RESUMO
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-ß1 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.
RESUMO
A 27-year-old female patient presented with headache, vomiting, and visual disturbances who was evaluated and detected to have a direct carotid cavernous fistula (CCF). Secondary causes were ruled out, and she was treated with coil occlusion and glue injection. A month after almost complete clinical recovery, she developed deep vein thrombosis of left thigh. Subsequent work-up revealed antithrombin III (ATIII) deficiency in her. To the best of our knowledge, this is the first reported case of ATIII deficiency associated with CCF. This case shows the importance of working up for a primary etiology if any, to prevent further complications after surgery.
