Camurati -Engelman disease- a rare cause on bone scintigraphy: a case report and review of the literature
DOI:
https://doi.org/10.5457/ams.v55i1.810Keywords:
Camurati-Engelman disease, diaphyseal dysplasia, bone scintigraphy,Abstract
Camurati-Engelmann disease (CED) or progressive diaphyseal dysplasia is a rare autosomal dominant hereditary disorder, characterized by simmetrical progressive sclerosis of long bones cortical diaphysis. This disease is caused by mutation in the TGF?1 gene [1,2]. Considering the rarity of this disorder (to date around 300 affected individuals have been reported) [3], we would like to share Bosnian and Herzegovina patient diagnosis with CED. To the best of our knowledge, no case of CED has been reported in Bosnia and Herzegovina till date. We evaluated a 10-year-old girl had history pain in the left leg and difficult movement since age of four. During the time, neuromuscular disease was suspected, but not confirmed. Symmetrical enhanced uptake seen on technetium hydroxymethylene diphosphonate (99m Tc-HDP) bone scintigraphy at diaphyses of longitudinal bones and cortical thickening of long bones seen at radiograms. Those finding pointed to Camurati-Engelmann diagnosed misdiagnosed for the long time.
References
Camurati-Engelman disease. Genetic Home Reference.Novembar, 2017;
https:// ghr.nlm.nih.gov/condition/camurati-engelmann-disease.
Camurati-Engelmann disease.Orphanet. November 2013;http://www.orpha.net/consor/cgi-
bin/OC_Exp.php?Lng=GB&Expert=1328
De Bonilla Damia A, Garcia Gomez FJ. Camurati-Engelmann disease. Reumatoloc Clin. 2017;13 (1):48-49.
Cockayne EA, Proc Roy Soc Med, 1920;13:32- 136.
Camurati M, Chir Organi Mov,1922; 6:662-665.
E. Engelmann, Geb Roentgenstrn Nuk, 1929; 39:1101-1106.
Mundra V, Taxel P, Conn Med, 2012; 7:33-37
Bartuseviciene A, Samuilis A, Skucas J, Skeletal radiol.2009; 38:1037-43.Pubmed
Harisankar CN, Kamleshwaran KK, Bhattacharya A, Singh B, Bhadada S, Mittal BR, Indian J Nuc Med 2011; 26:44-45.
Janssens K, Gershoni-Ba-Ruch R, Van Hul E, Brik R, Guanabens N, Migone N, Verbruggen LA, Ralston SH, Bonduelle M, Van Maldergem L, Vanhoenacker F, Van Hull W, J Med Genet 2000; 37:245-249.
Shi M, Zhu J, Wang R, Chen X, Mi L,Walz T, Springer TA, nature 2011; 15:343-349.
B. Dannenmaier, B. Weber. Observations on the Camurati-Engelmann syndrome. Rofo, 1989; 151:175-178
E.Cockayne. Case for diagnosis. Proc R Soc Med, 1920; 13:132-136.
Engelmann G. Ein fall von osteopathia hyperostotica (sclerotisans) multiplex infantilis. Forsch Geb Rontgenstrahlen Nuklearmedizin 1929; 39:1101-1106.
Shuke N, Takashio T, Yamamoto W, et.al. Bone scintigraphy in a patient with progressive diaphyseal dyspasia. Clin Nuck Med 1997;22:791-792.
Clybouw C, Desmyttere S, Bonduelle M, et.al. Camurati-Engelmann disease: contribution of bone scinitgraphy to genetic counseling. Genet Couns 1994;5:195-198.
Inaoka T, Shuke N, satoJ, et.al.scintigraphic evaluation of pamidronate and corticosteroid therapy in a patient with progressive diaphyseal dyspasia (Camurati-Engelmann disease). Clin Nucl med 2001;26:680-682.
Downloads
Published
Issue
Section
License
Copyright transfer
The listed authors warrant that they are the authors and sole owners of the submitted manuscript. The authors also warrant that the work is original; that it has not been previously published in print or electronic format and is not under consideration by another publisher or electronic medium; that it has not been previously transferred, assigned, or otherwise encumbered; and that the authors have full power to grant such rights. With respect to the results of this work, the manuscript of this or substantially similar content will not be submitted to any other journal until the review process in the Acta Medica Salinianana has been officially completed (acceptance or rejection of the manuscript). The paper will not be withdrawn from the review process by the Acta Medica Saliniana Editorial Board until the review process is completed. The authors will comply with the requests of the Acta Medica Saliniana Editors and reviewers to improve the paper for publication. The eventual disagreements will be submitted in a written form; the authors are aware that the disagreement(s) with the Acta Medica Saliniana requests may result in the rejection of the manuscript. The authors hereby grant to the Acta Medica Saliniana the right to edit, revise, abridge, and condense the manuscript. If the manuscript is accepted for publication in the Acta Medica Saliniana, the authors hereby transfer the copyright of the paper to the Acta Medica Saliniana. The authors permit the Acta Medica Saliniana to allow third parties to copy any part of the journal without asking for permission, provided that the reference to the source is given. For papers with more than one author: All other co-authors agree to allow the corresponding author to make decisions regarding prepublication release of the information in the paper to the media, federal agencies, or both.
