A rare case of Crigler-Najjar syndrome type 2: A case report and literature review.

Key Clinical Message: Crigler-Najjar syndrome type 2 should be suspected in any young patient presenting with isolated indirect hyperbilirubinemia where all other common etiologies have been excluded. It is a relatively benign condition that responds to phenobarbitone. Abstract: Crigler-Najjar syndrome (CNS) type 2 is an inborn cause of isolated indirect hyperbilirubinemia characterized by a partial deficiency of the enzyme uridine 5'-diphosphate-glucuronosyltransferase (UGT) responsible for bilirubin conjugation. Typically, this condition is diagnosed based on clinical manifestations, supplemented by enzyme analysis if feasible, and exhibits a significant response to phenobarbitone, known for its enzyme-inducing properties. In this case, we present a young male patient who had experienced recurrent isolated indirect hyperbilirubinemia since early childhood, with negative results in the hemolytic workup. The patient exhibited a UGT1A1 gene defect and demonstrated a highly favorable response to phenobarbitone treatment. The purpose of this report is to raise awareness among physicians about this benign condition and underscore the importance of avoiding unnecessary investigations.

Subclinical right ventricular dysfunction in patients with asymptomatic type 2 diabetes mellitus: A cross-sectional study.

BACKGROUND: Diabetic cardiomyopathy, which involves both the right and left ventricles, progresses from a preclinical stage to overt heart failure. Detection of this entity at a preclinical stage could be crucial in intervening to halt its progression to overt heart failure. There is a paucity of literature on subclinical RV dysfunction in diabetic patients, and it is even rarer in the Indian literature. Our study intended to study this clinical entity through an echocardiographic assessment of asymptomatic patients. OBJECTIVES: This was a cross-sectional observational analytic study, comparing subclinical RV dysfunction in diabetic and non-diabetic subjects by using echocardiography as a primary objective, while the secondary objective of the study was to find out the correlation between RV dysfunction and the duration of diabetes mellitus and HbA1C levels. METHODS: Conventional echocardiography with tissue Doppler imaging (TDI) was used to measure nine different echocardiographic parameters in the diabetic and non-diabetic groups. All probable causes of RV dysfunction were excluded before enrolling the patients in the study. Unpaired t-test was used to compare the parameters between the two groups, and multivariate regression analysis was done taking into consideration age, duration of diabetes, and HbA1C levels as the independent variables, and echocardiographic parameters as the dependent variables. RESULTS: Out of the nine different echocardiographic parameters, Tricuspid annular plane systolic excursion (TAPSE), RV end diastolic diameter (RVEDD), Tricuspid peak late diastolic velocity (A), E/A ratio, RV basal segment peak myocardial systolic velocity (Sm), RV basal segment peak early diastolic velocity (Em), RV basal segment peak late diastolic velocity (Am), and E/Em ratio showed statistically significant differences between the two groups. These results show the presence of subclinical RV dysfunction in diabetic patients. TAPSE and E/A ratio showed a significant correlation with the duration of diabetes, while Em showed a significant correlation with HbA1C. CONCLUSION: Diabetes mellitus is associated with subclinical systolic as well as diastolic RV dysfunction. In addition to helping identify people at high risk, the early recognition of RV dysfunction gives us a window of opportunity to take action and slow down the disease's course. This study emphasizes that the early identification of RV diastolic as well as systolic dysfunction in asymptomatic Type 2 diabetic patients can be a helpful tool in halting the progression of disease from subclinical to frank clinical cases, thereby preventing the morbidity and mortality associated with heart failure. Hence, it adds value to the pre-existing literature.

Kimura disease: A rare cause of painless lymphadenopathy in South Asia.

Kimura disease is an uncommon disease entity that typically involves the lymph nodes predominantly in the head and neck region together with frequent involvement of salivary glands. Very few cases of it have been reported in literature globally, and in the context of India, it is even rare. Early suspicion of Kimura disease may prevent the patient from unnecessary invasive diagnostic tests. We present a case scenario of a 35 years old female, from a hilly area who presented with painless neck swelling for 3 months that was followed by fever, new onset pain at the site of neck swelling, and skin rashes. Diagnosis of Kimura disease was made based on histopathological findings aided by peripheral eosinophilia and elevated serum Immunoglobulin E (IgE) levels. Following the diagnosis, the patient was treated with a short course of oral steroids which produced an excellent response with a consequent decrease in the size of lymph nodes and resolution of the skin rashes.

Bilateral Upper Limb Symmetrical Digital Gangrene: A Rare Presentation of Anti-Phospholipid Syndrome.

Antiphospholipid syndrome (APS) is an autoimmune disease present most commonly in young women, characterized by the presence of antibodies against various phospholipids and culminating in alteration of the flow of blood, leading to arterial and venous thrombosis. Although it can present with a wide range of manifestations, digital gangrene is one of the important ones. We present a case of a young female with antiphospholipid syndrome who presented with acute onset bilateral upper limb symmetrical digital gangrene with prior history of multiple fetal losses. Acute onset, symmetrical gangrene, limited to the bilateral upper limbs without venous system involvement, that too in association with systemic lupus erythematosus (SLE) which does not usually manifest as such make this case a unique and interesting one.

Prolonged asymptomatic venom induced consumption coagulopathy: Caused by hemotoxic snake bite.

Envenoming and deaths resulting from snake bite are a particularly important public health problem in the tropical world, with the highest burden in rural areas of South East Asia and Africa. Snake bite is one of the most severe "Neglected Tropical Diseases" in the world and more importantly in this part of India. We present a case of hemotoxic snake bite where the coagulation parameters remained deranged for a longer time without any active bleeding manifestations, despite treatment with Anti-Snake Venom (ASV) as per the National Treatment Guidelines. Indian Snake Bite Management Protocol emphasizes on the Role of Whole Blood Clotting Time (WBCT) as a bedside, accessible and feasible test for assessment of coagulopathy even in rural settings. Certain scenarios where the patients present late to our hospital with Snake Bite and Venom Induced Consumption Coagulopathy (VICC), the decision regarding ASV prescription in such patients is quite tricky, and needs to be individualized.