1/51. lipodystrophy associated with protease inhibitors.Lipodystrophies, characterized by reduction of subcutaneous fat over part or all of the body surface, are uncommon. Their causes are unknown. Recently, lipodystrophy has been reported in human immunodeficiency virus (hiv)-infected patients taking protease inhibitors, which have been recommended since 1996 as standard therapy for hiv disease in combination with nucleoside analogues. In these cases, lipodystrophy consists of an association of peripheral lipoatrophy with central adiposity. We report four hiv-infected men on protease inhibitors who developed a disfiguring lipodystrophy. In three of them, the protease inhibitor was administered for a mean duration of 21.5 months (range 19-23) with good immunological and virological responses. Patient 4 had been treated for 2 years with successive combinations of protease inhibitors with nucleoside analogues without success. The four patients progressively developed an increase in abdominal girth associated with fat wasting of the face and legs. Two of them had recurrent paronychia of the great toes. Triglyceride levels were moderately increased in all patients, and one had a slightly increased cholesterol level. One patient had elevated glucose and insulin plasma levels during a glucose tolerance test. In two patients, a deep biopsy taken from the thigh showed thinning of the subcutaneous fat without other morphological changes. Computed tomographic scans of the face and abdomen confirmed the loss of almost all subcutaneous fat of the cheek and temporal regions, and abdominal perivisceral fat accumulation. For patients 1-3, the protease inhibitor was replaced by a non-nucleoside reverse transcriptase inhibitor. Nine months later, dysmorphic changes had not regressed, but lipid abnormalities had returned to normal and the paronychia had disappeared.- - - - - - - - - - ranking = 1keywords = glucose (Clic here for more details about this article) |
2/51. Membranous lipodystrophy presenting with palilalia: a PET study of cerebral glucose metabolism.A case of membranous lipodystrophy (Nasu-Hakola disease; NHD) associated with palilalia was reported. A 38-year-old Japanese woman developed walking difficulty in her twenties. At age 35 she manifested neuropsychiatric symptoms characterized by euphoria, palilalia and dementia. A bone marrow biopsy showed periodic acid Schiff-positive membranous cystic lesions in the adipose tissue. Positron emission tomography with (18F)-2-fluoro-2-deoxy-D-glucose disclosed that regional cerebral glucose metabolism was decreased in the bilateral frontal white matter with mild hypometabolism in the thalamus and basal ganglia; all predominantly on the right. Taken together with the previous postmortem findings, it is postulated that frontal lobe hypofunction, predominantly in the right hemisphere, produced the unique neuropsychiatric symptoms in this patient.- - - - - - - - - - ranking = 54.770335457884keywords = glucose metabolism, glucose, metabolism (Clic here for more details about this article) |
3/51. Barraquer-Simons lipodystrophy, Raynaud's phenomenon and cutaneous vasculitis.We report a 32-year-old man who presented with a 2-year history of unexplained weight loss and symptoms of Raynaud's phenomenon. Clinical examination and investigations were consistent with a diagnosis of acquired partial lipodystrophy (Barraquer-Simons disease). This patient also exhibited an associated cutaneous vasculitis and peripheral perniotic changes. He had normal renal function and glucose tolerance and no immunological abnormality has been detected in his serum to date. The absence of C3-nephritic factor in the presence of overt lipodystrophy suggests that there may be another factor or immunological mediator responsible for the subcutaneous changes seen in patients with lipodystrophy.- - - - - - - - - - ranking = 0.5keywords = glucose (Clic here for more details about this article) |
4/51. scoliosis in a patient with lipodystrophy--treatment difficulties and literature review.A 12 year-old Chinese schoolgirl presented with left-sided scoliosis at the age of 9 years. She has a rare defect in lipid metabolism, which is not known to be associated with spinal deformity. Her scoliotic curve deteriorated despite bracing. We report a rare occurrence of scoliosis in patient with lipodystrophy and the difficulty of using instrumented fusion in treating this condition.- - - - - - - - - - ranking = 0.10431552939016keywords = metabolism (Clic here for more details about this article) |
5/51. lipodystrophy.Congenital lipodystrophy is an uncommon autosomal recessive disorder that occurs mainly in females and is characterized by loss of subcutaneous fat, insulin-dependent diabetes mellitus, and masculinization due to defective metabolism of fat. Acquired lipodystrophy is now most commonly encountered in patients infected with hiv who take protease inhibitors. We present an illustrative case of lipodystrophy and review the presenting signs allowing for an accurate clinical diagnosis.- - - - - - - - - - ranking = 0.10431552939016keywords = metabolism (Clic here for more details about this article) |
6/51. Congenital generalized lipodystrophy in a 4-month-old infant.Congenital generalized lipodystrophy (CGL, Berardinelli-Seip syndrome) is a rare autosomal recessive disorder with a clinical presentation of paucity of adipose tissue, muscular hypertrophy, organomegaly, and insulin-resistant diabetes. A 4-month-old Taiwanese female infant had hepatosplenomegaly and low body weight gain despite a voracious appetite. Hypermetabolism, hyperhidrosis, loss of subcutaneous fat, muscular hypertrophy, acanthosis nigricans, hypertrichosis, and marked hypertriglyceridemia were also noted. liver histology revealed fatty change and portal-to-portal bridging fibrosis. Clinical features, serum biochemistry, and liver histology were compatible with the diagnosis of CGL. She was given a special diet characterized by calorie restriction and partial substitution of long-chain triglycerides with medium-chain triglycerides. The serum triglyceride concentration subsequently decreased. This present case suggests that extensive fatty infiltration and subsequent cirrhosis of the liver may be the earliest complication of CGL.- - - - - - - - - - ranking = 0.10431552939016keywords = metabolism (Clic here for more details about this article) |
7/51. Triglyceride-induced diabetes mellitus in congenital generalized lipodystrophy.High levels of triglycerides and free fatty acids have been implicated in the pathogenesis of type 2 diabetes mellitus (DM). Congenital generalized lipodystrophy (CGL) is an autosomal recessive syndrome characterized by intense whole body reduction of subcutaneous fat. Its clinical manifestations appear during the first years of life. However, DM is usually a late event. We report a patient with CGL, diagnosed at 4 months of age, who has severe hypertriglyceridemia (serum triglyceride 12.34 mmol/l and cholesterol 3.90 mmol/l), muscular hypertrophy, hepatomegaly and DM (fasting glycemia 25.9 mmol/l). Hepatic biopsy revealed steatosis and fibrosis. A modified normolipidic (composed of medium chain triglycerides) normocaloric normoproteic milky diet and insulin therapy were instituted. After 1 month treatment a reduction of serum glucose and triglyceride levels (4.13 mmol/I and 7.7 mmol/l, respectively) was noted, with later normalization, which led to the discontinuation of insulin therapy. The patient has been maintaining good control with diet alone, presenting normal serum lipid levels (triglycerides 1.07 mmol/l, total cholesterol 2.71 mmol/l) and the following glycemic profile at OGTT: 0' 4.4 mmol/l; 30' 7.0 mmol/l; 60' 3.8 mmol/l; 90' 5.3 mmol/l, and 120' 5.2 mmol/l. The disappearance of hepatic steatosis was evidenced by a biopsy obtained 1 year after the beginning of treatment. In conolusion, this report suggests that the DM occurring in CGL can be precipitated by high triglyceride levels.- - - - - - - - - - ranking = 0.5keywords = glucose (Clic here for more details about this article) |
8/51. Metabolic studies in familial partial lipodystrophy of the lower trunk and extremities.A familial syndrome of partial lipodystrophy inherited as a dominant trait is reported. subcutaneous fat loss was confined to the extremities and trunk. diabetes mellitus, hyperlipidemia, hepatomegaly and renal disease were very prevalent in this family. Metabolic studies were performed on 3 members. In vivo tests suggested that the remaining fat tissue responded normally to stimulators and inhibitors of lipolysis. in vitro incubation of the dystrophic fat tissue of one patient suggested that the intracellular pathways of lipid and glucose metabolism were normal. The pattern of subcutaneous loss of adipose tissue observed in this family may be due to sympathetic nervous system overactivity of certain non-contiguous dermatomes.- - - - - - - - - - ranking = 10.833203985699keywords = glucose metabolism, glucose, metabolism (Clic here for more details about this article) |
9/51. Exogenous cushing syndrome mimicking human immunodeficiency virus lipodystrophy.A 45-year-old man infected with human immunodeficiency virus (hiv) developed abnormal fat accumulations that initially were believed to be caused by hiv lipodystrophy. Further clinical evaluation revealed, however, that the patient had developed exogenous cushing syndrome, which presumably was caused by the inhibition of CYP3A4's metabolism of inhaled fluticasone by the protease inhibitor ritonavir. Clinicians should be aware that clinical clues may indicate conditions other than lipodystrophy that may cause abnormal fat accumulation and that fluticasone should be cautiously administered to patients who are receiving ritonavir.- - - - - - - - - - ranking = 0.10431552939016keywords = metabolism (Clic here for more details about this article) |
10/51. Cephalothoracic lipodystrophy with hypocomplementemic renal disease: discordance in identical twin sisters.This report describes the occurrence of cephalothoracic lipodystrophy in one of 7-yr-old identical twin sisters. The affected twin had classical loss of sc fat from her face, upper arms, and trunk as well as associated hypocomplementemia, microscopic hematuria, and a borderline oral glucose tolerance test without hyperinsulinism. The unaffected twin had a normal urinalysis, serum complement, and oral glucose tolerance. Both twins, when challenged iv with LRH or TRH, showed appropriate FSH and LH or TSH and PRL responses, respectively. This report, in conjunction with another similar twin pair recently described in the German literature, makes a simple, single gene genetic etiology untenable and supports the view that cephalothoracic lipodystrophy in an acquired disease.- - - - - - - - - - ranking = 1keywords = glucose (Clic here for more details about this article) |
| | Next -> |