Camurati-Engelmann disease with good treatment response to Losartan
| Autor: | Mansoor Cherumkuzhiyil Abdulla |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Pediatrics medicine.medical_specialty Bone disease losartan business.industry Case Report 030209 endocrinology & metabolism Camurati–Engelmann disease Disease Camurati-Engelmann disease medicine.disease 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Losartan Dysplasia Craniotubular Hyperostosis medicine Missense mutation Radiology Nuclear Medicine and imaging Differential diagnosis business steroids medicine.drug |
| Zdroj: | Indian Journal of Nuclear Medicine : IJNM : The Official Journal of the Society of Nuclear Medicine, India |
| ISSN: | 0972-3919 |
| DOI: | 10.4103/ijnm.ijnm_44_19 |
| Popis: | Camurati–Engelmann disease (CED) or progressive diaphyseal dysplasia is a rare autosomal dominant inherited condition which belongs to the group of craniotubular hyperostosis. A 24-year-old man presented with insidious onset, progressive pain over both legs, and forearms for 3 years. He was born as the second child of a nonconsanguineous union by vaginal delivery at term without any complications. The clinical, radiological, and histopathological features were suggestive of CED. Transforming growth factor-β1 sequence analysis revealed a missense mutation (c.652C>T; p. Arg218Cys) confirming the diagnosis. He had a good response to treatment with Losartan. CED should be considered in the differential diagnosis of patients presenting with nonspecific limb pains and radiological features of skeletal dysplasia. Early recognition and diagnosis play a crucial role in management. This case discuss regarding the potential benefits of the drug losartan in the management of a rare bone disease for which the evidence from previous literature is scarce. |
| Databáze: | OpenAIRE |
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