1/32. Radiation therapy for neurosarcoidosis: report of three cases from a single institution. sarcoidosis is a chronic, multisystemic disorder of unknown etiology. The incidence of central nervous system involvement is as high as 5%. Although steroids have been the cardinal treatment for sarcoidosis, many patients become symptomatically unresponsive to them. Other patients may suffer from glucose intolerance, cataracts, and obesity, which are adverse effects of high-dose steroids. Various reports in the literature suggest that some chemotherapeutic agents and/or radiation may be useful in these situations. We present three patients with neurosarcoidosis who were treated with radiation at a single institution. We also review previous reports on radiation-treated neurosarcoid patients. While the results vary, some patients clearly derive symptomatic benefits from low-dose radiation. Since the side effects of low-dose cranial irradiation are minimal, it may be prudent to use radiation therapy for patients who are refractory to steroids or who suffer adversely from high-dose steroids. ( info) |
2/32. Adverse metabolic and cardiovascular risk following treatment of acute lymphoblastic leukaemia in childhood; two case reports and a literature review. We report two patients who survived childhood acute lymphoblastic leukaemia (ALL) following treatment with chemotherapy, total body irradiation (TBI) and bone marrow transplantation (BMT). The first case presented with an acute cerebral infarction at 23 years of age and was found to have non-ketotic diabetes and gross mixed hyperlipidaemia; the second presented with non-ketotic diabetes, hypertension, proteinuria and dyslipidaemia at age 16 years. The association of glucose intolerance with other vascular risk factors in young adult survivors of BMT was recently highlighted in a follow-up study of 23 survivors of BMT [1], but none presented with such gross mixed hyperlipidaemia. The improving survival rates of childhood malignancy over the last two decades will present adult physicians with patients who have accelerated vascular risk at a young age who will require early treatment to modify it. ( info) |
3/32. apolipoprotein a-i deficiency with accumulated risk for CHD but no symptoms of CHD. We evaluated a 69-year-old Japanese woman with apolipoprotein (apo) A-I deficiency, high levels of low-density lipoprotein (LDL)-cholesterol, hypertension and impaired glucose tolerance. The patient had corneal opacity, but neither xanthomas, xanthelasma, nor tonsillar hypertrophy. She was not symptomatic for coronary heart disease (CHD), and had normal electrocardiograms at rest and exercise using a cycle ergometer. She had severely reduced levels of high-density lipoprotein (HDL)-cholesterol (0.10-0.18 mmol/l) and no apo A-I (<0.6 mg/dl). LDL-cholesterol and apo B as well as apo E were increased even under treatment with 10 mg pravastatin per day. Gel filtration chromatography revealed that in addition to VLDL and LDL fractions, she had apo A-II rich and apo E rich fractions, which were present in the HDL fraction separated by ultracentrifugation. A cytosine deletion was identified by genomic dna sequencing of the apo A-I gene of the patient at the third base of codon 184 in the fourth exon, which led to a frame shift mutation and early termination at codon 200. This patient is the oldest among those with apo A-I deficiency reported in the literature, and she had no symptoms of CHD despite the accumulated risk for the disease. ( info) |
4/32. Continuous insulin infusion: promoting growth in low birth weight infants. Development of improved technologies in neonatal care has yielded increasing numbers of surviving low birth weight (LBW) infants who have challenged methods of supportive care. As researchers and practitioners have focused on respiratory, cardiac, and other body system requirements, nutritional support has been low on the priority list. Support for growth and maximized neurologic development, rather than simply for survival, has been the challenge in care of small and sick newborns. Use of insulin to enhance glucose tolerance in LBW infants, and thereby maximize growth, is a management modality that can be initiated early in the infant's course and is facilitated by implementation of clear and consistent policies and procedures. Continuous insulin infusions have been demonstrated to enhance glucose uptake and utilization--facilitating neonatal growth and in turn enhancing brain growth and developmental outcome. ( info) |
5/32. Diffuse diabetic glomerulosclerosis in a patient with impaired glucose tolerance: report on a patient who later develops diabetes mellitus. Diabetic glomerulosclerosis might be seen in diabetics but its presence in patients with impaired glucose tolerance is quite rare. A 31-year-old woman who was admitted to our department was diagnosed with hypertension, nephrotic syndrome and impaired glucose tolerance. Her renal biopsy was compatible with diabetic glomerulosclerosis. She developed overt diabetes mellitus (DM) after one year of impaired glucose tolerance. hypertension might have accelerated the progression of diabetic nephropathy. ( info) |
| The symptoms of thyrotoxicosis and diabetes mellitus can be quite similar, and in patients presenting with diabetes, thyrotoxicosis could be missed unless specifically tested for. There are few reports of the two conditions presenting at the same time. We report on two such cases. In a patient who is diagnosed as having both conditions concurrently, an oral glucose tolerance test should be repeated after successful treatment of thyrotoxicosis before a diagnosis of diabetes mellitus is made. ( info) |
7/32. A case showing an association between type 1 diabetes mellitus and Kabuki syndrome. The case of a 31-year-old female suffering from type 1 diabetes mellitus (DM) and Kabuki syndrome is presented. The patient was diagnosed as having impaired glucose tolerance (IGT) at age 18; secondary amenorrhea occurred at age 20, following acute body weight loss. Extensive examination revealed the patient to have a slowly progressive form of type 1 DM and, based on the physical findings, including her facial features, she was diagnosed as also having congenital Kabuki syndrome. Since then, this patient has experienced several episodes of diabetic ketoacidosis, all of which were brought about by prolonged bronchial infection. Although it is perhaps reasonable at present to consider this case to represent a chance association, further clinical investigations will be carried out to clarify whether or not Kabuki syndrome and type 1 DM have any common pathogenic features. ( info) |
8/32. Clinical features and metabolic derangements in acquired generalized lipodystrophy: case reports and review of the literature. We present clinical descriptions, metabolic features, and patterns of body fat loss of 16 patients with acquired generalized lipodystrophy (AGL) seen by us over the last 10 years. In addition, we review 63 cases of AGL reported in the literature. Based on these data, we propose new diagnostic criteria for AGL, the essential criterion being selective loss of body fat from large regions of the body occurring after birth. We also propose a subclassification of AGL into 3 varieties, type 1, the panniculitis variety; type 2, the autoimmune disease variety; and type 3, the idiopathic variety, which affect nearly 25%, 25%, and 50% of patients, respectively. Most of the patients presented in childhood and adolescence. Females were affected approximately 3 times more than males. subcutaneous fat loss was severe and usually affected the face, trunk, abdomen, and extremities. In some patients, fat loss also involved the palms and soles and intraabdominal region; however, the bone marrow and retroorbital fat were preserved in all patients. Clinically, patients may have voracious appetite, fatigue, and acanthosis nigricans. hepatomegaly was common, mostly due to hepatic steatosis. Most AGL patients had fasting and/or postprandial hyperinsulinemia, diabetes mellitus, hypertriglyceridemia, and low serum levels of high-density lipoprotein cholesterol, leptin, and adiponectin. diabetes mellitus and hypertriglyceridemia were less prevalent in the panniculitis variety compared with the idiopathic and autoimmune varieties. The management of AGL includes cosmetic surgery for loss of fat. Severe hypertriglyceridemia should be treated with a very low-fat diet and omega-3 polyunsaturated fatty acid supplementation from fish oils. Management of diabetes is difficult and may necessitate insulin therapy in large doses. Insulin sensitizers such as metformin and thiazolidinediones have been used, although their long-term efficacy and safety remain unknown. Subcutaneous administration of recombinant leptin in AGL patients with hypoleptinemia effectively improves hyperglycemia, hypertriglyceridemia, and hepatic steatosis. leptin therapy, however, remains investigational. Fibrates alone or in combination with statins may be used to treat hypertriglyceridemia. ( info) |
9/32. insulin resistance complicating pregnancy in a human immunodeficiency virus-infected patient treated with protease inhibitors and corticosteroids. BACKGROUND: Protease inhibitor therapy in human immunodeficiency virus (hiv)-infected adults has been associated with onset or aggravation of glucose intolerance. We report a case of a pregnant hiv-infected woman receiving highly active antiretroviral therapy who developed acute onset of severe insulin resistance during treatment for preterm labor. CASE: A 26-year-old multigravida with hiv infection treated with highly active antiretroviral therapy presented in preterm labor. During treatment, including corticosteroids for fetal lung maturity, severe hyperglycemia and ketonemia suggestive of diabetic ketoacidosis were detected. Aggressive intravenous fluid and insulin therapy was necessary to correct hyperglycemia. CONCLUSION: We found that hiv-positive pregnant women receiving highly active antiretroviral therapy may be at increased risk for development of glucose intolerance. The use of medications that impair glucose tolerance, for example, corticosteroids, may have a synergistic effect in aggravating insulin resistance. Additional screening for glucose intolerance later in the third trimester should be considered in these patients. ( info) |
10/32. Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: report of 35 cases and review of the literature. We describe clinical features, body fat distribution, and prevalence of metabolic abnormalities in 35 patients with acquired partial lipodystrophy (APL) seen by us over 8 years, and also review 220 cases of APL described in the literature. Based on the review and our experience, we propose that the essential diagnostic criterion for APL is the gradual onset of bilaterally symmetrical loss of subcutaneous fat from the face, neck, upper extremities, thorax, and abdomen, in the "cephalocaudal" sequence, sparing the lower extremities. Analysis of the pooled data revealed that female patients were affected approximately 4 times more often than males. The median age of the onset of lipodystrophy was 7 years. Several autoimmune diseases, in particular systemic lupus erythematosus and dermatomyositis, were associated with APL. The prevalence rates of diabetes mellitus and impaired glucose tolerance were 6.7% and 8.9%, respectively. Approximately 83% of APL patients had low complement (C) 3 levels and the presence of polyclonal immunoglobulin C3 nephritic factor. Twenty-two percent of patients developed membranoproliferative glomerulonephritis (MPGN) after a median of approximately 8 years following the onset of lipodystrophy. Compared with patients without renal disease, those with MPGN had earlier age of onset of lipodystrophy (12.6 /- 10.3 yr vs 7.7 /- 4.4 yr, respectively; p < 0.001) and a higher prevalence of C3 hypocomplementemia (78% vs 95%, respectively; p = 0.02). The pathogenesis of fat loss and MPGN in patients with APL remains unclear, but activation of an alternate complement pathway has been implicated. Treating the cosmetic disfigurement by surgical procedures has yielded inconsistent results. The use of thiazolidinediones to treat fat loss in patients with APL remains anecdotal. prognosis is mainly determined by renal insufficiency due to MPGN. ( info) |