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Войти в исследования Connecticut medicine · 2012
Camurati-Engelmann disease--a rare cause of bone pain.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Mundra Vishal, Taxel Pamela
Аннотация
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.
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.