Hello, I'm a resident physician at the Shirley Ryan Ability Lab, formerly known as the Rehabilitation Court of a patient with balance issues who had a history of a rare condition called metric lipomatosis. Madelung's disease is a metabolic condition characterized by the development of unencapsulated lipomas. These are distributed around the neck, shoulder, upper arms, and trunk in a symmetric pattern. The typical appearance is so distinct that the condition can be diagnosed on site by those familiar with the disease. An example of the typical location and appearance of one of those lipomas can be seen in the picture on the right-hand side of the poster. Madelung's disease is quite rare. Between 1898 and the end of 2002, about 300 cases were described in the literature. The highest incidence is reported in the Italian population, which is estimated to be at perhaps 1 in 25,000. It is most often seen among middle-aged men. The cause is unknown, with multiple theories regarding its pathogenesis, including mitochondrial dysfunction and abnormal fat metabolism. There is a strong association with alcohol use as well as liver dysfunction. One case report notes development of Madelung's disease following a liver transplant. Of relevance to our case, Madelung's disease is often associated with poor balance. The proximal cause of poor balance can be due to peripheral neuropathies, which can be present in up to 80% of cases, or from an elevated center of gravity related to fat redistribution. Treatment options are limited. Interestingly, despite strong association with development of the disease, abstinence from alcohol does not change the progression of the disease. Sometimes surgical resection of the lipomas is performed for aesthetic reasons, or if the mask has caused respiratory compromise. The recurrence of the lipomas is quite common. Let's proceed to our case now. We saw a 64-year-old female with a history of a liver transplant and Madelung's disease presented to the outpatient general physiatry clinic with a chief complaint of poor balance. She had been diagnosed with Madelung's 20 years prior. Interestingly, she denied any significant history of alcohol use. About six years after the diagnosis of Madelung's disease, she developed cirrhosis and underwent an orthotopic liver transplant. She noted that since that time, she had further redistribution of fat from her chest and hips to her upper back and trunk. She noted that over the last three years, she had worsening balance, especially when changing directions or navigating uneven surfaces. She had had a number of falls in such situations. She endorsed having lower extremity electrodiagnostic studies, which were normal. On exam, her appearance was notable for soft tissue atrophy of the hip girdle and breasts in the presence of multiple large soft tissue masses on the posterior trunk and upper back. Her strength was overall intact except for mild hip abduction weakness. Her sensation to light touch and proprioception were intact. She was steady when seated but lost her balance when reaching outside her base of support. When standing, she tended to lean forward and walked with a wide base. She was unable to tandem walk due to loss of balance. She was referred to outpatient physical therapy to work on gait mechanics, balance, and transitional movements, as it was felt that her loss of balance was most likely due to an elevated center of gravity. The table in the upper right summarizes her progress. Over a two-week period, she improved her single leg and tandem stance time. She made some improvement in the Berg Balance Test, though her dynamic gait index was overall unchanged. The VR-12 is a health-related quality-of-life self-report tool. She made some improvement on this in the physical component, though the mental aspect actually declined somewhat. In conclusion, Madelung's disease is a rare disorder of fat distribution that can cause balance issues by changing a person's center of gravity. Body morphology should be assessed when evaluating a patient presenting with poor balance. Physical therapy may be an effective approach for improving functional balance in such patients. I would like to thank Dr. James Sliwa, who assisted with the writing of this case report. Thank you.

Madelung's disease

lipomas

metabolic condition

liver transplant

balance problems