Multiple symmetric lipomatosis (MSL) of neck in a child (Madelung's disease): report of a rare presentation

Abstract

A case of multiple symmetric lipomatosis (MSL) of neck, also known as Madelung's disease or Launois-Bensaude syndrome, is reported in an 8-year-old girl who presented with bilateral swellings in the neck. MSL is characterized by large subcutaneous fat masses distributed around the neck, shoulders and other parts of the trunk, often associated with abnormalities of the nervous system. This is commonly seen in middle-aged men with a history of alcohol abuse. Metabolic disturbances and malignant tumours have also been associated with this disorder. MSL is rare in children and there was only one prior report in the literature describing MSL that affected two children. With an initial clinical suspicion of bilateral cystic hygroma, imaging was sought. CT demonstrated multiple compartmentalized, unencapsulated fat-containing lesions on either side of the neck extending into the mediastinum. This radiographic appearance was strongly suggestive of lipomatous tissue within the neck and eventually confirmed by histopathology. The recognition of this disease is important as, in addition to cosmetic abnormality, it can compress the important neurovascular structures. These fatty deposits were later surgically excised.