| Type I multiple symmetrical lipomatosis (MSL; Madelung's disease) is characterized by lipomas in the nape of the neck and the supraclavicular and deltoid regions, resulting in a bull-necked appearance (Madelung's collar). It is most common in alcoholic men between 35 and 50 years of age. Type I MSL has been reportedly associated with hyperinsulinemia, but its association with diabetes mellitus is rarely discussed. We describe a case of non-insulin-dependent diabetes mellitus (NIDDM) associated with type I MSL. A 47-year-old alcoholic man presented with a seven-year history of hyperglycemia and progressive neck swelling with dysphagia for one year. physical examination showed diffuse and symmetrical swelling of the bilateral posterior aspects of the neck. biochemistry profiles revealed elevated concentrations of fasting serum glucose (276 /- 16 mg/dl), triglycerides (358 /- 79 mg/dl) and total cholesterol (323 /- 28 mg/dl). Endocrinologic studies showed normal thyroid function. neck sonography revealed diffuse thickening and swelling of the fatty structures of both sides of the neck. Normal sonography showed no fatty deposition in the liver. Maxillary and neck computerized tomography revealed diffuse fat accumulation in the submental and posterior neck regions, with no extension to the superior mediastinum. Fine needle aspiration cytology of the neck masses showed only fat cells. The patient received an oral hypoglycemic agent (glibenclamide 5 mg bid) for blood glucose control and lovastatin (20 mg before bed-time) for hyperlipidemia, and ceased drinking alcohol. The neck swelling resolved markedly after 15 months of medical treatment. This suggests that, in addition to the cessation of alcohol consumption, the reduction of blood glucose and lipid concentrations by medication may also assist in resolving the accumulated fat of type I MSL in patients with NIDDM. ( info) |
2/85. head and neck cancers associated with Madelung's disease. BACKGROUND: Madelung's disease is a rare lipodystrophy that presents with multiple fatty masses in the neck, trunk, and upper extremities. The fatty accumulation is considered a benign disease, but compression of the aerodigestive tract may occur in long-standing disease. methods: Eight Chinese patients with Madelung's disease were reviewed. All were male, aged 48 to 67 years, with a history of disease ranging from 4 to 20 years. Two of the eight patients developed aerodigestive symptoms and were subsequently found to have head and neck cancers. These two patients are described. RESULTS: The possible mechanism that may account for an increase in malignant tumors of the airway in this group of patients is the synergistic effect of smoking and alcohol abuse as risk factors for both Madelung's disease and malignant tumors of the airway. Currently it is recommended that these patients should have their fatty lesions removed surgically. The removal of fat facilitates examination of the neck for signs of cervical lymphadenopathy in malignant disease. CONCLUSIONS: patients with Madelung's disease should be followed regularly. The development of aerodigestive symptoms should be fully investigated with endoscopy and imaging. The cause of symptoms should not be attributed to fatty compression until a carcinoma of the upper airway has been excluded. ( info) |
3/85. A case of multiple symmetrical lipomatosis (Madelung's disease). Multiple symmetrical lipomatosis (Madelung's disease) is a rare disease with multiple symmetrical unencapsulated fatty accumulation diffusely involving the neck, the shoulders and the upper extremities (Kohan et al. Otolaryngol. head neck Surg. 1993;108:156-159). We describe a 48-year-old Japanese man with a history of alcoholism and liver cirrhosis who reported gradually enlarging masses in his cervical region for 4 years. MRI revealed large masses suggesting lipomas in the neck. The patient underwent a two-stage lipectomy. This patient is the 13th case reported in japan since 1978, though over 200 cases have been reported since 1846 in europe, most of them from the Mediterranean (Kitano et al. ORL 1994;56:177 180; Kaku et al. Endocrinol. Diabetol. 1997;4:103-106). ( info) |
4/85. Efficacy of lipectomy and liposuction in the treatment of multiple symmetric lipomatosis. BACKGROUND: Multiple symmetric lipomatosis (MSL) is a rare disease characterized by enlarging, symmetric, nonencapsulated, fat deposits mainly on the neck and upper trunk. Liposuction and lipectomy, although palliative, are the treatments of choice, especially indicated when vital structures are compromised. OBJECTIVE: Our purpose was to evaluate the efficacy and safety of liposuction and lipectomy in the treatment of MSL. methods: We have examined two patients diagnosed with MSL who presented with symptoms derived from the compression of vascular, nervous, and/or respiratory tract structures. One was treated with lipectomy and the other with liposuction. RESULTS: A rapid resolution of the clinical symptoms was achieved with both therapies. The patient who was treated with lipectomy suffered from a compression of the left brachial plexus by scar tissue as an adverse effect, requiring a second surgical procedure. Liposuction only provoked a mild autoinvolutive hematoma in the other case. No clinical recurrences were observed at 3 and 2 years of follow-up respectively. CONCLUSIONS: We consider both lipectomy and liposuction as safe and effective techniques for the treatment of MSL patients. Although liposuction is usually associated with less adverse effects than lipectomy, location of the lipomas must be carefully considered before choosing one technique over another. ( info) |
5/85. Multiple Symmetric lipomatosis--MR appearances. Multiple Symmetric lipomatosis (MSL) is a rare disorder of lipid metabolism which is mainly seen in Mediterranean and eastern European populations, which results in massive fat accumulation mainly around the neck and back. The main differential diagnosis lies between MSL and the fat accumulation of Cushing's disease, and liposarcoma. This case demonstrates that MR imaging is a valuable aid to the diagnosis and treatment of this disease by giving excellent definition of soft tissue and vascular structures, allowing accurate assessment and preoperative planning of the disease. ( info) |
6/85. Madelung's disease involving the tongue. Madelung's disease or benign symmetric lipomatosis is rare. Symmetric lipomatosis of the tongue as an association of Madelung's disease is very rare; up to now only two cases of this association have been reported. We report the third case of Madelung's disease with involvement of the tongue in the form of macroglossia. ( info) |
7/85. lipomatosis, proximal myopathy, and the mitochondrial 8344 mutation. A lipid storage myopathy? Multiple symmetric lipomatosis (MSL) has been related in some cases to the 8344 point mutation of the tRNA-lysine gene of the mitochondrial dna, mainly in the context of families with classic myoclonic epilepsy with ragged-red fibers (MERRF) and exceptionally in patients with proximal myopathy as the only manifestation of mitochondrial disease. We report on two families harboring the 8344 mutation. The patients presented with MSL and myopathy, expressed as limb girdle weakness in index cases and as exercise intolerance in the others. All muscle biopsies performed showed lipid storage apart from RRF and respiratory chain complexes deficiency. A possible explanation for both adipose proliferation and lipid storage myopathy in these cases is a disturbance in intermediary lipid metabolism secondary to mitochondrial respiratory chain deficiency that could be related via carnitine deficiency. ( info) |
8/85. Progressive muscle pain, weight gain, fatique and unusual body shape change. Multiple symmetrical lipomatosis (MSL) is a rare syndrome characterized by symmetric unencapsulated lipomas around the axial region and frequently associated with neurological involvement, particularly myopathy and neuropathy (Klopstock et al., 1994). Here we present a typical image of a patient with MSL, explaining this disease for neurologists who might care for these patients in an average day at the neuromuscular consultation unit. ( info) |
9/85. Multiple symmetric lipomatosis: an unusual cause of childhood obesity and mental retardation. Multiple symmetric lipomatosis (MSL), also known as Launois-Bensaude syndrome or Madelung's disease, is a rare disorder predominantly seen in middle-aged male patients. The disorder is characterized by large subcutaneous fat masses distributed around the neck, shoulders, and other parts of the trunk, often associated with nervous system abnormalities. A close relationship to alcoholism, metabolic disturbances and malignant tumours has been observed. Until now, MSL has only been described in adults. We report on the first two children, a 9-year-old girl and a 13-year-old boy, with the characteristic clinical findings of MSL. The girl presented with severe obesity, developmental delay, mild mental retardation, peripheral neuropathy, and latent hypothyroidism. In addition, she had elevated lactate concentrations in blood and cerebral spinal fluid suggesting mitochondrial dysfunction. Biochemical analyses of muscle showed a respiratory chain complex II deficiency. The boy suffered from severe obesity, mild mental retardation and insulin resistant diabetes mellitus. In both children, analyses of the mitochondrial genome did not reveal major deletions nor the MERRF 8344 point mutation. MSL seems to be a new neurometabolic disorder with heterogeneous clinical expression whose pathogenesis is still unknown. ( info) |
10/85. A t(2;19)(p13;p13.2) in a giant invasive cardiac lipoma from a patient with multiple lipomatosis. Cardiac lipomas occur infrequently but account for a significant portion of rare cardiac tumors. Common cutaneous lipomas have previously been associated with rearrangements of chromosome band 12q15, which often disrupt the high-mobility-group protein gene HMGIC. In this report, we describe the cytogenetic analysis of an unusual giant cardiac lipoma that exhibited myocardial invasion in a patient with a history of multiple lipomatosis (cutaneous lipoma, lipomatous gynecomastia, lipomatous hypertrophy of the interatrial septum, and dyslipidemia). Cytogenetic studies of cells derived from the cardiac lipoma demonstrated no abnormalities of chromosome 12, but did reveal a t(2;19)(p13;p13.2). A liposarcoma-derived oncogene (p115-RhoGEF) previously mapped to chromosome 19 and the low-density lipoprotein receptor gene (LDLR) previously mapped to chromosome band 19p13 were evaluated to determine whether they were disrupted by this translocation. fluorescence in situ hybridization analyses assigned p115-RhoGEF to chromosome 19 in bands q13.2-q13.3 and mapped the LDLR to chromosome arm 19p in segment 13.2, but centromeric to the t(2;19) breakpoint. Thus, these genes are unlikely to be involved in the t(2;19)(p13;p13.2). Further studies of the regions of chromosomes 2 and 19 perturbed by the translocation in this unusual infiltrating cardiac lipoma will identify gene(s) that participate in adipocyte growth and differentiation and may provide insight into syndromes of multiple lipomatosis. ( info) |