Madelung's Disease as Unusual Cause of Asthenia

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Introduction

Madelung's disease also known as Launois-Bensaude syndrome, Multiple Symmetric Lipomatosis (MSL), cephalothoracic lipodystrophy, and benign symmetric lipomatosis - is a condition characterized by subcutaneous and deep non-encapsulated symmetric lipomas, mostly accompanied by polyneuropathy and metabolic disorders. The first description of the disease was made by Benjamin Brodie in 1846. Otto Wilhelm Madelung describes in 1888 the classic 'horse collar' pattern secondary to the head and neck distribution of the lipomas. Launois and Bensaude complete their description of this syndrome in 1898, giving it the name of multiple symmetric adenolipomatosis.

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Case Report

A 45 year-old man was admitted to our hospital due to a 3- month evolution medical condition characterized by asthenia and lack of energy. A daily alcohol intake of 192 gr per day has to be mentioned as a significant background.

Physical examination revealed pale conjuctivas and jaundiced sclera. Painless symmetric soft tumors were verified in the cervical, thoracic, abdominal, inguinal, and upper limbs areas (Figure 1). The muscular bulk was hypotrophic and tendon reflexes were normal.

Lab tests showed hematocrit 7%; mean corpuscular volume 115 fL; hemoglobin 2 g/dl; transferrin 392 µg/dl; hemoglobin saturation 21%; serum iron 81 µg/dl; corrected reticulocyte count 6.7%; platelets 22,000 mm3; GOT 151 UI/l; GPT 151 UI/l; GGT 151 UI/l; total bilirubin 4.5 mg/dl; lactic dehydrogenase 2300 UI/l; calcemia 7.9 mg/dl; phosphatemia 1.9 mg/dl; magnesemia 2 mg/dl; Prothrombin Time (PT) 18 seconds (reference: 12 seconds); Activated Partial Thromboplastin Time (APTT) 42 seconds (reference: 30 seconds); uric acid 9 mgdl; creatine phosphokinase 45 UI/l; aldolase 15 UI/l; total cholesterol 81 mg/dl; HDL cholesterol 16mg/dl; triglycerides 150 mg/dl; TSH of 1.83 µUI/ml; and the serology for HIV, HBV, and HCV was negative

The neck ultrasound scan revealed a significant soft tissue thickening and the CT scan of neck and thorax showed a marked increase of subcutaneous cellular tissue in the neck, and growth of the pericardial fat (Figure 2).

A biopsy of neck soft tissue was compatible with adipose tissue of normal characteristic. The electromyography (EMG) reveals a miopathic pattern͘

The medical condition of the patient was interpreted as characteristic anemia in the context of Madelung's disease.

Patient was followed up over two years four times every year. In each consultation he was assessed with clinical examination and analytical variables commonly required. Medical control showed no changes of his illness. patient was a homeless and after two years of follow up he didn´t attended at hospital anymore.