A case of Madelung's disease presenting with obstructive sleep apnea

Madelung's disease is a rare condition characterized by diffuse, multiple, symmetric, nonencapsulated fatty accumulation predominantly in the neck and upper trunk, which can predispose to obstructive sleep apnea. This case report involves a 51-year-old man affected by Madelung's disease who complained of difficulty breathing and inability to sleep in a supine position. An overnight pulse oximetry was performed, and the result was suggestive of moderate to severe obstructive sleep apnea. After auto-titrating continuous positive airway pressure therapy, the patient was prescribed continuous positive airway pressure therapy at the pressure setting of 13 cm of water. Alcohol cessation was also advised. At the 6-month follow-up visit, a marked improvement in neck cosmetic appearance and alleviation of sleep disturbance-related symptoms were observed. Polysomnography finally confirmed the diagnosis of severe obstructive sleep apnea. This case illustrates that a patient with Madelung's disease may present with a clinical presentation of obstructive sleep apnea, which should be promptly diagnosed. Continuous positive airway pressure remains the treatment of choice.