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At least 1,171 records · Page 65Linked to original sources
PubMed1978

Molecular biology of metabolic disease: defects in the regulation of enzymic activity.

The Jacob-Monod model for the regulation of enzymic activity has been used in the analysis of some types of metabolic disease. Three lesions have been considered: (1) loss of allosteric inhibition of phosphofructokinase by citrate in the condition of lipomatosis; (2) failure of covalent modification of triglyceride lipase from inactive to active forms in the condition of triglyceride storage disease, and (3) failure of repression of HMG-CoA reductase by a mutant low-density liprotein in a new variant-of familial hypercholesterolaemia. Defects in enzymic regulation are contrasted with catalytic defects (the inborn errors); the major difference being an accumulation of a normal metabolic end-product of an unregulated pathway, rather than accumulation of an unusual intermediary metabolite as in the inborn errors.

Adipose Tissue↗
PubMed1996

Unusual etiology of cough in a woman with asthma.

A case of multiple symmetric lipomatosis (Madelung's disease) acquired through chronic use of corticosteroids is reported. Presumed symptoms of asthma, which consisted of a barking cough, were treated with escalating doses of steroids. We postulate that excessive use of steroids led to extensive mediastinal fatty infiltration with narrowing of the trachea and mainstem bronchi as noted both radiographically and bronchoscopically. When the steroids were tapered, there was marked improvement of the patient's symptoms and resolution of the upper airway intrathoracic obstruction. When patients with asthma are receiving optimal therapy and fail to improve, other causes for their symptoms should be considered.

Adrenal Cortex Hormones↗
PubMed1991

Endorectal sonography in the evaluation of rectal and perirectal disease.

Endorectal sonography initially was developed for evaluation of the prostate and now has been adapted for evaluation of rectal and perirectal disease. We used endorectal sonography to evaluate a spectrum of diseases, including primary and recurrent rectal carcinoma, metastases, villous adenoma, leiomyosarcoma, endometriosis, sacrococcygeal teratoma, chordoma, retroperitoneal cystic hamartoma, pelvic lipomatosis, diverticulitis, and perirectal abscess. The technique has been useful in localization of perirectal abscesses and in sonographically guided biopsy of perirectal masses. Knowledge of normal sonographic anatomy of the rectum is essential in the evaluation of rectal and perirectal disease. In this essay, we describe the technique of endorectal sonography and illustrate the sonographic findings in a variety of diseases.

Abscess↗
PubMed2006

[Association of adenocarcinoma of esophagus and breast cancer in a male with Madelung' disease].

The development of a cancer of the esophagus in women who previously had received radiotherapy for breast cancer is a known although infrequent event. The risk of apparition of the second neoplasia is greater in women who survive at least ten years after the exposition to the radiation. Squamous cell carcinoma is the histological subtype more frequent. We report a case of adenocarcinoma of the esophagus in a man diagnosed of benign symmetrical lipomatosis (Madelung' disease), who had received adjuvant radiotherapy three years before for breast cancer.

Adenocarcinoma↗
PubMed2000

[Madelung disease and obstructive sleep apnea syndrome: apropos of a case].

Madelung's disease, or benign symmetric lipomatosis, is an uncommon disease. It is an unencapsulated fatty infiltration which in rare cases extends into the perilaryngeal space and mediastinum. The authors present a case complicated by an obstructive syndrome and sleep apnoea syndrome, which was successfully treated by continuous positive airway pressure. The literature is reviewed.

Humans↗
PubMed1999

[A patient with Madelung's disease at the internal medicine department].

Madelung disease, benign symmetrical lipomatosis, is a rare disorder of unknown etiology. It is characterized by the accumulation of fat deposits around the neck and upper body. It is often associated with glucose intolerance, liver disease, and malignant tumors of the lungs. This disease normally affects middle-aged males with a history of alcohol abuse. Surgical removal of the lipomatose mass is the treatment of choice. A case of Madelung disease in a 53-year old man with hepatopathy and respiratory failure is presented.

Humans↗
PubMedDate not supplied

[Ischemic ulcer in Madelung disease].

We describe a 50 years old man with multiple symmetric lipomatosis (Madelung disease) and two years history of intermittent claudication who was hospitalized because of persistent ulcer of left foot. Lipomata were located on the neck, shoulders and chest; they enlarged gradually over a few years, becoming huge in size. Ulceration of the foot appeared a few weeks before hospitalization and its ischaemic origin was uncertain because of atypical character (painless, ankle/brachial index > 0.5). After angiographic examination patient was assigned for conservative treatment. Intravenous infusions of alprostadil were given with poor effect. Because of gradual enlargement of the ulceration, pain intensification and relatively favourable angiographic picture aorto-bifemoral prosthesis implantation was performed with satisfactory short-therm effect. In addition, patient required vitamin B12 supplementation due to megalocytic anemia.

Alprostadil↗
PubMed2001

[Endobronchial localization of Launois Bensaude syndrome].

Launois Bensaude syndrome is a benign, asymetric lipomatosis involving the upper back, shoulders, neck and arms. The disorder is usually asymptomatic although mediastinal lipomas, extrinsic compression of trachea, obstructive sleep apnea syndrome have been described. We report for the first time to our knowledge a case of Launois Bensaude syndrome with bronchial submucosal adiposis infiltration presenting as flask, smooth, begnin tumor like formation involving several bronchi. Whether this submucosal adipose infiltration participate to the obstructive syndrome is discussed.

Adipose Tissue↗
PubMedDate not supplied

Launois-Bensaude syndrome and Bureau-Barrière syndrome in a psoriatic patient: successful treatment with carbamazepine.

Authors report a 41-year-old male patient with multiple symmetric lipomatosis, who also had psoriasis. In addition he suffered from peripheral neuropathy, acro-osteolysis and malum perforans pedis fulfilling the criteria of Bureau-Barrière syndrome. Considering the severe peripheral neuropathy and the preliminary report on the efficacy of carbamazepine in psoriasis, a carbamazepine monotherapy was initiated for both indications. The psoriatic skin symptoms cleared within 6 weeks. The patient has continued this medication for 8 months without side effects. During that time his skin remained symptom free and the neuropathy has improved.

Adult↗
PubMed2002

[Rare case of Madelung disease].

Madelung's disease, also known as benign symmetric lipomatosis (BSL), is a rare condition characterized by symmetric, painless fatty deposits arranged around the neck and shoulders girdle. This deformity is usually associated with chronic alcohol. The etiology remains unclear although some authors suggest that mitochondrial dysfunction represents the essential biochemical defect in BSL. This report describes a patient with this deformity. Lipomas were present in the pre-postauricular and nuchal area.

Humans↗
PubMed2002

[Lipomatous pleomorphic adenoma of the parotid].

Lipomatous tumors rarely occur in the salivary glands. We report an unusual case of lipomatous pleomorphic adenoma in a 47-year-old man. The patient had no significant medical history and presented with a well circumscribed nodule measuring 3 cm in the right parotid. Histologically, the tumour was predominantly composed of sheets of mature fat cells. Rare myoepithelial cells and exceptional tubules were intermingled with the mature adipose tissue. One year after surgery the patient was alive without recurrence. In conclusion, it is a rare neoplasm who needs to be recognized and discussed with true fatty tumors and lipomatosis.

Adenoma↗
PubMedDate not supplied

Mediastinal widening in a patient of ulcerative colitis.

A case of ulcertaive colitis on long-term corticosteroid therapy presenting with mediastinal widening and diagnosed to have mediastinal lipomatosis an thoracic computed tomography is presented.

Adrenal Cortex Hormones↗
PubMed1992

Scalp lipomas and cerebral malformations--report of a case and review of the literature.

A child is reported with a scalp lipoma and underlying bony skull defect and porencephaly. The clinical picture is compatible with a diagnosis of encephalocraniocutaneous lipomatosis, although there is no alopecia overlying the lipoma and no scleral lesions. In addition, this child has unilateral ptosis and syndactyly. This report extends our appreciation of the phenotype of this neurocutaneous disorder.

Abnormalities, Multiple↗
PubMedDate not supplied

Pneumatosis cystoides of the right colon: a possible source of misdiagnosis. Report of a case.

Pneumatosis cystoides intestinalis is a rare condition that can be located in any part of the gastrointestinal tract. It is usually associated with a wide variety of gastrointestinal or pulmonary diseases. The primitive form is much less frequent and usually involves the left colon. The pathogenesis of pneumatosis cystoides intestinalis is still unclear. The mechanical theory, which is the most accepted explanation, postulates that gas is forced into the bowel wall by breaks in the mucosa; this is more likely to occur when the intraluminal pressure is higher, as happens in obstructive conditions, during endoscopies, or during infections from gas-forming bacteria. Pneumatosis cystoides is often asymptomatic, representing an occasional finding during investigations for other abdominal conditions. Complications occur in about 3% of cases and include obstruction, intussusception, volvulus, haemorrhage and intestinal perforation. When presenting acutely or in association with other abdominal conditions the differential diagnosis is rarely a problem. More important is to diagnose asymptomatic primitive submucosal pneumatosis of the colon, in order to avoid unnecessary intestinal resections. The Authors present the case of a patient with pneumatosis coli who underwent laparotomy for a suspected colonic lipomatosis of the right colon.

Colon↗
PubMed2006

Airway management: a patient with Madelung disease.

This case study describes a 51-year-old, ASA physical status II Hispanic man who underwent liposuction to the anterior neck and resection of adipose tissue of the posterior neck. The patient was diagnosed with multiple symmetric lipomatosis, better known by its eponym, Madelung disease. This disease is characterized by abnormal adipose tissue growth primarily in the neck and shoulder regions. As a result of this pathology, a complete airway assessment was challenging. The patient's Mallampati classification was class III with visualization of the soft palate only. Other elements of a full assessment such as thyromental distance, sternomental distance, and tracheal orientation were impossible to evaluate because of the extreme circumferential girth of the adipose tissue in the neck. In addition, flexion and extension of the neck was limited by a minimum of 20 degrees because of the pathology. The patient was deemed as having a difficult airway, and an awake fiberoptic intubation was planned and used successfully. The subsequent surgical procedure progressed without incident, and the patient was transferred to a stepdown unit for monitoring of his airway postoperatively.

Airway Obstruction↗
PubMed2006

[Multiple primitive lipoma of the transverse mesocolon: a rare disease].

The Authors describe a case of multiple lipomatosis of the mesocolon and, after a careful review of the literature, they examine particular findings and discuss diagnostic difficulties, anatomopathological features and treatment. Intraabdominal lipoma is very rare and presents difficulties in diagnosis, both for aspecific symptoms and for the unusual site which does not allow early identification. As it is a tumor which arises from primitive and totipotent mesenchymal cells, radical surgery is the only therapeutic option. The correct diagnosis depends on histological testing which can differentiate the lesion from other mesenchymal tumors.

Adult↗
PubMedDate not supplied

[Cholestatic jaundice complicating lipomatous pseudo-hypertrophy of the pancreas].

The authors describe a major pancreatic lipomatous infiltration, causing a "pseudo-hypertrophy" of the pancreas, in a 70-year-old man. This lesion was responsible of a hyperechogenic area at ultrasonography and of an empty pancreatic bed ("vanishing pancreas") at computed tomography, suggesting lipomatosis. This entity is a special modality of senescence of pancreatic tissue whose origin remains obscure. The progressive atrophy of the acinar lobules and the islets of Langerhans was finally responsible of a mild degree of malabsorption and of diabetes type II. The compression of the main bile duct by the enlarged lipomatous pancreas, demonstrated by percutaneous cholangiography, caused a cholestatic jaundice with abdominal pain, which was treated by a surgical derivation (hepatico-duodenostomy). This is the first description of a lipomatous pseudohypertrophy of the pancreas causing an obstruction of the common bile duct.

Aged↗