li, M., Xing, X., Xia, W."Mild Camurati‑Engelamann disease presenting with exophthalmos as the first and only manifestation: A case report". Molecular Medicine Reports 14.3 (2016): 2710-2716.
Chicago
Jiajue, R., Wu, B., Jiang, Y., Wang, O., Li, M., Xing, X., Xia, W."Mild Camurati‑Engelamann disease presenting with exophthalmos as the first and only manifestation: A case report". Molecular Medicine Reports 14, no. 3 (2016): 2710-2716. https://doi.org/10.3892/mmr.2016.5548
Copy and paste a formatted citation
x
Spandidos Publications style
Jiajue R, Wu B, Jiang Y, Wang O, Li M, Xing X and Xia W: Mild Camurati‑Engelamann disease presenting with exophthalmos as the first and only manifestation: A case report. Mol Med Rep 14: 2710-2716, 2016.
APA
Jiajue, R., Wu, B., Jiang, Y., Wang, O., Li, M., Xing, X., & Xia, W. (2016). Mild Camurati‑Engelamann disease presenting with exophthalmos as the first and only manifestation: A case report. Molecular Medicine Reports, 14, 2710-2716. https://doi.org/10.3892/mmr.2016.5548
MLA
Jiajue, R., Wu, B., Jiang, Y., Wang, O., Li, M., Xing, X., Xia, W."Mild Camurati‑Engelamann disease presenting with exophthalmos as the first and only manifestation: A case report". Molecular Medicine Reports 14.3 (2016): 2710-2716.
Chicago
Jiajue, R., Wu, B., Jiang, Y., Wang, O., Li, M., Xing, X., Xia, W."Mild Camurati‑Engelamann disease presenting with exophthalmos as the first and only manifestation: A case report". Molecular Medicine Reports 14, no. 3 (2016): 2710-2716. https://doi.org/10.3892/mmr.2016.5548
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