- 期刊
骨質石化病合併慢性鼻竇炎
Osteopetrosis with Chronic Paranasal Sinusitis
摘要
骨質石化症為一罕見性遺傳性疾病，又稱大理石樣骨(marble bones)、石膏樣骨(chalk bones)、或是Albers-schönberg's disease。這是因為蝕骨細胞(osteocleast)異常，造成重塑(remodeling)機制有缺陷、骨質增加，使骨頭硬而脆，進而導致神經壓迫性病變、易骨折、造血功能異常及易感染等症狀。臨床分類主要可分為體隱性遺傳之惡性嬰兒型和體顯性遺傳之良性成人型兩型。其診斷主要建立於放射線檢查可見全身廣泛性之骨硬化(osteosclerosis)。耳鼻喉方面常見的症狀有鼻塞、骨髓炎、阻塞性睡眠呼吸中止、顏面瘻管、以及鼻竇炎症狀。本報告為一左上頜竇骨髓炎及鼻竇炎、併多次骨折、智力及反應遲鈍之30歲女性，15年間即因上頜瘻管及持續復發性肉芽腫接受過5次擴創術，放射線檢查顯示其為骨質石化(osteopetrosis)。此疾全身性骨異常，亦會造成患者之鼻竇炎，但僅10%併有骨髓炎，而其波及上頜骨者，文獻上更罕見，特此報告。
並列摘要
Osteopetrosis, also called as marble bone disease, is a hereditary disease. It is caused by a failure of the osteoclast to resorb bone and an increased amount of bone, which results in compressive neuropathies, easily fractures, hematological anomalies, and infections. There are two major clinical patterns: malignant infantile Osteopetrosis (MIOP) and benign adult Osteopetrosis. The diagnosis of Osteopetrosis depends on the radiological finding of diffuse osteosclerosis. The common otolaryngological symptoms include nasal obstruction, osteomyelitis, obstructive sleep apnea (OSA), facial fistula, and rhinosinusitis. About 10% of the patients with Osteopetrosis may develop osteomyelitis, and very few papers report its involvement of maxilla. We report a case of a 30-year-old female of benign adult Osteopetrosis complicated with left maxillary osteomyelitis and chronic paranasal sinusitis. She had received repeated surgical debridements for more than 5 times due to the maxillary fistula and recurrent granulation tissue within 15 years. Without severe systemic complications, prolonged antibiotic therapy and surgical debridements are needed for treatment of nasosinal disease.