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

Sir,

Madelung's disease is a systemic disorder, which is typically characterized by symmetrical deposits of adipose tissue in the neck and upper back. In 1888, Madelung collected a series of cases outlining the macroscopic structure and clinical features of this disease. It is more common in males and associated with high alcohol consumption.¹ In this report, we present the clinical and radiological manifestations of Madelung's disease in the orbits, which to our knowledge has not been described before.

Case report

A 49-year-old Russian male was referred to the orbital clinic with prominent eyes. He had no previous ocular history. Three months before this he was diagnosed with Madelung's disease when he presented with neck swelling secondary to fatty infiltration. He underwent bilateral neck dissections with histology revealing well-differentiated adipose tissue. He denied excessive alcohol consumption although his gamma-glutamyl transpeptidase was raised at 202 (normal range 2–50).

On examination, his visual acuity was 6/6 with normal colour vision on Ishihara test plates for both eyes. Hertel exophthalmometry revealed proptosis of 23 mm bilaterally and marked periorbital soft-tissue fullness (Figure 1). He had full range of eye movements and his remaining eye examination was normal. His thyroid function tests were normal. A computerized tomography scan of the orbits demonstrated symmetrical orbital fat deposition with straightening of the optic nerves (Figure 2). In view of the worsening nature of the disease and straightening of the optic nerves indicative of risk of compromise, he underwent bilateral medial orbital wall decompression and fat excision. Post operatively, he achieved a 2 mm reduction in proptosis bilaterally. Histology of excised fat demonstrated mature adipose tissue consistent with Madelung's disease.

Figure 1.

(a) Photograph of patient's eyes in the primary position, demonstrating bilateral proptosis and periorbital fullness secondary to adipose deposition. (b) Photograph of patient's neck with pathological fat deposition.

Figure 2.

Axial computer tomography scan of the brain and orbits, demonstrating symmetrical straightening of the optic nerves secondary to orbital fat deposition and proptosis.

Comment

Madelung's disease is characterized by multiple non-encapsulated 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.⁴ Interestingly, the phenotype of orbital fibroblasts is distinct from pre-adipocyte fibroblasts elsewhere, and it is this characteristic that is thought to contribute to the selective involvement of the orbit in Graves' disease; yet, in Madelung's disease the orbit also appears to be a feature.⁵ Treatment is surgical removal of excess adipose tissue where it is affecting the aerodigestive tract, causing psychological distress and may now be extended to include compromising optic nerve function.

The authors declare no conflict of interest.