Madelung's disease in a non-alcoholic Ethiopian male patient mistaken for obesity: a case report.

BACKGROUND: Madelung's disease (MD) is a rare disorder of fat storage characterized by the presence of diffuse, symmetrical deposition of subcutaneous fat around the neck, shoulder, arm, trunk and thigh. Although its cause is not fully understood, this benign condition is commonly presented among adult males with Mediterranean origin and history of alcohol abuse. Patients often presents with compression of vital structures, cosmetic disfigurement and associated psychosocial problems and systemic comorbidities. It is often under-recognized by physicians, possibly due to obliviousness of the condition and often misdiagnosed as obesity. CASE PRESENTATION: We present a 65-year-old non-alcoholic black Ethiopian man, presented with a slowly growing body fat in his trunk and proximal limbs associated by multiple joint and back pain which got worse recently. He denied any history of chronic alcohol use. On examination, huge, bilateral, non-tender, soft, globular masses in his torso, shoulder, arm and thigh with bilateral breast enlargement. On investigation his biochemical profile was normal except hyperuricemia (10.6 mg/dl). Imaging of the cervical and lumbar vertebrae showed excess subcutaneous fat depositions with degenerative disc disease. Biopsy from the mass revealed non-encapsulated lipoma and he was diagnosed with type II MD. We treated his pain with supportive therapy and discharged in stable condition. The patient deferred surgical treatment. CONCLUSIONS: Madelung's disease is often reported among white adult males with chronic alcoholism. However, our case reported a black man without the typical risk factor which was misdiagnosed as obesity. Hence, clinicians should be aware of MD and need to consider it in their differential diagnosis when encountered with a patient having progressive centripetal fat deposition with or without a history of alcoholism and systemic comorbidities. As early detection of this disorder helps to avoid diagnostic delays and prevent complications through timely interventions which will in turn improves patient quality of life.

A case of Madelung's disease presenting with obstructive sleep apnea.

Madelung's disease is a rare condition characterized by diffuse, multiple, symmetric, nonencapsulated fatty accumulation predominantly in the neck and upper trunk, which can predispose to obstructive sleep apnea. This case report involves a 51-year-old man affected by Madelung's disease who complained of difficulty breathing and inability to sleep in a supine position. An overnight pulse oximetry was performed, and the result was suggestive of moderate to severe obstructive sleep apnea. After auto-titrating continuous positive airway pressure therapy, the patient was prescribed continuous positive airway pressure therapy at the pressure setting of 13 cm of water. Alcohol cessation was also advised. At the 6-month follow-up visit, a marked improvement in neck cosmetic appearance and alleviation of sleep disturbance-related symptoms were observed. Polysomnography finally confirmed the diagnosis of severe obstructive sleep apnea. This case illustrates that a patient with Madelung's disease may present with a clinical presentation of obstructive sleep apnea, which should be promptly diagnosed. Continuous positive airway pressure remains the treatment of choice.

Self-initiated lifestyle interventions lead to potential insight into an effective, alternative, non-surgical therapy for mitochondrial disease associated multiple symmetric lipomatosis.

BACKGROUND: A 56-year-old female, diagnosed as a carrier of the mitochondrial DNA mutation (MTTK c.8344A > G) associated with the MERRF (myoclonic epilepsy with ragged red fibers) syndrome, presented with a relatively uncommon but well-known phenotypic manifestation: severe multiple symmetric lipomatosis (MSL). After surgical resection of three kilograms of upper mid-back lipomatous tissue, the patient experienced a significant decline in her functional capacity and quality of life, which ultimately resulted in her placement on long-term disability. METHODS: Dissatisfied with the available treatment options centered on additional resection surgeries, given the high probability of lipoma regrowth, the patient independently researched and applied alternative therapies that centred on a carbohydrate-restricted diet and a supervised exercise program. RESULTS: The cumulative effect of her lifestyle interventions resulted in the reversal of her MSL and her previously low quality of life. She met all her personal goals by the one-year mark, including reduced size of the residual post-surgical lipomas, markedly enhanced exercise tolerance, and return to work. She continues to maintain her interventions and to experience positive outcomes at the two-year mark. INTERPRETATION: This case report documents the timing and nature of lifestyle interventions in relation to the reversal in growth pattern of her previously expanding and debilitating lipomas. The profound nature of the apparent benefit on lipoma growth demonstrates the intervention's potential as a new feasible non-surgical therapy for mitochondrial-disease-associated MSL, and justifies its systematic study. We also describe how this case has inspired the care team to re-examine its approach to involved patients.

Relato de caso: doença de Madelung / Case report: Madelung's disease

A síndrome de Madelung ou também conhecida por lipomatose simétrica múltipla (LSM) é uma lipodistrofia benigna rara que se caracteriza por múltiplas massas adiposas não encapsuladas. Ainda de etiologia desconhecida, existe a suspeita de uma possível herança autossômica dominante. Está fortemente associada ao abuso de álcool (60-90% dos casos). Apresenta curso clínico variável, de crescimento rápido com posterior estabilização ou progressão lenta. Pode ser assintomática ou causar sintomas de compressão de estruturas mediastinais e do trato aerodigestivo. O tratamento de escolha é cirúrgico (AU)

Madelung syndrome, also known as multiple symmetric lipomatosis (MSL), is a rare benign lipodystrophy that is characterized by multiple non-encapsulated adipose masses. Although of unknown etiology, there is a suspected autosomal dominant inheritance. It is strongly associated with alcohol abuse (60-90% of cases). It presents a variable clinical course, of fast growth with later stabilization or slow progression. It may be asymptomatic or cause symptoms of compression of mediastinal structures and aerodigestive tract. The treatment of choice is surgical (AU)

Syndromic lipomatosis of the head and neck: a review of the literature.

INTRODUCTION: Patients with syndromic causes of lipomatosis of the head and neck, although rare, often present late in the course of the disease in a myriad of ways, including concomitant airway obstruction, severe functional limitations, and/or significant cosmetic defects. The goal of this report was to review the literature and present a concise overview of the major syndromes causing lipomatosis of the head and neck. METHODS: A literature search was performed to gather information on syndromic lipomatosis of the head and neck region. PubMed was searched for the following conditions: Familial multiple lipomatosis (FML), multiple symmetrical lipomatosis (MSL), congenital infiltrating lipomatosis of the face (CIL-F), and Nasopalpebral lipoma-coloboma syndrome (NLCS). Data gathered included results of surgical cases of the head and neck region. RESULTS: A total of 48 reports comprising 172 cases of syndromic lipomatosis of the head and neck region were deemed eligible for review. Eighty-five percent of patients were male with an average age of 35 years. Seventy-four percent of cases appeared in the neck region, whereas 23 % presented in the face and scalp. 89 % of cases were treated with surgical excision, with 11 % of cases treated with liposuction. The most common complications were hematoma and seroma in MSL, recurrence in FML, neuropraxia in CIL-F, and mild telecanthus in NLCS. CONCLUSIONS: Syndromic causes of lipomatosis are generally benign in nature but difficult to control long term. Because these conditions include frequent recurrence and subsequent difficulty in clearing the disease, the authors advocate early and aggressive surgical excision of syndromic lipomatosis. NO LEVEL ASSIGNED: This journal requires that authors assign a level of evidence to each submission to which Evidence-Based Medicine rankings are applicable. This excludes Review Articles, Book Reviews, and manuscripts that concern Basic Science, Animal Studies, Cadaver Studies, and Experimental Studies. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

A middle-aged man with increasing body fat.

A 51-year-old man was referred for evaluation of gradual increase in body fat over bilateral arms, chest and abdomen for 6 months. He was a non-smoker and he drank at least four bottles of beer daily since the age of 18. There was no significant past medical history or any family history of obesity or endocrine diseases. Physical examination showed localized large bulk of fat over the neck, both arms and mammary regions, abdomen, and back (Figs and ). The lower limbs and buttock were relatively spared. There was telangiectasia over the face and chest wall, but no palmar erythema nor finger clubbing. The liver span was normal, and the spleen tip was palpated 2 cm below the costal margin. Examination of the cardiovascular, respiratory and neurological system was normal. [Figure: see text] [Figure: see text] Blood tests showed thrombocytopenia (platelet 140 × 10(9) L(-1) [normal: 170-380 × 10(9) L(-1) ]) and liver function derangement (bilirubin 27 µmol L(-1) , ALP 298 U L(-1) , ALT 127 U L(-1) , AST 165 U L(-1) , GGT 1353 U L(-1) , albumin 33 g L(-1) and globulin 42 g L(-1) ). His clotting profile and renal functions were normal. His hepatitis B surface antigen was positive, but his HBV DNA was <60 copies per mL. Fasting glucose was 5.0 mmol L(-1) . HbA1c was 5.6%. His lipid profile was satisfactory with total cholesterol of 2.9 mmol L(-1) , triglycerides 1.0 mmol L(-1) , HDL-C 1.37 mmol L(-1) and LDL-C 1.1 mmol L(-1) . Ultrasound of the abdomen showed normal-sized liver with coarsened liver parenchymal echogenicity. The spleen was enlarged to 14 cm. This middle-aged man suffered from multiple symmetric lipomatosis and alcoholic liver disease. Dual-energy X-ray showed 1746 gm (40.1%), 1498 gm (32.8%) and 8322 gm (26.8%) fat over the left arm, right arm and trunk, respectively. The legs were unaffected with 1703 gm (19.4%) and 1627 gm (17.7%) fat over the left and right sides, respectively. The patient was advised to stop drinking and he declined surgical treatment.

Madelung's disease associated with polyneuropathy and symptomatic hypokalemia.

Madelung's disease (multiple symmetric lipomatosis) is a rare disease characterized by abnormal diffuse lipomatosis in proximal upper limbs and neck. Previous reports have shown that this disease is associated with alcoholism, polyneuropathy, mitochondrial disease, and glucose intolerance. Here, we describe a 46-year-old man having Madelung's disease associated with polyneuropathy and symptomatic hypokalemia. He presented with insidious-onset weakness and numbness in lower limbs for 7 years and recent deterioration of symptoms. Proximal weakness improved with potassium supplement. Our observation may extend the phenotype of Madelung's disease to hypokalemic periodic paralysis.

The endocrine and metabolic evaluation of benign symmetrical lipomatosis: a case report and literature review.

OBJECTIVE: Benign symmetrical lipomatosis (BSL) is a rare disease characterized by the presence of multiple, symmetric and nonencapsulated fat masses. Alcoholism is observed in nearly 90% patients. However the etiology of this disease is still unclarified. BSL is very rare in Chinese people. Herein we described the endocrine and metabolic status of a patient with typical BSL. We also discussed the clinical manifestation, etiology, diagnosis and treatment for BSL. RESULTS: Hyperuricemia and abnormal liver enzyme levels were observed in this case. However insulin sensitivity and function of the thyroid, adrenal glands and pituitary were all normal. The insulin sensitivity was assessed by the hyperinsulinemic euglycemic clam. CONCLUSIONS: Although an association had been found between BSL and some endocrinological or metabolic disorders including abnormal glucose tolerance, excessive secretion of insulin, hyperuricemia, and so on, they were not specific for BSL. It is necessary to develop into the pathogenesis of BSL further.

Tratamiento de la vía aérea con airtaq® en un paciente con síndrome de Launois-Bensaude / No disponible

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A case repot of Madelung's disease in a 69 years old man.

Madelung's disease is an extremely rare disorder of unknown etiology. It is characterized by the huge, bilateral, fatty deposits in regions of the neck, shoulders and the upper extremities. A 69-old patient with developed symptoms of Madelung's disease with a 12-years history is described in this study. The patient was initially considered to have a goiter and chronic heart insufficiency, for which he has been treated for three years. Although the Madelung's disease can be diagnosed right after detailed clinical examination, this study pointed out possible diagnostic and therapeutic mistakes when a physician in a differentiation of symmetrical neck and shoulder swellings doesn't consider the possibility of diagnosing a Madelung's disease.

[Metabolical characteristics in patients with multiple symmetrical lipomatosis]. / Metabolische Besonderheiten bei Patienten mit Multipler Symmetrischer Lipomatose.

BACKGROUND AND OBJECTIVE: Multiple symmetrical lipomatosis (MSL) is a rare cause of obesity. As the cause is unknown the therapeutic options are unsatisfactory. This study was undertaken to elucidate whether there are singular metabolic and endocrine characteristics in such patients. PATIENTS AND METHODS: Data were collected from 15 patients with MSL who had been referred to our clinic during the last ten years. Various metabolic and endocrine parameters as well as bone density were measured. The possible presence of an obstructive sleep apnoea syndrome was also looked for. RESULTS: Five of the 15 patients fulfilled the International Diabetes Federation's criteria of a metabolic syndrome. The parathormone level was elevated in seven patients, but there were no other endocrine abnormalities. DISCUSSION: No endocrine abnormalities other than an elevation of parathormone (of no clinical significance) are associated with MSL. But the prevalence of the (cardio)metabolic syndrome is relatively high. Thus an elevated risk of cardiovascular disease in these patients is likely.

[Unspecified gain of weight?]. / Unklare Gewichtszunahme?

In the case of a 49 year old patient, a weight gain of 37 kg occurred during the first weeks of the year 2003, accompanied by a painless increase in the diameter of the upper arms and thighs. This process did spontaneously cease in the summer of 2003, but weight reduction could not be achieved. The diagnosis of multiple symmetrical lipomatosis, also known as Launois-Bensaude syndrome, the first authors to describe the condition in detail in 1898, could be established due to the unique appearance of the patient. Typical features of the disease are the accumulation of multiple lipomata in the shoulder girdle, upper arms, thorax and thighs, whereas the face, the forearms and the shanks are typically excluded. The etiology of the disease is obscure, dietetic intervention is futile, surgical approaches are liposuction or excision of the lipomata. Cessation of alcohol consumption may also be helpful, since the condition is typically associated with present or past alcohol abuse. The disease is usually reported to be rare, but there is reason enough to assume, that it is frequently misdiagnosed as simple truncal obesity.

[Multiple symmetric lipomatosis in the otolaryngology as diagnostic and therapeutic problem]. / Tlszczakowatosc uogólniona w otolaryngologii--jako problem diagnostyczny i terapeutyczny.

Multiple symmetric lipomatosis (MSL) is a systemic disease connected with a degeneration of the adipose tissue. Association of reduced glucose tolerance, hyperinsulinemia, hyperlipoproteinemia, hyperuricemia, macrocytic anemia and renal tubular acidosis, polyneuropathy have been described. Lipomatosis was initially described in 1846 by Brodie but the exact aetiopathogenesis is still unknown. Depending on the anatomical location of the lipomatosis we can divided MSL into two types. MATERIAL, METHODS AND THERAPY: We describe the findings in three patients with symmetric lipomatosis: two (n=2) with the first and one (n=1) with the second type of the disease. The patients were diagnosed and treated in the Department of the Otolaryngology during last of two years (2002 to 2004). Patients had executing following research: ultrasonography of the neck and abdominal cavity (n=2), radiological examination of the chest (n=3), computer tomography of the neck (n=1), thin-needle biopsy (n=3), histopathological examination (n=2) and laboratory investigations (n=3). Two patients received the pharmacological treatment (magnesium and the vitamin B6) and we observed marked regress of the disease. In the patient who at first did not agree for the treatment, came up to the heavy increase mass of tumors, especially on the neck. Liposuction and the pharmacological treatment were executed in this patient. He is still in the observation. RESULTS: In case of tumors of face and neck, we have to take into account degenerative processes of the adipose tissue. Our observations indicate the efficiency of the magnesium and the vitamin B6 therapy in patients with multiple symmetric lipomatosis. The obtainment in this range of reliable conclusions require of research at the greater number of patients. We want to underline that there are any research of the influence of the magnesium and the vitamin B6 on the course of this disease in the literature.