First case of surgical treatment of Farber's disease.
First case of surgical treatment of Farber's disease.
复制标题
第一例手术治疗法伯氏病。
DOI：
10.1097/00000637-199710000-00011
复制
发表时间：
1997
影响因子：
1.5
通讯作者：
I. Hayashi
中科院分区：
文献类型：
--
作者：
G. Haraoka;M. Muraoka;N. Yoshioka;S. Wakami;I. Hayashi
法伯病（法伯脂肪肉芽肿病）是一种常染色体隐性遗传病，由法伯于1952年首次报道。我们报告一例法伯病在一个12岁的女性。她的弟弟受到法伯氏病的影响，并在2岁时死亡。当她第一次出现时，我们的病人的主要临床特征是尖锐的声音;皮下结节;全身关节挛缩;口腔、咽和上下眼睑的肉芽肿。系列X光片显示全身关节变形。由于口腔中的肉芽肿，她几乎不能进食，因此营养不良。我们在全身麻醉下进行了肉芽切除术，她的进食困难和上呼吸道阻塞得到了改善。法伯氏病没有特定的治疗方法，大多数报告的患者在2岁时死亡。这是第一个报告的病人与法伯氏病谁已手术治疗。
Farber's disease (Farber's lipogranulomatosis), which is inherited as an autosomal recessive trait, was first reported by Farber in 1952. We report a case of Farber's disease in a 12-year-old female. Her younger brother was affected with Farber's disease and died of it at 2 years of age. When she first presented, our patient's main clinical features were a shrill voice; subcutaneous nodules; contracture of the joints throughout the body; and granulomas of the oral cavity, the pharynx, and the upper and lower eyelids. Serial radiographs disclosed deformation of the joints throughout the body. Due to the granulomas in her oral cavity, she could take little food orally and therefore was malnourished. We performed a granulectomy under general anesthesia, and her difficulty with feeding and upper airway obstruction improved. There is no specific treatment for Farber's disease, and most patients reported have died by 2 years of age. This is the first reported patient with Farber's disease who has been surgically treated.