Rapidly progressive case of type I Madelung disease with bilateral parotid and minor salivary glands involvement.

Context: Madelung disease has been literally classified as a rare disease, more common in Mediterranean population. It is characterized by the presence of multiple symmetrical, non-capsulated storages of adipose tissue.Case description: We present a 56 year old woman with a sudden unexplained progression of swelling in the neck and upper thorax region associated with severe dyspnea. She was admitted with angioedema in the Allergology Department. Radiology images identified a bilateral adipose degeneration of the parotid and minor salivary glands.Conclusions: The diefinitive diagnosis concluded was Type 1 Madelung Disease. The decision was to keep the patient under periodic observation and if any deterioration takes place, surgical intervention will be taken under consideration. Despite non previous findings of Madelung disease in our population this case presented a challenge of emergency diagnosis.

Markers of insulin resistance in a case of Launois-Bensaude syndrome.

Launois-Bensaude syndrome (benign symmetric lipoma-tosis) is a rare disease characterized by symmetric fat deposits localized in the cervical region, shoulders and proximal parts of upper and lower limbs. We present the case of a 63-year-old male who presented the typical location of fatty masses and a history of chronic alcoholism associated with elements defining the metabolic syndrome. The biological profile indicated high-atherogenic mixed dyslipidemia, high basal insulinemia (30 microU/ml), and multiple markers of insulin resistance (Reaven index, lipid accumulation product, homeostatic model, insulin sensitivity index, and modified glycemic curve following oral glucose load). The particularity of the presented case is the discordance between the severity of metabolic disturbances and their clinical expression, raising the question whether this patient's cardiometabolic risk is increased or rather lowered by the association of benign symmetric lipomatosis.

Impaired gonadal function in a woman with multiple symmetric lipomatosis.

Multiple symmetric lipomatosis (MSL, OMIM 151800), is a rare disease characterised by the growth of uncapsulated masses of abnormal adipose tissue around the neck, shoulders or other parts of the trunk and typically associated with high ethanol intake. We describe the case of a 33 year-old woman with MSL and secondary amenorrhea. Despite the presence of an ovarian failure confirmed by undetectable serum levels of inhibin B and anti-Müllerian hormone, the patient had normal serum levels of estrone and gonadotropins coexisting with a biological adrenal hyperandrogenism. We suggest that the adrenal hyperandrogenism observed in our patient could be attributed to an impairment of the cytochrome p450 function, inducing a relative 21-hydroxylase deficiency/insufficiency, related to alcohol abuse and that the increased peripheral aromatization of androgens in estrogens lead to normal circulating levels of estrone. The result is the absence of gonadotropin elevation despite primary ovarian failure. The peculiar functional pattern of brown adipocytes in patients with MSL may contribute to this biological phenomenon with an additive effect related to alcohol consumption. Altogether, these data could help to better define the peculiar pituitary-gonadal profile observed in this rare syndrome and in some cases of women with heavy alcohol consumption.

Differential clinical expression of multiple symmetric lipomatosis in men and women.

BACKGROUND: Multiple symmetric lipomatosis (MSL) is a rare disease characterised by the growth of uncapsulated masses of adipose tissue. MSL is associated with high ethanol intake and complicated by somatic and autonomic neuropathy and the infiltration of adipose tissue at the mediastinal level. To date, the disease is considered as largely more prevalent in men. OBJECTIVE: To provide a detailed description of the clinical aspects of MSL in women. PATIENTS: A total of 11 women and 58 men with MSL. MEASUREMENTS: Morphological aspect of patient, location of the lipomatous masses, alcohol intake, extension of lipomatous tissue to the mediastinum, association with somatic and autonomic neuropathy, and metabolic profile. RESULTS: All female patients had the obesity-like appearance of type II MSL and the most frequent locations of lipomatous masses in women were at the proximal arms (90.9%) and legs (54.5%). Very few female patients (27.3%) presented with the submental deposition of lipomatous tissue typical of both type I (97.3%; P<0.001) and type II (66.7%; P<0.05) male subjects. An extension of the lipomatus tissue around the upper airways, associated with compression or dislocation of deeply located mediastinal structures, was observed less frequently in women than in men. The presence of a high ethanol intake, the association with somatic and autonomic neuropathy and the occurrence of a characteristic metabolic pattern (high HDL-cholesterol, low LDL-cholesterol, high uric acid) were similar in men and in women. CONCLUSIONS: Female patients with MSL had a sex-specific morphological aspect, characterised by a low occurrence of the typical 'Madelung collar' and a usual obesity-like appearance.

Multiple symmetric lipomatosis: clinical aspects and outcome in a long-term longitudinal study.

BACKGROUND: Multiple symmetric lipomatosis (MSL) is a rare disease characterized by the growth of uncapsulated masses of adipose tissue. MSL is associated with high ethanol intake and complicated by somatic and autonomic neuropathy and by the infiltration of the adipose tissue at the mediastinal level. To date, the disease is considered as slowly progressive, but long-term longitudinal data are still lacking. In this study, a long-term follow-up of a large series of MSL patients is presented. METHODS: We studied 31 patients with MSL (30 males and one female) first evaluated at our institution from 1973 to 1992. All patients were followed until 1998-1999 or until death, with a mean follow-up of 14.5+/-5.0 y (range 4-26 y). Both at baseline and during follow-up, the location and the size of the subcutaneous lipomatous fat depots, the presence and the extension of deeply localized lipomatous tissue, and the presence and the severity of both somatic and autonomic neuropathy were evaluated. RESULTS: Eight MSL patients died during follow-up (25.8% of patients). A sudden death was proved to be the cause of death in three patients. All these three patients had severe autonomic neuropathy and none had coronary disease, acute myocardial infarction or other cardiac abnormalities. No signs or symptoms of coronary heart disease were present in the whole series. In addition to this high fatality rate, a substantial morbidity related to the occupation of the mediastinal space by the lipomatus tissue and to somatic neuropathy was also observed. CONCLUSIONS: MSL is associated with a significant morbidity and mortality. Therefore, the definition of 'benign symmetric lipomatosis', still adopted by several authors, cannot be justified.

[Multiple symmetrical lipomatosis with familial polineuropathy]. / Lipomatosis simétrica múltiple con polineuropatía de presentación familiar.

INTRODUCTION: Multiple symmetrical lipomatosis (LSM) is characterized by the development of symmetrical lipomas and is often associated with axonal polyneuropathy (PNP). Presentation is usually sporadic. Familial cases have been reported infrequently, with variable modes of inheritance. The pathogenesis is unknown. It has been related to mitochondrial cytopathy and alterations in lipid metabolism. OBJECTIVES: To establish clinico pathological correlation in our cases of familial presentation. Patients and methods. We report seven patients, from three families, teetotalers with LSM. Clinical assessment included lipidogram, neurophysiological study of nerve and muscle, sural nerve biopsy in two of them and muscle biopsy in one member of each family for morphological assessment, respiratory chain biochemistry and study of molecular genetics. RESULTS: LSM was associated with axonal PNP and hyperlipidemia in the seven members of the three families, with an apparent pattern of autosomal recessive inheritance. No conclusive data of mitochondrial cytopathy, in the form of significant morphological changes, biochemistry of the mitochondrial respiratory chain or micochondrial DNA were found. CONCLUSION: Although mitochondrial cytopathy has been described as part of the syndromes in which LSM occurs, there may be other undefined aspects, such as disorders of lipid metabolism which form part of the pathogenesis.

Long-term results following surgical treatment of benign symmetric lipomatosis (BSL).

Benign symmetric lipomatosis is a rare disease. Its main characteristic is the symmetric deposition of fat, in an unencapsulated form, at typical sites in the body, but primarily in the head and neck region. Its aetiopathogenesis is unknown. A disturbance of lipid metabolism is involved, and there is a proven connection with chronic alcoholism. Problems with the differential diagnosis of the characteristic clinical picture arise from the fact that this disease is not widely recognized. Over a period of 30 years, the authors treated 31 patients with benign symmetric lipomatosis. They review the pertinent literature and report retrospectively on the fates of the 11 surviving patients.

Extremely high HDL levels in a patient with multiple symmetric lipomatosis.

An extreme form of hyperalphalipoproteinemia was studied in a patient affected by multiple symmetric lipomatosis (MSL); four relatives and three MSL controls were also evaluated. Plasma lipids and apolipoproteins were measured and overall lipoprotein profile was assessed by density gradient ultracentrifugation. The patient showed a plasma HDL-cholesterol of 138 mg/dl and an apo A-I of 218 mg/dl; moreover significantly high HDL levels were found in two unaffected relatives. The hypobetalipoproteinemia trait was also found both in the patient and in one of his daughters. We suggest that some pre-existing conditions may enhance lipoprotein metabolism alterations in this lipid storage disease.

Insulin sensitivity and metabolic clearance rate of insulin in familial multiple lipomatosis.

Intolerance to glucose in certain kinds of lipomatosis is well documented. This article describes a euglucaemic hyperinsulinaemic clamp study of alterations in glucose and/or insulin metabolism in four members of a single family with familial multiple lipomatosis. Fifteen normal subjects were studied as controls. The four patients exhibited no alteration in tolerance to orally administered glucose. When a Biostator Glucose-Controlled Insulin Infusion System (GCIIS) was used to clamp glycaemia at 4.44 mmol/L with successive insulin infusion rates of (a) 0.5 (b) 1.0 or (c) 5.0 mU/kg/min, there was no difference between patients and controls as regards the value of M, the rate of glucose infusion, but the concentrations of immunoreactive insulin recorded during the last 40 minutes of each phase of the clamp were greater in patients than in controls (45 +/- 2 vs 27 +/- 2 uU/mL (p less than 0.01), 83 +/- 2 vs 60 +/- 5 uU/mL (p less than 0.05) and 537 +/- 48 vs 377 +/- 25 uU/mL (p less than 0.05) for insulin infusion rates (a), (b) and (c) respectively), and the ratio M/IRI was consequently smaller for patients than controls (1.92 +/- 0.41 vs 3.06 +/- 0.19 (p less than 0.05) for an insulin infusion rate of 5 mU/kg/min). The metabolic clearance rate of insulin was likewise slower in patients than controls (p less than 0.01). It is concluded that the four patients studied (all members of the same family) have sub-normal sensitivity to insulin secondary to a sub-normal metabolic clearance rate for insulin.