No abstract available.
Lipomatosis, Multiple Symmetrical*

No abstract available.
Lipomatosis, Multiple Symmetrical*

No abstract available.
Lipoma* ; Lipomatosis, Multiple Symmetrical*

No abstract available.
Lipomatosis, Multiple Symmetrical*

Tay-Sachs Disease (TSD), the most common form of GM(2) gangliosidosis, is an autosomal recessive inborn lysosomal glycosphingolipid storage disease which is resulted from the mutations that affect the alpha-subunit locus on chromosome 15 and cause a severe deficiency of hexosaminidase A. It is characterized by normal motor development in the first few months of life, followed by progressive weakness and loss of motor skills beginning around 6 months of life. Neurodegeneration is relentless and manifested as relentless motor and mental deterioration, beginning with motor incoordination, mental obtundation leading to muscular flaccidity, blindness, and increasing dementia, with death occurring by the age of 4 or 5 years. We report a successful anesthetic management in a patient with Tay-Sachs Diseases for tracheostomy and feeding gastrostomy.
Ataxia ; Blindness ; Chromosomes, Human, Pair 15 ; Dementia ; Gangliosidoses ; Gastrostomy ; Hexosaminidase A ; Hexosaminidases ; Humans ; Motor Skills ; Muscle Hypotonia ; Tay-Sachs Disease* ; Tracheostomy

Familial multiple lipomatosis is a rare hereditary disorder with a proposed autosomal dominant inheritance. Clinically, multiple well-circumscribed, encapsulated lipomas occur on the extremities and trunk. Familial multiple lipomatosis is often confused with multiple symmetric lipomatosis, which is a condition involving a diffuse fatty infiltration around the neck and shoulders. We report two cases of familial multiple lipomatosis with typical clinical features and familial history. To the best of our knowledge, these are the first cases of familial multiple lipomatosis in Korea.
Extremities ; Korea ; Lipoma ; Lipomatosis* ; Lipomatosis, Multiple Symmetrical ; Neck ; Shoulder ; Wills

Multiple symmetric lipomatosis (MSL) is an extremely uncommon disorder. In the medical literatures about 200 cases have been reported. MSL is not associated with other generalized lipomatous disorders, nor are these patient to be necessarily obese. The cause of MSL is unknown. The disorder usually occurs in middle-aged males and there is frequently a history of alcoholism. Some instances of familial occurrence have been reported, but the majority of cases are sporadic. Two cases of MSL are presented.
Humans ; Lipomatosis ; Lipomatosis, Multiple Symmetrical/*diagnosis/pathology ; Male ; Middle Aged

No abstract available.
Brachial Plexus Neuropathies* ; Lipomatosis, Multiple Symmetrical*

Benign symmetric lipomatosis is a rare disease and may appear as a huge tumor in the neck. Four benign symmetric lipomatosis associated with gigantic painless mass or neck motion limitation were reported. Operative technique of one-time radical resection or stage resection was used to remove these tumors. One patient had a postoperative complication of incision effusion and infection, and three patients had no significant complication. At more than one-year follow-up, the motion and appearance of a patient's neck returned to normal, and no recurrence was observed. The etiology, clinical manifestations, diagnosis, and treatment of the disease were discussed.
Humans ; Lipomatosis, Multiple Symmetrical ; Neck ; Recurrence

Just as hyperbetalipoproteinemia is the most common kind of familiar hyperlipoproteinemia, hyperprebetalipoproteinemia or increased very low density lipoprotein (VLDL) and its associated hypertriglyceridemia is an abnormality frequently found in association with several metabolic and nutritional disorders. This VLDL abnormality is demonstrable in high percentage of insulin dependent diabetic children before they receive treatment. It is also observed in many older, overweight, insulin resistant diabetic, with poor control of diabetes. An elevation of VLDL was also observed after ethanol intake. A mild to moderate degree of VLDL elevation is the most frequently observed from of clinical hyperlipidemia. Many investigators reported that hyperprebetalipoproteinemia (hypertriglyceridemia) is associated with an increasing incidence of coronary artery disease. As opposed to hyperbetalipoproteinemia, hyperprebetalipoproteinemia is prone to influence on the development of atherosclerosis in the middle and older aged persons which indicates the importance of triglyceride determination in these aged groups. There has been relatively rare study reported on the triglyceride metabolism in patients with congestive heart failure, essential hypertension and liver disease in Korea. This study was designed to determine serum triglyceride, free fatty acid and glycerol in the disease mentioned in Busan University Hospital between jan. 1975 and December 1976 and analized the change of lipid profile in each different condition. The results were as follows; 1. The mean of serum FFA, triglyceride and glycerol in the 37 normal were as follows 502.32+/-146.54microEq/L, 111.84+/-40.53mg% and 432.00+/-212.13microM/ml. 2. 23 patients with congestive heart failure showed a significant reduction in serum triglycerides (91.96+/-27.80mg%) and a significant increase in serum free fatty acid (576.77+/-129.67microEqL) and glycerol (432.50+/-212.13microM/ml). 3. In 15 patients with essential hypertension a significant elevation of serum triglycerides (149.38+/-42.28mg%) was noted. 4. In 13 patients with liver cirrhosis, a reduction in serum triglycerides (80.50+/-34.27mg%) was noted.
Atherosclerosis ; Busan ; Child ; Coronary Artery Disease ; Estrogens, Conjugated (USP)* ; Ethanol ; Glycerol* ; Heart Failure* ; Humans ; Hyperlipidemias ; Hyperlipoproteinemia Type II ; Hyperlipoproteinemia Type IV ; Hyperlipoproteinemias ; Hypertension* ; Hypertriglyceridemia ; Incidence ; Insulin ; Korea ; Lipoproteins ; Liver Cirrhosis* ; Liver Diseases ; Liver* ; Metabolism ; Nutrition Disorders ; Overweight ; Research Personnel ; Triglycerides*