Introduction: Niemann-Pick Disease (NPD) is an autosomal recessive disorder, characterized mainly by the accumulation of lipids, mostly sphingomyelin and cholesterol, in different organs

Juvenile systemic lupus erythematosus is an autoimmune disorder characterized by inflammatory damage to joints, kidney, central nervous system, and hematopoietic system in the form of fever, cutaneous lesion including skin rash, arthritis, anemia, and fatigue. We report a case in which the patient had features mimicking idiopathic thrombocytopenic purpura and juvenile dermatomyositis, but on a detailed Hematological investigation and kidney biopsy patient was diagnosed as juvenile SLE.

Background: (1) To study FSH, LH and Estrogen levels and it's correlation with Serum Ferritin levels in Female Beta Thalassemia Major patients. (2) To study the correlation of these hormones and SMR with Serum Ferritin. (3) To compare these hormone levels and SMR of Patients with Controls. Study Design: It was a cross-sectional case control study done in a tertiary care centre in a large Metropolitan city over a period of 2 years. Methods: The study was approved by the Institutional ethical committee. The patients attending the Emergency, in-patient and outpatient Departments of Pediatrics Division of our institute were enrolled for the study as per the criteria given. It was a cross-sectional case control study done in patients who had already been diagnosed with beta thalassemia major (cases) and healthy girls (controls). The demographic data, ferritin levels, chelation therapy, SMR staging and hormonal essays of FSH, LH, estrogen and their correlation with blood transfusions and serum ferritin levels was studied. Also the hormone levels and SMR staging of patients with thalassemia major were compared with control group. Results: 56 girls having beta thalassemia major (cases) and 50 healthy girls not suffering from any ailments as (controls) per inclusion and exclusion criterion were enrolled in this study. Estimation of FSH in test and control subjects revealed that The difference was not significant in the age group of 8-12 years (P=0.323). The FSH values of cases >12 years were significantly lower than those of controls (P<0.001). Estimation of oestrogen and LH revealed that these values were significantly lower in Thalassemics as compared to non thalassemics in both age groups (P<0.001). 0% Cases and 26.3% Controls had attained Menarche in the age group of 8-12 years whereas 11.4% Cases and 93.3% Controls in the age group of >12 years had attained Menarche . In our study the mean age of attainment of menarche was 14.5 in thalassemics and 11.5 in non thalassemics. The differece was found to be very highly significant (P<0.001). The association of serum ferritin and FSH, LH and oestrogen levels revealed that a statistically significant association was found in between Sr ferritin and FSH (P=0.015) and oestrogen (0.008). While for LH the difference was insignificant (P=0.174). Association of FSH,LH and oestrogen with duration of chelation therapy showed that there was no significant difference in between FSH,LH and oestrogen levels with respect to duration of chelation therapy. Conclusion: Our study concluded that Delayed growth and Puberty is a common complication of beta thalassemia major. Regular chelation therapy reduces serum ferritin levels and improves FSH, LH and estrogen levels.

We report a 10 year old boy presenting with bilateral hydronephrosis and peculiar facial expression suggestive of Ochoa Syndrome or Urofacial syndrome. He had chronic renal failure which was managed conservatively.

Background: Dengue is the most rapidly spreading mosquito-borne viral disease in the World. The spectrum of manifestations includes mild fever to severe and life-threatening disease, though uncommon complications such as myocarditis have also been reported in many cases. We conducted this study to analyze association between Clinical Profile, Cardiac Functions and Troponin I and CPK-MB (cardiac biochemical markers) in children with Dengue Fever. Aims and objectives of the study was the association between Clinical Profile, Cardiac Functions and Troponin I and CPK-MB (cardiac biochemical markers) in children with Dengue Fever.Methods: This was a prospective observational study in which 80 paediatric patients who were hospitalized anddiagnosed to be having Dengue fever were included. All patients were stratified into either of the 3 groups- Dengue without warning signs, Dengue with warning signs and severe Dengue. A detailed history and thorough clinical examination were done for all patients. A complete blood count, electrolytes, hepatic and renal function tests were done in all children. Cardiac function was assessed by 2D Echo, CPK-MB and Troponin-I, p value less than 0.05 was taken as statistically significant.Results: Of the 80 studied cases there were 53 (66.25%) males and 27 (33.75%) females with a M:F ratio of 1.9:1. Dengue with and without warning signs was seen in 27.5% and 60% cases respectively whereas severe dengue was seen in 12.5% cases. The ejection fraction was comparable across the 3 groups. On 2D echo ejection fraction was 62.95%, 63.21% and 65.1% in cases with warning signs, without warning signs and severe dengue respectively. Additionally, ECG abnormalities were seen in 8.75% patients. All 80 patients had a normal CPK-MB and Troponin-I levels.Conclusions: Cardiac markers (CPK-MB and Troponin-I) remain unaffected during Dengue illness and do not have significant correlation between Dengue without warning signs, Dengue with warning signs and severe Dengue.