Indian Journal of Child Health 2021-04-02T09:29:19+0530 Dr. Girish Chandra Bhatt Open Journal Systems <pre><strong>ISSN:</strong> <strong>p-ISSN</strong> - 2349-6118; <strong>e-ISSN</strong> - 2349-6126 <br /><strong>Discipline:</strong> Pediatrics and Neonatology<br /><strong>Starting Year:</strong> 2014<br /><strong>Current volume:</strong> Volume 7<br /><strong>Issue per year:</strong> 12 (monthly)<br /><strong>Editor-in-chief:</strong> Dr. Girish Chandra Bhatt, India<br /><strong>Indexing:</strong> Index Copernicus, EZB, BASE, World Cat, Journal Guide, Google Scholar<br /><strong>E-mail: <a href="" target="_blank" rel="noopener"></a> </strong></pre> Siblings with congenital ichthyosis – A case report 2021-03-18T11:45:49+0530 Vinaya Ajaykumar Singh Ravi Toka Poonam Wade Sushma Malik <p>Ichthyosis is a disorder of cornification characterized clinically by patterns of scaling and histopathological features of hyperkeratosis. Harlequin ichthyosis (HI) is caused by mutations in the ABCA12 gene which is responsible for the development of a normal skin barrier. Babies with HI have characteristic clinical features such as markedly thickened, cracked, and ridged skin forming horny armor-like plates over the entire body. This causes facial disfigurement in form of ectropion, chemosis of orbits, and fish-like mouth flat nose crumbled ears. Limb joints become fixed, digits are constricted, nails and hair may be absent. Affected patients have high morbidity and mortality due to respiratory difficulty, poor feeding, and skin infections</p> 2021-04-02T00:00:00+0530 Copyright (c) 2021 Hepatitis: An emerging presentation in child with coronavirus disease 2019 2021-03-24T09:09:28+0530 Viswanathan Varun Save Sushma Sawant Vishal S Kondekar Alpana <p>Severe acute respiratory syndrome coronavirus 2 is an enveloped RNA beta?coronavirus related to the severe acute respiratory syndrome virus and has varied clinical manifestations, commonly involving the respiratory system. Gastrointestinal symptoms with/without respiratory symptoms are increasingly reported. The liver function elevation is usually mild in coronavirus disease 2019 (COVID?19) disease and usually recovers without treatment. However, severe liver injury has been reported in adult studies. Liver injury is emerging as a clinically important consequence of COVID?19. We report a case of a child who presented with fever and acute abdomen in acute liver failure and was tested positive for COVID?19 reverse transcriptase?polymerase chain reaction and was successfully managed without any complications. This rare presentation with acute abdomen should raise the suspicion of COVID?19 and teaches us to develop a broader approach in this evolving pandemic.</p> 2021-04-02T00:00:00+0530 Copyright (c) 2021 Next-generation sequencing in children of West India with suspected inherited tubulopathies 2021-03-18T17:40:48+0530 Anshuman Saha Kinnari B Vala Himanshu V Patel <p>Background: The renal tubules maintain homeostasis through an array of proteins coded by multiple genes, which directly or indirectly transport water and solutes in the tubules. Malfunction of these transport proteins leads to inherited tubulopathies. Objective: The objective of the study was to analyze the clinical utility of next-generation sequencing (NGS) in the diagnosis and management of children with tubulopathies. Materials and Methods: This retrospective study was conducted in a tertiary care nephrology center in West India between September 2016 and September 2020. All children ?18 years with suspected inherited tubulopathy, where an NGS was sent, were included. Clinical exome sequencing (CES) covering 6670 genes was done in 14 children. CES included 73 tubulopathy genes. The test result was interpreted as per American College of Medical Genetics classification: No pathogenic variant, variant of unknown significance (VUS), and likely pathogenic and pathogenic variant. Results: The median age (IQR) of the cohort at the onset of disease was 18 months (4–65). History of consanguinity was present in 2 children (14.2%). Five children (35.7%) had Fanconi syndrome, two had distal renal tubular acidosis (d-RTA), two had Bartter/Gitelman syndrome, two had rickets, two had nephrocalcinosis, and one had low-molecular-weight proteinuria. Nine children (64%) had pathogenic variants detected in eight genes: ATP6V0A4, CTNS1, FAH1, PHEX, SLC12A1, SLC4A1, SLCA2, and CLDN 16. Five (35.7%) were novel variants. Two children had three VUS in FAT1, EYA1, and KCNJ1 gene. Three children (21.4%) had no genetic variant. Bartter syndrome type 1 and d-RTA were the most common genetic diagnoses with two patients each. Other diagnoses were tyrosinemia type 1, nephropathic cystinosis, Fanconi Bickel syndrome, X-linked hypophosphatemic rickets, and familial hypomagnesemia, hypercalciuria, and nephrocalcinosis in one each. Conclusion: The yield of NGS in children with tubulopathy was remarkably high. NGS was useful in the diagnosis and management in these children.</p> 2021-04-02T00:00:00+0530 Copyright (c) 2021 A study about effect of hydroxyurea on scholastic performance of children with sickle cell anemia 2021-03-22T16:50:00+0530 Nimisha Joshi Nilesh Jain Jain Pramila Ramawat Jain <p>Background: Sickle cell anemia (SCA) is the most common hemoglobinopathy affecting the population worldwide, is associated with high morbidity and mortality. Treatment with hydroxyurea (HU) has shown promising results by improving the clinical profile of patients. However, its effect on scholastic performance of children is yet to be explored. Objective: The objective of the study was to evaluate the effect of HU on scholastic performance in children affected with SCA. Methods: A prospective analytical study was conducted among 73 SCA patients between the ages of 5 and 14 years hospitalized or visiting the outpatient department at a tertiary care center on Central India. A fixed low dose of HU (20 mg/kg/day) was prescribed to individual patients at the start of the study. Patients were followed up for a period of 6 months at an interval of 2 months. Scholastic performance was evaluated based on school attendance and examination grades of child and was compared with results of previous year. Results: Only 54/73 patients successfully completed the study, among them 51.8% were male. Vaso-occlusive crisis (VOC) was the most common indication for initiating HU therapy. After 6 months of active therapy, significant improvement in scholastic performance was observed. Improvement in mean attendance from 63.98% to 68.09% was observed (p&lt;0.05). Similarly, improvement in study grades was observed in 33.3% (p=0.001). No adverse reaction due to HU was noticed during study period. Conclusion: HU is a safe and an effective drug which can be used to prevent VOC in SCA patients. Apart from this, it also improves the scholastic performance in these children.</p> 2021-04-02T00:00:00+0530 Copyright (c) 2021 Simple febrile seizures in toddlers: Do they have low serum calcium levels? 2021-03-22T15:12:09+0530 Sudhanshu Tiwari K M Adhikari Sandeep Dhingra <p>Objective: The objective of the study was to study the serum calcium levels at presentation in two subgroups of febrile toddlers; one with and the other without febrile seizures. Materials and Methods: This observational, cross-sectional study was conducted in a tertiary care center. The mean serum calcium level was compared at presentation between the two subgroups of febrile toddlers; one group with and the other without febrile seizures during the presentation for current illness. Based on a previous study of micronutrients in febrile seizures and a pilot study from our center, a sample size of 35 toddlers in each group was included in the study. Main outcome measure was to see the number of children with serum calcium less than 9 mg/dl in each group and compare the proportions for any significant difference. Results: Serum calcium levels of less than 9 mg% was seen in 13 (37.1%) toddlers who presented with febrile seizures compared to the group of febrile toddlers without seizures 7 (20%). The difference was statistically significant (p&lt;0.001). Conclusion: Our study noted a significant proportion of low serum calcium levels of less than 9 mg/dl in patients presenting with febrile convulsions when compared to controls.</p> 2021-04-02T00:00:00+0530 Copyright (c) 2021 Assessment of the efficacy of 400 IU of oral Vitamin D3 supplementation for term healthy breastfed Indian infants 2021-03-23T12:53:30+0530 Kaifi Siddiqui Anwar Hasan Siddiqui Sheeba Farooqui Pradeep Kumar Ranbijuli <p>Introduction: Vitamin D is essential for growing children and its deficiency may have a catastrophic effect on growing children. Various reports state that Vitamin D deficiency is widely prevalent in the Indian population including infants and children. Objective: The objective of the study was to assess the efficacy of 400 IU of oral Vitamin D3 supplementation for term healthy breastfed Indian infants. Materials and Methods: The prospective, double-blinded cross-sectional study included 100 newborns divided into two randomized groups, A and B through a computer-generated program. Group A received 1 ml (400IU) Vitamin D drops daily for 3 months along with the breast milk whereas the Group B was only breastfed. Serum Vitamin D, Calcium, and alkaline phosphatase levels were measured in both the groups at birth and 3 months follow-up. Results: At birth no significant difference was observed in the serum level of Vitamin D, calcium and alkaline phosphatase in both the groups; however, at 3 month follow-up visit the Group A babies who were supplemented with Vitamin D 400 IU/day had a significantly more Vitamin D level (27.61 ± 11.95 ng/ml) compared with the babies of the non-supplemented group (10.56 ± 7.34 ng/ml). In the supplemented group, 46.7% had normal Vitamin D levels (&gt;30 ng/ml), 20% had insufficiency (20–30 ng/ml) and 33.3% were deficient (&lt;20 ng/ml). In babies who were non-supplemented, none had normal Vitamin D levels (&gt;30 ng/ml), 13.3% had insufficiency (20–30 ng/ml), and 86.7% were deficient (&lt;20 ng/ml). Group A babies also had significantly more serum calcium (9.81 ± 0.82 mg/dl) as compared to the Group B babies (8.52 ± 0.88). No significant difference was observed in alkaline phosphatase levels in both the group. Conclusion: In view of the high prevalence of maternal Vitamin D deficiency and the consequent low levels in the breast-fed infants do require supplementation of Vitamin D of at least 400 IU/day starting soon after birth.</p> 2021-04-02T00:00:00+0530 Copyright (c) 2021 Pleuropulmonary blastoma: A single-center case series of seven patients 2021-03-21T12:33:28+0530 M Masood Sidiqi Ling Xu Parshotam Gera Colin Kikiros <p>Introduction: Pleuropulmonary blastoma (PPB) is a rare and aggressive primary neoplasm of pleuropulmonary mesenchyme occurring in children. The International PPB Registry was established in 1988 to collect and assess data on PPB worldwide. Objectives: The objectives of the study were to assess the clinical characteristics, histopathology, genetic studies, management, and treatment outcomes of patients with PPB in our institution, and to compare with the published literature. Materials and Methods: We retrospectively reviewed the medical records of all PPB cases diagnosed at Princess Margaret Hospital for Children in West Australia over a period of 26 years (1990–2016). Their clinical characteristics, histopathology, genetic studies, management, and treatment outcomes were recorded. Results: Seven children (four boys and three girls) were treated for PPB at a mean age of 11.5 months (ranges 1 month–3.55 years). Histopathology showed type I PPB in five, type II in one, and type III in one. All seven patients underwent thoracotomy/lobectomy of the corresponding site. One patient required additional bladder resection for coexisting rhabdomyosarcoma. One patient was found to be positive for DICER1 gene mutation. Six patients received adjuvant chemotherapy with vincristine, Adriamycin, and cyclophosphamide regime, with the mean duration of treatment for five patients being 9.4 months excluding one patient who deceased without completion of chemotherapy. During a mean follow-up time of 9 years, the overall survival rate for this cohort was 85.7% (6/7). Conclusion: Our results are comparable to those reported in the literature. It is crucial for clinicians to consider PPB in the evaluation of patients presenting with a cystic lung abnormality, especially in cases with DICER1 mutation or a strong family history of unusual cancers</p> 2021-04-02T00:00:00+0530 Copyright (c) 2021 Predictors for raised body temperature in term healthy neonates during the 1st days of life: A teaching hospital study 2021-03-24T09:13:52+0530 Suryakanta Baraha Prithi Sureka Mummidi Rakesh Kumar Panigrahi <p>Background: Raised body temperature during the neonatal period is considered an alarming sign of systemic infection. However, infection is not the only cause of a raised body temperature in newborns. Elevations in temperature (&gt;37.5°C) are occasionally noted on the 2nd–3rd day of life in infants who are otherwise healthy and asymptomatic. This disturbance is especially likely to occur in breastfed infants or in infants exposed to high environmental temperatures. Objective: The objective of the study was to find out the important predictors for raised body temperature in full-term infants during the 1st days of life and also the rate of neonatal sepsis among these neonates. Study Design: An observational study was conducted on 50 cases and 50 controls (full-term neonates aged 2–7 days) in a single, tertiary institution in East India over a period of 2 years. Results: Inadequate breastfeeding, weight loss, high birth weight, over clothing, inefficient environmental ventilation, and increased ambient environmental temperature were significantly more common in the study group and hence are the most significant predictors for raised body temperature during the 1st days of life. Out of the 50 babies in the study group, only four had positive sepsis screening. Conclusion: Raised body temperature in asymptomatic full-term breastfed babies during the initial days of life (but after the 1st day) is related primarily to dehydration along with factors such as high birth weight, inefficient environmental ventilation, and ambient environmental temperature. Infection is the least common explanation for raised temperature during that period.</p> 2021-04-02T00:00:00+0530 Copyright (c) 2021