a sight diagnosis
Anyone who has seen it will recognize it immediately while those who haven't probably won't.
The case
A professional woman in her late 50's came to me for a third opinion regarding a peculiar, progressive and disfiguring deposition of fat around her neck and over her shoulders. Her hips and legs remained normal in appearance as did her face but, gradually over a period of two years, she began to look like she was wearing shoulder pads.
She also complained of weakness and on exam she had symmetrical weakness of hip and shoulder girdle muscles with normal peripheral strength.
She had a selective loss of vibratory sensation in her feet with preserved ankle reflexes; and difficulty with tandem gait.
She gave a history of years "1-2 litres of wine per day." She had enlarged red cells with an MCV (mean corpuscular volume) of 106; mildly elevated liver enzymes and a liver ultrasound showing hyperechoicity consistent with fatty infiltration.
An EMG showed mild myopathic findings in the deltoids and the feeling of the needles suggested the hypertrophic tissue was fat, not muscle.
A biopsy that probably included some sternocleidomastoid showed subsarcolemmal masses consistent with alcoholic myopathy.
MADELUNG'S DISEASE
According to Philip W. Allen in Tumors and Proliferations of Adipose Tissue, Masson Publishing, 1981:
Madelung's disease "...is almost exclusively a disease of middle aged alcoholic males, although females and non-alcoholics are sometimes said to be affected. A typical patient is likely to be a male aged about 50 years of age who complains of a socially embarassing or grotesque enlargement in the neck and chin...the appearance of the masses is preceded by 10 or more years of heavy drinking...generalized obesity is not a feature."
The differential includes obesity, steroid adiposity, lipomas and liposarcoma.
Allen states that the only serious danger is possible involvement of the larynx causing respiratory obstruction. The prognosis "is probably more dpendent on the associated alcoholism..."
A SIGHT DIAGNOSIS
This woman has at least five complications of excessive alcohol: liver enlargement, proximal muscle weakness, peripheral neuropathy, cerebellar ataxia and Madelung's. Bad luck.
In this case a picture was worth a thousand words. The patient, terribly upset at what was happening to her body, went through her local HMO and then traveled to a prestigious medical center on the east coast and no one recognized it. The lack of a diagnosis caused her to drink more.
She came to me and I didn't recognize it either but I had a hunch someone would. I sent her picture to Stephen Dearmond, M.D., the pathologist at the University of California in San Francisco who had taken a considerable interest in the case. He showed it to a colleague who recognized Madelung's Disease: "In medical school we called it the Michelin Boy disease..."
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