Camurati-Engelmann disease--a rare cause of bone pain.

OBJECTIVE: Camurati-Engelmann disease or progressive diaphyseal dysplasia is a rare autosomal dominant disease characterized by cortical thickening of the long-bone diaphyses accompanied by waddling gait, muscular weakness, hearing loss and chronic skeletal pain. We describe two cases of Camurati-Engelmann disease with differing presentations and review of the literature on several therapeutic options. METHODS: We present two cases of Camurati-Engelmann disease which responded to different medical therapies. Various diagnostic tests including radiographs, bone scan and genetic analysis are also described. RESULTS: These cases responded differently to the treatment options and provide an insight into the variable response of the disease. CONCLUSION: Diagnosis of this disorder is based on the clinical history, family history, clinical examination and imaging results. Recently genetic testing has become available for TGF-beta1 mutation Several therapeutic agents including biphosphonates, NSAIDs, prednisone and losartan have been described as therapeutic options with mixed results, as described in our cases.

A rare case of rectus abdominis metastasis of lung adenocarcinoma.

BACKGROUND: Lung cancer accounts for more deaths than any other cancer in the country for both men and women.. Here we describe a case of rectus abdominis muscle, small bowel and mesenteric metastasis with poorly differentiated lung adenocarcinoma at the time of diagnosis. CASE REPORT: This is a case of 51 year old male patient who came with complains of severe abdominal pain for 3 days. He had a workup done for hemoptysis (over 2 months) including a CT chest which showed a 3.1×2.7cm cavitary lesion but the following bronchoscopy for malignancy was negative. He had a 30 pack year smoking history and had quit 10 years back. CT abdomen showed dense lobular mesenteric mass likely representing hemorrhagic mass seen in the right aspect of the mesentery. A second lesion was seen at inferior lateral aspect of the right rectus muscle which likely represents hemorrhagic lesion with hemoperitonuem. Pathology result came back as most consistent with metastatic poorly differentiated pulmonary adenocarcinoma. The patient is undergoing radiation treatment at present. CONCLUSIONS: There are very few case reports of lung cancer presenting with small bowel obstruction or perforation as the initial presentation. Skeletal muscle metastasis although rare, has been described to forearm, gluteal and psoas muscle. Our case presented as a hemorrhage resulting in overlying bruise which is not described before. Treatment options for such cases are not clear but as the patients usually have advanced disease at the time of diagnosis. Multimodality treatment options including surgical excision, chemotherapy and radiotherapy have been tried with mixed results.

Delayed chylous pericardial effusion after aortic valve replacement.

Chylopericardium after cardiac surgery is rare, and there are few reports of its occurrence after aortic valve surgery. Chylous pericardial effusion 4 months after aortic valve replacement for endocarditis is highly unusual.Herein, we report the case of a 54-year-old man who had undergone bioprosthetic aortic valve replacement because of endocarditis and valvular dysfunction. Two months later, he underwent pericardiocentesis twice because of large pericardial effusions consisting of pinkish white fluid with predominant lymphocytes. Four months after valve replacement, he presented with recurrent effusion consistent with early tamponade, and a pericardial window was created. At surgery, 1,500 cc of milky white fluid was recovered, and the diagnosis of chylopericardium was made. Postoperative high-volume drainage prompted thoracic duct ligation, which was curative.