Background: Febrile seizures are seizures that occur in children between  6 months and 60 months of age , with body temperature of 38ºC or higher not resulting from Central Nervous System (CNS) infection or any metabolic imbalance without any prior afebrile seizures. Among many risk factors identified for febrile seizures, iron deficiency is hypothesized to be one of the risk factor for occurrence of febrile seizures.Methods: A total of 100 children aged between 6 months to 5 years were included in the present study and were  further divided into 2 groups of 50 each, as cases and controls. Control group consisted of age and gender matched children admitted with acute febrile illness without seizures. A detailed history was taken and clinical examination was done in both cases and controls with particular attention to development delay and family history of seizure. Complete haemogram, iron profile and other appropriate investigations were done in both the groups and results were compared.Results: The mean age of onset of febrile seizures was 32 months. There was slightly male predominance, with male: female ratio of 1.27:1. Majority of children with febrile seizures were found to have iron deficiency anemia as opposed to children in control group which was statistically significant. (76% vs 28%), p-value<0.001. All the indices of iron deficiency anemia, like haemoglobin, MCV, MCH, serum iron, serum ferritin were low in febrile seizures group compared to control group. The difference was found to be statistically significant (p-value<0.001).Conclusions: Iron deficiency anemia (IDA) was more frequent among children with febrile seizures. The result suggests that IDA may be a risk factor for febrile seizures. Early detection and timely correction of iron deficiency may be of help for prevention of recurrence of febrile seizures in children of this age group.

Objective: To identify the aetiology of children presenting with fever of unknown origin (FUO). were included. All children were subjected to detailed history, clinical examination and baseline investigations. Further investigations were done based on the presumptive diagnosis Results: Of the 3656 children admitted to the paediatric ward for various diseases during the study period, 24 fulfilled the inclusion criteria. Children between 12-18 years constituted the majority. Infections were the commonest cause of FUO (70.8%). Among them tuberculosis was the commonest (n=11). Mortality was 8.3% Conclusions:In our study, infections were the cause of FUO in 70.8% and tuberculosis was the commonest infectious cause.with fever documented by a health care provider for which a cause could not be identified after three weeks of evaluation as an outpatient or after one week of evaluation in a hospital 2 .

Objective: To establish the possible aetiology of febrile children presenting with thrombocytopenia.

Background: Wilson disease (WD) is a rare autosomal recessive disorder characterized by the accumulation of copper in the liver, brain, cornea, and kidneys. Asymptomatic nature of disease at earlier stages leads to diagnostic enigma. Objective: The objective of this study was to study the clinical, biochemical, and histological profile of WD in children between 1 and 12 years of age. Methodology: It was a hospital-based descriptive study. All children between 1 and 12 years of age who were admitted with symptoms of liver disease and neuropsychiatric symptoms were screened for WD. Low serum ceruloplasmin (<20 mg/dl) and presence of Kayser–Fleischer rings in cornea were the parameters for diagnosis of WD in the study. Clinical and laboratory data were collected from 32 children diagnosed with WD. Evaluation included detailed history and physical examination, ultrasound abdomen, upper endoscopy, laboratory examination, and liver biopsy. Results: The mean age of presentation was 9.2 years. Hepatic manifestations (53%) were the main presentation followed by neurologic (25%) and hepatocerebral (18.7%) manifestations. Predominant symptom was jaundice in 64.7% of children with hepatic manifestations. Speech disturbance was found to be the most common symptom in neurologic presentation. Ultrasound abdomen showed features of portal hypertension in 11 (34.7%) children. Different grades of esophageal varices were noted in 13 (40.5%) children. Histopathology of biopsied samples showed evidence of cirrhosis in 18 (56.2%) children and features of chronic active hepatitis in 14 (43.7%) children. Conclusion: Diagnosis of WD in children is obscure and this may invariably decelerate the diagnosis and prognosis of this malady. Therefore, children presenting with any form of liver disease and/or neuropsychiatric features, WD must be suspected and further investigations should be carried out.

Alymphoid cystic thymic dysgenesis is a severe combined immunodeficiency (SCID) syndrome caused b y   a   mutation   in fork head box N1 gene (FOXN1) on chromosome 17. It is a transcriptional factor regulating the development, differentiation and function of thymic epithelial cells; maintaining T-lineage progenitors in bone marrow; promoting terminal differentiation of epithelial cells of hair follicles. Mutation in FOXN1 is known to cause a rare disorder characterized by rudimentary thymus gland (primary lymphoid organ for T-cell differentiation), T-cell immunodeficiency, congenital alopecia totalis and nail dystrophy. Here we report two affected siblings from a non-consanguineous family with similar features of alopecia totalis, nail dystrophy and failure to thrive. The first child was a 7-month-old female baby, with history of two hospitalization in the past for lower respiratory tract infection, had left axillary lymphadenopathy (BCG adenitis), alopecia totalis, nail dystrophy and hepatosplenomegaly. Bronchoalveolar lavage secretion was positive for Mycobacterium tuberculosis and Pneumocystis carinii pneumonia by gene Xpert and polymerase chain reaction respectively. Immunodeficiency panel workup revealed combined T cell and B cell immunodeficiency, genetic analysis by whole exome sequencing revealed   recessive missense mutation in exon 6 of FOXN1 gene on chromosome 17. Due to lack of sufficient literature it was reported as variant of unknown significance and to establish its clinical significance the carrier status of both the parents was established. Second child presented to us at 3 months of age, also had similar phenotypic features and on evaluation had very low lymphocyte subset count however mutational analysis could not be done in this child due to parent’s denial. Hence, we conclude this child also was affected.