Aim: Kawasaki disease (KD) is a medium vessel vasculitis of childhood. In infancy KD is often characterized by incomplete and atypical forms. There is paucity of literature on KD in children below 6 months and there are no data from any developing country. This study defines the profile of children with KD below 6 months at our centre.Methods: During January 1994 to March 2015, 460 children were diagnosed with KD and 17 (3.6%) were below 6 months. Diagnosis was based on American Heart Association (AHA) criteria. All children were treated with intravenous immunoglobulin and aspirin; three also received infliximab.Results: Mucosal changes were present in 11 patients (64%); extremity changes in 11 (64%); rash in nine (53%); conjunctival injection in eight (47%); and cervical lymphadenopathy in three (17%). Irritability was noted in 15 patients (88%); four (23%) had respiratory symptoms; and two (11%) had bacille Calmette-Guerin scar reactivation. Fifteen (88%) had incomplete KD. Twelve patients were diagnosed beyond day 10 of illness. Thrombocytopenia was seen in four. Coronary artery abnormalities were present in six (35%) patients. Two children died from disease-related complications -one of these had giant coronary artery aneurysms. Conclusion:Our data show that incomplete forms of KD are commonly seen in children below 6 months of age, thereby resulting in delayed diagnoses. Pediatricians need to have a high index of suspicion of KD when dealing with a young infant with unexplained fever beyond 5 days. The AHA criteria appear to be inadequate for diagnosing KD in infants below 6 months.

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Chronic granulomatous disease (CGD) results from an inherited defect in the phagocytic cells of the immune system. It is a genetically heterogenous disease caused by defects in one of the five major subunits of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. There is a paucity of data from India on CGD. We herein describe the clinical features in 17 children with CGD from a single tertiary referral center in India. A detailed analysis of the clinical features, laboratory investigations and outcome of 17 children 7 with X-linked (XL) and 10 with autosomal recessive (AR) form was performed. Diagnosis of CGD was based on an abnormal granulocyte oxidative burst evaluated by either Nitroblue Tetrazolium (NBT) test or flow cytometry based Dihyrorhodamine 123 assay or both. The molecular diagnosis was confirmed by genetic mutation analysis in 13 cases. The mean age at diagnosis and the age at onset of symptoms was significantly lower in children diagnosed with XL- CGD compared those with AR disease. Mutations were detected in CYBB gene in 6 patients with XL-CGD and NCF-1 gene mutations were observed in 7 cases of AR- CGD. The course and outcome of the disease was much worse in children diagnosed with X-linked form of disease compared to AR forms of the disease; 4/7 (57%) children with X-CGD were dead at the time of data analysis. This is one of the largest series on chronic granulomatous disease from any developing country.

Increasing incidence of KD in Chandigarh could be due to increasing clinical recognition as a result of greater awareness among paediatricians in the city, or may represent an actual increase in numbers. Striking differences from KD series reported from other countries include the older median age of our patients, low rate of CAA and a different bimodal seasonality, which may be epidemiologic clues to the nature of this vasculitis.

X-linked agammaglobulinemia (XLA) is one of the commonest primary immune deficiencies encountered in pediatric clinical practice. In adults, common variable immunodeficiency (CVID) is the most common primary immunodeficiency disease (PID). It is an X-linked disorder characterized by increased susceptibility to encapsulated bacteria, severe hypergammaglobulinemia and absent circulating B cells in the peripheral blood. Replacement immunoglobulin therapy is the main cornerstone of treatment. Aggressive management of intercurrent infections and prophylactic antimicrobials are needed. This review attempts to highlight varied clinical manifestations and management of XLA, especially in the context of developing country.

Venous and arterial thrombotic complications can occur in children with nephrotic syndrome. A high index of suspicion is required as the clinical features may be subtle. Neuroimaging and angiographic techniques help in confirming diagnosis. Early aggressive heparin therapy followed by oral anticoagulants is necessary for a favorable outcome.

Kawasaki disease (KD) has replaced acute rheumatic fever as the most common cause of acquired heart disease in children in the developed world and is increasingly being recognized from several developing countries. It is a systemic vasculitis with a predilection for coronary arteries. The diagnosis is based on a constellation of clinical findings that appear in a temporal sequence. Quite understandably, this can become a problem in situations wherein the clinical features are not typical. In such situations, it can be very difficult, if not impossible, to arrive at a diagnosis. Several biomarkers have been recognized in children with acute KD but none of these has reasonably high sensitivity and specificity in predicting the course of the illness. A line up of inflammatory, proteomic, gene expression and micro-RNA based biomarkers has been studied in association with KD. The commonly used inflammatory markers e.g. erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), and total leucocyte counts (TLC) lack specificity for KD. Proteomic studies are based on the identification of specific proteins in serum, plasma and urine by gel electrophoresis. A host of genetic studies have identified genes associated with KD and some of these genes can predict the course and coronary outcomes in the affected individuals. Most of these tests are in the early stages of their development and some of these can predict the course, propensity to develop coronary artery sequelae, intravenous immunoglobulin (IVIg) resistance and the severity of the illness in a patient. Development of clinical criteria based on these tests will improve our diagnostic acumen and aid in early identification and prevention of cardiovascular complications.

Objectives: Kawasaki disease (KD) is a multisystemic vasculitis with predominant mucocutaneous manifestations. Pulmonary involvement in KD is distinctly uncommon and is not commonly recognized. We describe our experience of managing children with KD wherein the initial presentation was predominantly pulmonary. Results: Of 602 children, 11 (1.83%) had a predominant pulmonary presentation of KD.Mean age at diagnosis of KD was 2.5 years. Fever, cough and respiratory distress were the presenting complaints in all patients. First sign of KD was noted at a mean duration of 14.5 days from the onset of symptoms. Periungual desquamation was the most common clinical sign (72.7%). Persistent fever in spite of antimicrobials, thrombocytosis, and elevated erythrocyte sedimentation rate and C-reactive protein levels pointed toward a diagnosis of KD in our patients. Parenchymal consolidation was evident on chest X-ray in all patients, pleural effusion in six, empyema in three, and pneumothorax in two patients. Coronary artery abnormalities were evident in three patients. Intravenous immunoglobulin was given after a mean period of 22.4 days of onset of fever. Conclusions:The diagnosis of KD is often delayed in children who have a predominantly pulmonary presentation. This can have adverse clinical consequences. K E Y W O R D Scoronary artery abnormalities, intravenous immunoglobulin, Kawasaki disease, pneumonia