Hypocalcemic Cardiomyopathy and Pseudohypoparathyroidism Due to Severe Vitamin D Deficiency.

Hypocalcemic cardiomyopathy is a rare entity. We describe a patient with severe heart failure, decreased ejection fraction and global hypokinesia documented on echocardiogram, associated with severe hypocalcemia, very low vitamin D status, increased QT intervals, increased BNP (serum brain natriuretic peptide) levels and CPK (creatine phosphokinase) levels. All these defects reversed on treatment with vitamin D and calcium within a few days without any specific cardiac intervention.

Transient neonatal diabetes due to activating mutation in the ABCC8 gene encoding SUR1.

We report a 2 month male child presenting with diabetic ketoacidosis (DKA) and seizures treated with intravenous fluids and intravenous insulin infusion till the ketoacidosis was reversed, thereafter responding well to sulphonylureas and at age of 13 months going into complete remission. At age of 11 months developmental delay in the form of negative neck holding and inability to sit without support was seen. The child is 3 years of age now, euglycemic without any insulin or oral hypoglycemic agents but has severe developmental delay. Genetic analysis was negative for mutations of KCNJ11, 6q24, Glucokinase and IPF-1 genes. A mutation R1183W was found in the ABCC8 gene encoding SUR1, which was the cause of neonatal diabetes in this case.

Correlates of Type 2 diabetes mellitus in children, adolescents and young adults in north India: a multisite collaborative case-control study.

AIMS: In this study we describe the clinical, anthropometric and biochemical characteristics of patients with early onset Type 2 diabetes mellitus (T2DM) (< 30 years of age) and compare them with healthy, non-diabetic individuals. METHODS: In this multisite collaborative study, 51 patients with T2DM (40 male, 11 female) and 69 non-diabetic individuals of similar age and gender distribution (controls) as the cases (46 male and 23 female) were investigated. The following parameters were measured; anthropometry [body mass index (BMI), waist circumference, waist-hip ratio (WHR) and skin-fold thickness at four sites], percentage body fat (%BF) and lipid profile. RESULTS: The mean (SD) age of diagnosis of T2DM was 21.4 (6.1) years. A significantly higher number of cases had a history of T2DM in first-degree relatives as compared with controls (82.3 vs. 23.2%, P < 0.001). The mean values and the prevalence of abnormal values of measures of generalized obesity (BMI and %BF) and abdominal obesity (waist circumference and WHR) were significantly higher in cases as compared with controls. Hypertriglyceridaemia [OR (95% CI): 4.6 (1.1-20.0)], high WHR [7.9 (2.5-24.4)] and family history of T2DM [7.3 (2.3-23.0)] were independently associated with T2DM. Age and gender adjusted odds ratios of T2DM were 23.3 (5.2-103.6), 37.7 (9.0-158.5) and 86.4 (17.0-438.5), respectively, with the following set of risk factors; hypertriglyceridaemia and high WHR, hypertriglyceridaemia and family history of T2DM, and high WHR and family history of T2DM. Finally, the presence of all three risk factors increased the odds of T2DM to 112.1 (10.8-1164.7). CONCLUSIONS: Early identification of the simple clinical, anthropometric and biochemical parameters which are strongly associated with early onset T2DM in young Asian Indians may be useful for primary prevention.