Madelung’s disease is a rare condition characterized by diffuse, multiple, symmetric, non-encapsulated, fatty accumulation predominantly in neck and upper trunk which can predispose to obstructive sleep apnea (OSA). This case report involves a 51-year-old man affected by Madelung’s disease who complained of difficulty breathing and inability to sleep in supine position. An overnight pulse oximetry was performed, and the result was suggestive of moderate to severe OSA. After APAP titration, the patient was prescribed CPAP at the pressure setting of 13 cm of water. Alcohol cessation was also advised. At six-month-follow up visit, marked improvement in neck cosmetic appearance and alleviation of sleep disturbance related symptoms were observed. Polysomnography finally confirmed the diagnosis of severe OSA. This case illustrates that the patient with Madelung’s disease may present with clinical presentation of OSA, which should be promptly diagnosed. Continuous positive airway pressure remains the treatment of choice.
© 2020 American Academy of Sleep Medicine.