Metabolic Evaluation in Children aged 3 months to 2 years with Global Developmental Delay.

OBJECTIVES: To study the clinical profile and role of metabolic evaluation in children aged 3 mo to 2 y with global developmental delay (GDD) of unclear etiology. METHODS: In this prospective study, demographic and clinical data along with first line metabolic test results [blood glucose, arterial blood sample analysis, renal function tests, uric acid, serum electrolytes, liver function tests (LFTs), plasma ammonia, arterial blood lactate and pyruvate, urine ketone/ reducing substances] were documented and analyzed. Tandem Mass Spectroscopy (TMS) and Gas Chromatography and Mass Spectrometry (GC-MS) data were also analysed. RESULTS: Of 101 eligible children, 48 were excluded. Among 53 children included in the study, 32 (60.3%) were less than 1 y and 21 (39.7%) were more than 1 y. Four major developmental domains were almost equally affected in 16 (30.1%), three domains in 4 (7.5%) and two domains in 33 (62.4%) children. Fourteen (26.4%) children were found to have a probable metabolic disorder based on initial tests- 10 mitochondrial disorders, 3 organic-acidemias and 1 fatty-acid-oxidation defect. Further, on TMS and GC-MS tests, 11 (20.7%) had a metabolic disorder- 7 mitochondriopathies, 2 methylmalonic-aciduria, 1 each with glutaric-acidemia and ethylmalonic-aciduria. CONCLUSIONS: Among children with GDD of unclear etiology, metabolic errors constitute a small proportion of etiology. In this group early metabolic tests could identify potentially treatable conditions.

Hospital-based sentinel surveillance for bacterial meningitis in under-five children prior to the introduction of the PCV13 in India.

INTRODUCTION: A hospital-based sentinel surveillance network for bacterial meningitis was established in India to estimate the burden of bacterial meningitis, and the proportion of major vaccine-preventable causative organisms. This report summarises the findings of the surveillance conducted between March 2012, and September 2016 in eleven hospitals. METHODS: We enrolled eligible children with bacterial meningitis in the age group of one to 59 months. CSF samples were collected and processed for biochemistry, culture, latex agglutination, and real-time PCR. Pneumococcal isolates were serotyped and tested for antimicrobial susceptibility. RESULTS: Among 12 941 enrolled suspected meningitis cases, 586 (4.5%) were laboratory confirmed. S. pneumoniae (74.2%) was the most commonly detected pathogen, followed by H. influenzae (22.2%), and N. meningitidis (3.6%). Overall 58.1% of confirmed bacterial meningitis cases were children aged between one, and 11 months. H. influenzae meningitis cases had a high (12.3%) case fatality rate. The serotypes covered in PCV13 caused 72% pneumococcal infections, and the most common serotypes were 14 (18.3%), 6B (12.7%) and 19F (9.9%). Non-susceptibility to penicillin was 57%. Forty-five (43.7%) isolates exhibited multidrug resistance, of which 37 were PCV13 serotype isolates. CONCLUSIONS: The results are representative of the burden of bacterial meningitis among under-five children in India. The findings were useful in rolling out PCV in the National Immunization Program. The non-susceptibility to penicillin and multidrug resistance was an important observation. Timely expansion of PCV across India will significantly reduce the burden of antimicrobial resistance. Continued surveillance is needed to understand the trend after PCV expansion in India.

Clinical Profile and Outcome of Children with Congenital Obstructive Uropathy.

OBJECTIVES: To study the etiology and clinical profile of congenital obstructive uropathy in children, renal status and growth at diagnosis and at follow-up and to determine the predictors for development of chronic kidney disease (CKD). METHODS: An observational (retrospective-prospective) study was conducted at a tertiary care hospital in South India from September 2014 through September 2016. Sixty children diagnosed to have congenital obstructive uropathy with a minimum follow-up period of 5 y were included and followed up prospectively for 2 more years during the study period. The data of the children at admission and follow-up was obtained from the medical records and analyzed. RESULTS: Congenital uretero-pelvic junction obstruction followed by Posterior urethral valve were the most common etiologies identified. Male preponderance (88.3%) was observed with poor urinary stream being the most common presentation (36.6%). Forty percent of the population had elevated creatinine. Fifteen percent were hypertensive and 25% had growth failure at diagnosis. However, there was a reduction in the number of children with poor estimated glomerular filtration rate (eGFR), hypertension and growth faltering during follow-up. Among the risk factors, hypertension at diagnosis [O.R-12.8 (2.21-74.22) and p value <0.05] and frequent urinary tract infection (UTI) [O.R-14.06 (2.32-85.42) and p value <0.05] were the most important factors for CKD progression. Children with low eGFR (< 60 ml/min/1.73m2) had more height faltering and hypertension at follow-up (p value <0.05). CONCLUSIONS: Hypertension and frequent UTI were observed to be strongly associated with progression of CKD. Estimated GFR was found to be significantly associated with faltering of height and hypertension. Preserving the renal function prevents growth faltering and development of hypertension at follow-up thereby ensuring a better quality of life.

Factor XIII Deficiency in Siblings: Importance of Prophylactic Replacement.

Factor XIII deficiency, an autosomal recessive trait, can result in serious bleeding manifestation. This case report presents two brothers with Factor XIII deficiency. Though the younger sibling had been screened and diagnosed prophylactic replacement therapy had not been initiated unlike the elder brother. He presented with intracranial haemorrhage needing surgical evacuation while the elder brother remained symptom free on regular prophylactic replacement of FFP.

Oxidative stress in sepsis in children.

BACKGROUND & OBJECTIVE: Information on oxidative damage during sepsis in children is not available, we undertook this study to assess the levels of certain antioxidants in blood of children with sepsis. METHODS: Study group had 38 children with sepsis (<5 yr) and 39 age-and sex-matched controls admitted to a tertiary care hospital. Red cell glutathione (GSH), superoxide dismutase (SOD) and thiobarbituric acid reactive substance (TBARS) and plasma vitamin C were estimated by standard techniques. RESULTS: There was no significant change in erythrocyte GSH, SOD and TBARS levels in sepsis when compared to controls. This may be due to the adaptive response of the body to combat the oxidative stress. However, plasma vitamin C levels were significantly reduced in patients aged one year one month to five years which may be due to active phagocytosis and due to its role as a free radical scavenger. INTERPRETATION & CONCLUSION: Our findings show that children affected by sepsis probably adapt to the free radical toxicity induced by this condition. Further studies need to be done on a larger sample to confirm the findings.

Congenital tuberculosis associated with maternal asymptomatic endometrial tuberculosis.

This is a report of a 4-month-old baby girl who presented with respiratory distress, bronchopneumonia, marasmus and hepatosplenomegaly and proved to have congenital tuberculosis on the basis of a strongly positive Mantoux test and liver biopsy findings. Endometrial biopsy in the asymptomatic mother confirmed the source of infection and the perinatal onset of illness. The age range of previously reported cases of congenital tuberculosis is 1-84 days and this case would appear to be the latest presentation of congenital tuberculosis in the literature.