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Very-early-onset IBD and infantile-onset IBD is extremely rare in children. There is paucity of data with regards to clinical profile and outcome of children with infantile-onset IBD from India. The clinicolaboratory profile, molecular genetic testing and treatment details of 8 children diagnosed with monogenic infantile-onset IBD during 2015-2020 is described here. The median age at onset of symptoms was 3 mo. Sibling death and consanguinity were noted in 4 (50%) each respectively. Diarrhea was the presentation in all (100%) and hematochezia in 5 (62%). Colonic ulcers on colonosopy was seen in 7 infants. The common mutation identified was IL-10R gene in 3 (42%) and LRBA gene mutation in 2 (25%). HSCT was done in 4 children and the rest were managed conservatively. Although there was no mortality in this series, two children (25%) were lost for follow-up., (© 2022. Dr. K C Chaudhuri Foundation.)

Objective: To study the clinical profile and outcome of children with Inborn errors of metabolism., Methods: Thirty one newly diagnosed children with Inborn errors of metabolism over a 1 y period were studied for their relevant clinical, biochemical, diagnosis, treatment and follow-up details., Results: Inborn errors of metabolism accounted for 2% of hospital admissions. Sixty five percent were born to parents of consanguineous marriage. Of the 31 children with Inborn errors of metabolism, 16 (51%) had lysosomal storage disorders, 8 (26%) had disorders of amino acid metabolism, 2 (6%) each had disorders of carbohydrate and bile acid metabolism, 1 (3%) each had disorders of fatty acid oxidation, mitochondrial and peroxisome metabolism. Acrodermatitis dysmetabolica, as a complication was observed in one child and the overall mortality rate in this series was 10%., Conclusions: Lysosomal storage disorders constituted the majority of Inborn errors of metabolism in this series and amino acidopathies/organic acidemias were successfully treated with special formulas.

Objective: To correlate the bone mineral parameters [bone mineral content (BMC) and bone mineral density (BMD)] using Dual energy X ray Absorptiometry (DXA) scan with anthropometric measurements and to study the effect of glucocorticoid therapy on BMC/BMD in children with Congenital adrenal hyperplasia (CAH)., Methods: A cross-sectional study was carried out in the Pediatric Endocrinology unit from January 2012 through March 2013 at Kanchi Kamakoti CHILDS Trust hospital, Chennai. Thirteen CAH children aged 0-132 mo with classic salt wasting due to 21 hydroxylase deficiency were included in the study. All children were treated with T.hydrocortisone @10-15 mg/m(2)/d twice daily and T. fludrocortisone 50 μg once daily orally at the time of enrollment into the study. The duration of glucocorticoid (hydrocortisone) treatment from the date of diagnosis till the time of enrollment into the study was noted and categorized as children receiving < 5 and > 5 y of glucocorticoid therapy. None received Vitamin D/calcium supplementation at the time of enrollment. BMC and areal BMD for the lumbar spine and total body less head (TBLH) were measured with Lunar DXA machine., Results: The mean height, weight and BMI of children were 87.3 ± 33 cm, 13.49 ± 11.2 kg and 14 ± 4.07 kg/m(2) respectively. TBLH BMC was 369.14 ± 312.18 g and TBLH BMD was 0.63 ± 0.11 g/cm(2). There was a significant correlation between height and total body less head BMC/BMD in the index series [P < 0.05, significant]. The TBLH and spine BMD were also assessed with regards to the duration of glucocorticoid therapy and it has been observed that TBLH and spine BMD decreased with increased duration of steroid therapy (p < 0.05, significant)., Conclusions: In the absence of normative data or z scores, BMC/BMD correlates well with height for age. Children who received more than 5 y of glucocorticoid treatment had lower TBLH and spine BMD scores and hence, calcium and Vitamin D supplementation should be considered.

Aim: To study the clinical profile and outcome of hospitalized children with typhoid fever., Materials and Methods: A retrospective study was conducted in a private tertiary care children's hospital over a 3 year period., Results: A total of 316 children (7 in every 1000 admissions) were diagnosed to have typhoid fever during this period. More than one third were aged between 5 and 10 years and most cases (38%) clustered around the months of January to April. Around 59% of children in our series were unimmunised against typhoid. Eosinopenia was seen in 72 %. There was a significant increase in NARST (p < 0.001). Predictors of severity in this study were increased AST levels, eosinopenia and isolation of NARST., Conclusion: Public health interventions to minimize human carrier contact, improved personal hygienic measures including health care behavior strategies, typhoid vaccination and rational antibiotic selection based on sensitivity pattern to prevent resistance will help to reduce the morbidity and mortality of this global health problem.

Thiamine responsive megaloblastic anemia syndrome (TRMA) is a clinical triad characterized by thiamine-responsive anemia, diabetes mellitus and sensorineural deafness. We report a 4-year-old girl with TRMA whose anemia improved following administration of thiamine and this case report sensitizes the early diagnosis and treatment with thiamine in children presenting with anemia, diabetes and deafness.

Richner Hanhart syndrome is a rare inherited disorder involving the metabolism of tyrosine, a semi-essential amino acid and it should be considered in the differential diagnosis of a child presenting with ocular and skin lesions. We report a case of Richner Hanhart syndrome in a 19-month-old child, who presented with ocular and skin lesions.