FIRST CASE OF SURGICAL-TREATMENT OF FARBERS-DISEASE

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 younge r 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 feature s 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 deformat ion of the joints throughout the body. Due to the granulomas in her or al cavity, she could take little food orally and therefore was malnour ished, We performed a granulectomy under general anesthesia, and her d ifficulty with feeding and upper airway obstruction improved. There is no specific treatment for Farber's disease, and most patients reporte d have died by 2 years of age. This is the first reported patient with Farber's disease who has been surgically treated.