Hypertonia, Microcephaly And Hyperkalaemia In A Neonate: Coexistence Of Neurodevelopmental Disorder And Adrenal Insufficiency

  In neonates with more than one clinical abnormality, we always look for a unifying diagnosis that explains the entire clinical presentation. In rare instances, two conditions can co-exist. Here we report a neonate born out of consanguineousmarriage presenting at 48 hours of life with microcephaly, encephalopathy, hypertonia. He had excessive weight loss,persistent hyperkalaemia, shock and 17- hydroxyprogesterone was elevated. Steroids were started for adrenal insufficiency. Magnetic  resonance imaging (MRI) of the brain revealed T2 hyperintensity of cerebral white matter and cerebral atrophy. Clinical exome sequencing (CES) revealed a pathogenic homozygous missense variation of CYP21A2 gene responsible for congenital adrenal hyperplasia and also a homozygous missense variant of unknown significance (VUS) of VARS gene implicated in Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy (NDMSCA). Baby was neurologically abnormal at discharge. In the setting of consanguinity, there is a possibility of two genetic conditions. Clinical exome sequencing is useful in demystifying the diagnosis in complex clinical presentation

Profile and outcome of children with inborn errors of metabolism in a tertiary pediatric intensive care unit in South India

Introduction: Inborn errors of metabolism (IEM) can present as acute metabolic emergencies resulting in significant morbidity or death. Good intensive care supportive management and specific metabolic crisis treatment by tertiary pediatric intensive care unit (PICU) play a crucial role in optimizing the outcomes. Objectives: We aimed to study the clinical profile and outcome of children with IEM presenting as an acute metabolic crisis in a tertiary PICU. Methods: This retrospective descriptive study was conducted in a tertiary care center in south India between June 2016 and December 2018. We included children admitted in PICU as medical emergency and diagnosed to have IEM either earlier or at the time of PICU presentation by biochemical testing (basic testing and tandem mass spectrometry [TMS], gas chromatography-mass spectrometry [GCMS] and high-performance liquid chromatography [HPLC], and/or specialized testing) and/or molecular analysis. Clinical profile, details of diagnostic workup, and outcome were collected and analyzed. Results: Out of 2815 children admitted in PICU, 15 had IEM (0.9%). Median (interquartile range) age of presentation was 15 months (10–30 months). Consanguinity was found in 80%. The most common disorder was protein metabolic disorder. Seven patients were diagnosed in the newborn period, five during evaluation for developmental delay before PICU admission, and three were newly diagnosed during PICU admission. Supportive therapy of invasive/non-invasive ventilation and peritoneal dialysis was initiated in 10 and 4, respectively. Special formula was started in nine patients. Five (33%) died in spite of intensive care management. TMS, GCMS, and HPLC yielded definitive diagnosis in 12 (80%) patients. Molecular analysis was done in 12 patients. Conclusion: The most common cause for metabolic crisis in PICU is due to protein metabolic disorder. Aggressive intensive care and IEM directed therapy can be lifesaving, but still, the mortality is high

Incidence of invasive candidal infection in very low birth weight neonates over a period of 5-year: A single institutional study

Background: Fungal infection is one of the important causes of bloodstream infection in very low birth weight (VLBW) and extremely low birth weight (ELBW) infants. Objective: To find out the incidence, mortality rate, and clinical spectrum of infants with invasive candidal infection (ICI) among VLBW infants. Materials and Methods: A retrospective descriptive study was conducted over a period of 5-year at a tertiary care hospital. VLBW infants admitted within 24 h of birth were included. The clinical characteristics and the outcome of the infants who developed fungal infection were studied. The end point was either discharge from the unit or death of the infants who developed fungal sepsis. Results: During the study period, there were a total of 641 VLBW infants admitted and 18 neonates had invasive fungal infections (ICI), which accounted to an incidence of 2.8%. The mean birth weight was 1010±289 g, and the mean gestational age (GA) was 28.6±2.93 weeks. End organ involvement was found in 9 (50%) infants with the eye being the most commonly involved organ (39%) followed by renal involvement (22%). Stratified analysis revealed that lower GA and lower birth weight were associated with higher incidence of ICI (p<0.01). Out of 18 isolates that were identified, Candida albicans was the most common organism isolated in 13 (72%) infants. More than ¼ of the cultures (28%) isolated were non-albicans Candida species. The mortality rate among infants with ICI was 11% (2/18). The two infants who died had septicemia caused by C. albicans and multiple (renal and eye) end organ involvement. All-cause mortality in the study group was also 11% (73/641). Conclusion: The incidence of ICI without systemic antifungal prophylaxis was 2.8% and 5.3% in VLBW and ELBW infants, respectively. C. albicans was more common, but the emergence of Candida non-albicans is seen as a growing threat with some of them displaying resistance to azole group of antifungals

Postnatal predictors for outcome in congenital diaphragmatic hernia: A singlecenter retrospective cohort study from India

Background: Congenital diaphragmatic hernia (CDH) has high morbidity and mortality. Many outcome predictors have been tried.Objective: To assess the short-term outcomes of neonates with isolated CDH and find the predictors of outcome. Methods: Neonateswith isolated CDH managed over 12-year period from June 2004 were analyzed. Antenatal counseling, delayed surgery afterstabilization, primary conventional ventilation and rescue high frequency ventilation if needed is the unit protocol. Details onbaseline characteristics, delivery room management, clinical details, ventilation details, management of pulmonary hypertension,inhaled nitric oxide usage, operative details, and post-operative period were noted. Oxygenation index (OI) was calculated, andechocardiography findings on pulmonary hypertension were noted. Outcome predictors were assessed. Results: 40 neonates withisolated CDH were managed during the study period. The mean birth weight and gestation were 37.7±1.55 weeks and 2830±480 g,respectively. The majority of them were intramural and had an antenatal diagnosis. Definitive sepsis, pneumothorax, and severepulmonary hypertension were seen in 10, 9, and 17 neonates, respectively. In 32 neonates, surgical repair was done and 31 (78%)survived at discharge. Median (range) of maximum OI on day 1 was 6 (2.2-39) and 59.9 (7.65-96) for survivors and non-survivors,respectively. Area under the curve (AUC) for OI prediction of survival was 0.94 (confidence interval 0.86-0.99). The adjusted oddsratio for survival, when maximum OI was below 15, was 36.2 (4.6-142). Receiver operating curve showed AUC for OI in predictingsurvival was 0.95 (0.86-0.99). Conclusion: We found 78% survival for isolated CDH neonates using standard protocol and OI is agood predictor for survival