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Introduction: Crigler-Najjar syndrome type 2 (CNS type 2) is a rare disorder that causes elevated levels of bilirubin in the blood (nonhemolytic unconjugated hyperbilirubinemia). The main symptom of CNS type 2 is persistent jaundice. It is caused by genetic changes in the UGT1A1 gene and the inheritance is autosomal recessive. Genetic testing of the UGT1A1 gene for mutations is the diagnostic clincher. We report one such rare case. Case report: A 75-year-old male presented with history of right-sided weakness with right-sided facial weakness, MRI brain revealed an infarct in the left side of brain with general physical findings suggestive of icterus. Conclusion: Diagnosing and managing these patients may be challenging. Our aim is to draw attention of the treating physicians towards this disease with the help of this case report.
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Background: Peripheral neuropathy is one of the most common and debilitating but preventable complications of diabetes mellitus, with significant morbidity as it often leads to foot ulceration and amputation. Therefore, this study was aimed to identify the potential risk factors for diabetic peripheral neuropathy (DPN) which can affect its progression.Methods: This case-control study was conducted on 240 patients with type 2 diabetes mellitus which included 120 patients with clinical evidence of DPN as cases and 120 patients without clinical evidence of DPN as controls. DPN was assessed clinically by neuropathic symptoms and neurological examination using 10 g 5.07 Semmes朩einstein monofilament and vibration digital biothesiometer. Data regarding presence of potential risk factors were collected from all participants and analyzed using logistic regression analysis to measure an association with DPN.Results: A significant and independent association of advancing age, longer duration of diabetes, hyperglycemia, poor glycemic control, autonomic neuropathy and retinopathy with DPN (p<0.05) was observed. Hypertension, dyslipidemia, smoking, gender, body mass index, method of diabetes control and angiotensin converting enzyme inhibitor usage were not found be associated with DPN.Conclusions: Since hyperglycemia and poor glycemic control were only modifiable risk factors for DPN, intensive glycemic control and primary prevention are the cornerstones for reducing the incidence or slowing the progression of neuropathy and improving quality of life in diabetic patients.
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Objective: To assess the prevalence of hypogonadism in Asian-Indian males with type 2 diabetes (T2DM) with reference to clinical feature and total serum testosterone levels. Material and methods: In the cross-sectional study of 50 diabetics of 30-76 years age group preferably without chronic illness, total testosterone, body mass index (BMI) and waist circumference (WC) were measured. Overt hypogonadism was defined as the presence of clinical symptoms of hypogonadism and low testosterone level (total testosterone <8 nmol/l). Borderline hypogonadism was defined as the presence of symptoms and total testosterone of 8-12 nmol/l. Results: A low serum testosterone level was common in diabetic men and a significant proportion of these men had symptoms of hypogonadism. Overt hypogonadism was seen in 30% of men with total testosterone levels <8 nmol/l and borderline hypogonadism was found in 28% of men with total testosterone levels 8-12 nmol/l. Total serum testosterone levels significantly and negatively correlated with both BMI (r = –0.334, p < 0.05) and WC (r = –0.443, p < 0.001), with the association being stronger for WC. HbA1C also significantly and negatively correlated with serum testosterone levels (r = –0.503, p < 0.001). Conclusions: Testosterone levels are frequently low in men with T2DM and the majority of these men have symptoms of hypogonadism, even in the younger age group (early-onset hypogonadism). Obesity and BMI are also associated with low testosterone levels in Asian-Indian diabetic men.