Madelung's disease is a rare disorder characterised by the presence of multiple, symmetric, non-capsulated fat masses in the face, neck and other areas of upper extremities. In some cases, severe clinical complications such as upper airway compression can occur.
A 56-year-old man affected by Madelung's disease complained of snoring and severe daytime sleepiness. Polysomnography revealed severe obstructive sleep apnoea. An attempt to treat sleep apnoea by continuous positive airway pressure failed because of poor compliance. Functional expansion pharyngoplasty was carried out as an initial treatment. Marked improvement of neck movements and normalisation of somnographic parameters were observed at six months’ follow up.
Patients with Madelung's disease should be examined carefully for potential obstructive sleep apnoea. Although continuous positive airway pressure remains the treatment of choice, specific surgery can be used in those patients who cannot tolerate continuous positive airway pressure therapy.
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