Madelung's disease as a rare cause of obstructive sleep apnea

Abstract

Madelung's disease, or multiple symmetric lipomatosis, is a rare disease, characterized by accumulation of unencapsulated fat, generally located symmetrically around the neck and shoulders. Here, we present the case of a patient with diffuse lipomatosis accompanied by obstructive sleep apnea due to cervical involvement and facial deformity, which made it necessary to use nasal pillows for ventilation. The patient was hospitalized with a diagnosis of pneumonia and required noninvasive ventilation due to severe hypercapnia. A brief review of the literature was made, and we describe and discuss the investigation of this rare clinical case.

Lipomatosis of the orbits: possibly a form of Madelung's disease

“…Hertel exophthalmometry revealed proptosis of 23 mm bilaterally and marked periorbital soft-tissue fullness ( Figure 1 Eye Comment Madelung's disease is characterized by multiple nonencapsulated lipomas, which can enlarge significantly, resulting in dysponea and dysphagia. 2 The etiology of the disease remains unknown, but an abnormal lipogenesis induced by catecholamines has been observed and is often associated with liver dysfunction due to alcoholism. 3 Bilateral late-onset lipomatosis of the orbits also occurs in Graves' disease and has also been reported following prolonged administration of oral corticosteroids.…”

Multiple Symmetric Lipomatosis: A Diagnostic Dilemma

“…The disease was first described by Brodie in 1846 and later by Madelung and Launois in 1888 and 1898, respectively [3]. It is a slow progressing disease with unknown etiology.…”

Madelung Disease: Multiple Symmetric Lipomatosis

“…A sleep study was warranted because his oropharyngeal compromise was the cause of his sleep apnea, and sleep apnea is a known complication of MSL. 4,5 The presence of apnea could have contributed to his pulmonary hypertension.…”