Clinical Performance of FilmArray Meningitis/Encephalitis Multiplex Polymerase Chain Reaction Panel in Central Nervous System Infections.

INTRODUCTION: Early identification of etiology is very important for initiating appropriate therapy promptly in patients with meningoencephalitis (ME). BioFire FilmArray® meningitis/encephalitis (FA-ME) panel is a fully automated multiplex polymerase chain reaction (PCR) that detects 14 pathogens simultaneously in an hour. There is a dearth of studies highlighting its usefulness in ME syndrome in Indian patients. MATERIALS AND METHODS: We performed a retrospective analysis of patients, admitted to the Kerala Institute of Medical Sciences Hospital, Thiruvananthapuram, Kerala, South India, with meningitis/encephalitis syndrome who underwent the multiplex PCR test on cerebrospinal fluid (CSF) over a period of 2 years from 2016 to 2018. Patients presenting with clinical diagnosis of acute meningitis, encephalitis, or ME who underwent CSF FA-ME panel were studied. The performance of the FA-ME panel was compared to CSF bacterial culture. RESULTS: Two-hundred and fifty-nine patients between December 2016 and December 2018 underwent the FA-ME test in CSF. FA-ME test detected pathogens in 61 (23.6%) out of 259 patients with ME syndrome. Among the pathogens detected by FA-ME panel, enterovirus was the commonest accounting for 29 cases (47.5%), followed by varicella in 11 patients (18%) and pneumococci in 9 (14.8%). CSF bacterial culture yield was low, positive only in 8 (3%) out of 259 cases, and matched with FA-ME panel in only one sample that grew Streptococcus pneumoniae. Bacterial culture yielded seven pathogens in those whose FA-ME panels were negative. CONCLUSION: FA-ME panel improves diagnostic yield as compared to bacterial culture (26.3 vs 3%). FA-ME test helps in the early initiation of targeted antibiotic therapy and greater antibiotic de-escalation. HOW TO CITE THIS ARTICLE: Chandran S, Arjun R, Sasidharan A, Niyas VKM, Chandran S. Clinical Performance of FilmArray Meningitis/Encephalitis Multiplex Polymerase Chain Reaction Panel in Central Nervous System Infections. Indian J Crit Care Med 2022;26(1):67-70.

Disordered eating in women with type 1 diabetes: Continuous glucose monitoring reveals the complex interactions of glycaemia, self-care behaviour and emotion.

OBJECTIVES: Glycaemia in people with type 1 diabetes and disordered eating is not well characterised. We explored the glycaemia, self-care behaviour and emotional state of women with type 1 diabetes and disordered eating. RESEARCH DESIGN AND METHODS: In all, 13 women with and 10 without disordered eating and type 1 diabetes participated in this case-control study. We used a mixed-methods approach with a 7-day blinded continuous glucose monitoring and real-time record of non-prompted capillary glucose (CG), emotion, activity and physical symptoms on a diabetes diary using a smartphone application (mySugr®). We compared groups using Mann-Whitney U test or Fisher's exact test. We conducted thematic analyses of free-text diary entries (NVivo®) and quantitative analysis of emotion/symptom tags. RESULTS: People with type 1 diabetes and disordered eating spent longer time above range in level 2 hyperglycaemia (>13.9 mmol/L, Median [interquartile range]: 21% [16,60] vs 5% [2,17], p = 0.015). They had lower time in range and similar time below range compared to those without disordered eating. The standard deviation of CG was significantly higher in the disordered eating group (4.7 mmol/L [4.5, 6.1] vs 3 [2.8, 3.2], p = 0.018). The median of the percentage of rising sensor glucose trends was three times higher in the disordered eating group. They also had higher negative emotional and physical symptoms associated with high blood glucose (>15 mmol/L). CONCLUSIONS: Disordered eating has a significant impact on the glycaemia and emotion of a person with type 1 diabetes.

Chest x-ray scoring as a predictor of COVID-19 disease; correlation with comorbidities and in-hospital mortality.

OBJECTIVES: To devise a novel, simple chest x-ray (CXR) scoring system which would help in prognosticating the disease severity and ability to predict comorbidities and in-hospital mortality. METHODS: We included a total of 343 consecutive hospitalised patients with COVID-19 in this study. The chest x-rays of these patients were scored retrospectively by three radiologists independently. We divided CXR in to six zones (right upper, mid & lower and left, upper mid & lower zones). We scored each zone as- 0, 1 or 2 as follows- if that zone was clear (0) Ground glass opacity (1) or Consolidation (2). A total of score from 0 to 12 could be obtained. RESULTS: A CXR score cut off ≥3 independently predicted mortality. Along with a relatively higher NPV ≥80%, it reinforced the importance of CXR score is a screening tool to triage patients according to risk of mortality. CONCLUSIONS: We propose that Pennine score is a simple tool which can be adapted by various countries, experiencing a large surge in number of patients, to decide which patient would need a tertiary Hospital referral/admission as opposed to patients that can be managed locally or at basic/primary care hospitals.

The importance and implications of preconception genetic testing for accurate fetal risk estimation in 21-hydroxylase congenital adrenal hyperplasia (CAH).

Preconception genetic testing should be offered to all patients with 21-hydroxylase congenital adrenal hyperplasia. We report how the preconception genetic testing of a lady and her partner dramatically changed the estimated risk to their offspring and the major implications the results had on pregnancy planning. The risk of conceiving a female fetus with congenital adrenal hyperplasia brings in considerations of prenatal dexamethasone therapy and prenatal diagnosis. We also highlight the differences between genetic testing on a research and clinical basis.

Meconium Peritonitis: Correlation of Antenatal Diagnosis and Postnatal Outcome - An Institutional Experience over 10 Years.

OBJECTIVE: To identify the fetal and neonatal imaging characteristics of meconium peritonitis (MP) and their clinical outcome. We also studied the role of prenatal ultrasound (US) in antenatal diagnosis and its use in predicting the need for surgical intervention postnatally. MATERIAL AND METHODS: We conducted a retrospective analysis of a cohort of 18 infants with MP from April 2004 to March 2014. RESULTS: Prenatal US detected MP-related abnormalities in 15/18 (83.3%) fetuses. The median gestational age at initial diagnosis of MP was 24 weeks (range 19-31). Fetal ascites (93.3%) was the most common prenatal US finding. Of the 18 infants, 12 (66.7%) required surgical intervention. The overall survival rate was 94.4%. All infants with a prenatal US scan showing meconium pseudocyst or bowel dilatation required surgical intervention postnatally. DISCUSSION: A combination of ascites, intraperitoneal calcification, and echogenic bowel on fetal US raises a high suspicion of MP. Surgical intervention is indicated in the presence of meconium pseudocyst on fetal or postnatal US scan. Antenatal US has high specificity (100%) but low sensitivity (22.2%) in detecting meconium pseudocyst. A favorable outcome can be expected with early antenatal diagnosis and timely surgical intervention in a tertiary hospital.

Type 1 Diabetes in Singapore: Self-Care Challenges, Diabetes Technology Awareness, Current Use, and Satisfaction, an Online Survey.

Introduction: To describe the self-care challenges, diabetes technology awareness, current use, and satisfaction among adults with type 1 diabetes and parents of children with type 1 diabetes in Singapore. Methods: An anonymous online survey was administered between November 2020 and October 2021. Data are presented as mean (standard deviation) or count (percentages). Comparisons between groups were done using the independent samples T-test. Results: 251 people (176 adults, 75 parents) participated. The most challenging self-care burdens were carbohydrate counting (24.4%) among adults and insulin dose calculations (28%) among parents. Nocturnal awakenings for diabetes care of their child were a common event (25.3%). Despite high awareness about continuous glucose monitoring devices (77.8% adults, 78.7% parents) the use (24.9% adults, 55% children) remained low. Both adults and parents of children with type 1 diabetes found continuous glucose monitoring to be liberating and less restrictive. Despite overall low insulin pump use (23.9% adults, 29.3% children); satisfaction scores were higher among insulin pump users than insulin pen users (P = 0.02). Conclusion: Carbohydrate counting and insulin dose calculations were the most challenging self-care tasks among people with type 1 diabetes in Singapore. Diabetes technology use was relatively low in Singapore. Continuous glucose monitoring and Insulin pump users found them to be beneficial.

The Cost-Effectiveness of an Advanced Hybrid Closed-Loop System Compared to Standard Management of Type 1 Diabetes in a Singapore Setting.

Background: Despite advances in technology, glycemic outcomes in people with type 1 diabetes (T1D) remain suboptimal. The MiniMed 780G (MM780G) advanced hybrid closed-loop (AHCL) system is the latest technology for T1D management with established safety and efficacy. This study explores the cost-effectiveness of MM780G AHCL compared against multiple daily injections (MDI) plus intermittently scanned continuous glucose monitor (isCGM). Methods: A cost-utility analysis was conducted, simulating lifetime outcomes for 1000 T1D individuals, with baseline hemoglobin A1c of 8.4%, using the IQVIA Core Diabetes Model (CDM) v9.5. A Singapore health care payer perspective was taken with 2023 costs applied. Treatment effects were taken from the ADAPT study and treatment-related events from a combination of sources. T1D complication costs were derived from local literature, and health state utilities and disutilities from published literature. Scenario analyses and probabilistic sensitivity analyses (PSAs) explored uncertainty. Cost-effectiveness was assessed based on willingness-to-pay (WTP) thresholds set to Singapore Dollars (SGD) 45,000 (United States Dollars [USD] 33,087) per quality-adjusted life year (QALY) and Singapore's gross domestic product (GDP) per capita of SGD 114,165 (USD 83,941) per QALY. Results: A switch from MDI plus isCGM to MM780G resulted in expected gains in life-years (+0.78) and QALYs (+1.45). Cost savings through reduction in T1D complications (SGD 25,465; USD 18,723) partially offset the higher treatment costs in the AHCL arm (+SGD 74,538; +USD 54,805), resulting in an estimated incremental cost-effectiveness ratio of SGD 33,797 (USD 24,850) per QALY gained. Findings were robust, with PSA outputs indicating 81% and 99% probabilities of cost-effectiveness at the stated WTP thresholds. Conclusion: MM780G is a cost-effective option for people with T1D managed in a Singapore setting.

Fulminant type 1 diabetes, an underrecognized and unique subtype of type 1 diabetes: A case series from Singapore.

Fulminant type 1 diabetes (FT1D) is a unique subtype of type 1 diabetes, characterized by acute absolute insulin deficiency, severe ketosis, and increased risk of hypoglycemia, glycemic variability and microvascular complications. Seven people with FT1D were identified from two tertiary centers in Singapore. Six were Chinese, the mean age was 35 years and all were lean (mean body mass index 20.3 kg/m2). All presented with diabetes ketosis or ketoacidosis and low C-peptide. All but one had low glutamic acid decarboxylase antibodies. Nearly half had a missed/delayed diagnosis of FT1D. Three had frequent hypoglycemia, which improved after transition to continuous subcutaneous insulin infusion therapy. Individuals with FT1D experience unique diagnostic and management challenges associated with rapid absolute insulin deficiency. Greater awareness about this clinical entity is required.

Intermittently scanned continuous glucose monitoring provides no benefit over structured self-monitoring of blood glucose in type 2 diabetes not on prandial insulin, in the context of diabetes self-management education: GLucose monitoring programme SingaporE (GLiMPSE).

OBJECTIVE: We evaluated the impact of intermittently scanned continuous glucose monitoring(is-CGM)over self-monitoring of blood glucose(SMBG) in the context of diabetes self-management education (DSME) in sub-optimally controlled type 2 diabetes(T2D) in a multi-ethnicsetting. RESEARCH DESIGN AND METHOD: Randomized-controlled, open-label trial (NCT04564911), of T2D with HbA1c ≥ 7.5-≤10 %, on oral agents with/without basal insulin was carried out. Intervention arm received 6 weeks(w) continuous is-CGM, followed by one is-CGM/month till 24w. Control arm was advised to perform 4 SMBG/day. Educationwas delivered at weeks 0, 2, 8, 16. PRIMARY OUTCOME: Change in HbA1c from baseline at 24w. Modified intention-to-treat (mITT) analysis with linear mixed-effect model for repeated measurementswas performed. RESULTS: 176 subjects, age 55 ± 10.7 years(y), DM duration 11 ± 7.3y, BMI 27.8 ± 5.9 kg/m2, 58 % Male, 29.5 % basal insulin users were analysed. Within each arm,from baseline to 24w, mean HbA1c decreasedby -0.6 % (-6.6.mmol/mol, p-value < 0.01)and weight decreased(isCGM: -1.44 kg; SMBG: -1.25 kg, both p < 0.01). These changes were sustained to one year. However, there wasno significant difference in these parameters between arms (p-value > 0.05). CONCLUSION: In the context of DSME, use of either SMBG or is-CGM led to improved glycaemia and reduced weight over a period of 24 weeks, sustained to one year.

Relationship between CGM-derived nocturnal hypoglycemia and subjective sleep quality in people with type 1 diabetes.

This pilot study explores the relationship between nocturnal hypoglycemia (NH) and subjective sleep quality in people with type 1 diabetes (T1D). Twenty-seven adults with T1D wore a Freestyle Libre Pro CGM and recorded subjective sleep quality daily, as assessed by a single Likert scale question. Frequency, duration, area under the curve (AUC) of NH (00:00-06:00) defined as sensor glucose below threshold (< 3.9 mmol/L; < 3 mmol/L) for ≥ 15 min, nocturnal mean glucose, Time in Range (3.9-10 mmol/L), and coefficient of variation were calculated. Twenty-seven adults, 18 (66.7%) women, with median (IQR) age of 27 (26, 32) years and HbA1c of 7.6 (7.1, 8.1) participated. Nights with NH < 3.9 mmol/L resulted in a lower (worse) sleep score than nights without NH [Mean (SD): 3.3 (1.2) vs 3.5 (1.0), p = 0.03). A higher frequency and longer duration but not AUC [adjusted OR (95% CI) 0.52 (0.38, 0.72), 0.961 (0.932, 0.991), 0.999 (0.998, 1.001) respectively)], of NH < 3.9 mmol/L, were associated with a lower sleep score. NH < 3.0 mmol/L metrics were not associated with sleep quality. Recurrent NH < 3.9 mmol/L, rather than prolonged NH < 3.0 mmol/L, seems associated with subjective sleep quality, implying that those with the highest burden of NH are likely unaware of it.

Watchful waiting versus pharmacological management of small-for-gestational-age infants with hyperinsulinemic hypoglycemia.

Introduction: Given that reports on severe diazoxide (DZX) toxicity are increasing, we aimed to understand if the short-term clinical outcomes of small-for-gestational-age (SGA) infants with hyperinsulinemic hypoglycemia (HH) managed primarily by supportive care, termed watchful waiting (WW), are different from those treated with DZX. Method: A real-life observational cohort study was conducted from 1 September 2014 to 30 September 2020. The WW or DZX management decision was based on clinical and biochemical criteria. We compared central line duration (CLD), postnatal length of stay (LOS), and total intervention days (TIDs) among SGA-HH infants treated with DZX versus those on a WW approach. Fasting studies determined the resolution of HH. Result: Among 71,836 live births, 11,493 were SGA, and 51 SGA infants had HH. There were 26 and 25 SGA-HH infants in the DZX and WW groups, respectively. Clinical and biochemical parameters were similar between groups. The median day of DZX initiation was day 10 of life (range 4-32), at a median dose of 4 mg/kg/day (range 3-10). All infants underwent fasting studies. Median CLD [DZX, 15 days (6-27) vs. WW, 14 days (5-31), P = 0.582] and postnatal LOS [DZX, 23 days (11-49) vs. WW, 22 days (8-61), P = 0.915] were comparable. Median TID was >3-fold longer in the DZX than the WW group [62.5 days (9-198) vs. 16 days (6-27), P < 0.001]. Conclusion: CLD and LOS are comparable between WW and DZX groups. Since fasting studies determine the resolution of HH, physicians should be aware that clinical intervention of DZX-treated SGA-HH patients extends beyond the initial LOS.

Association of Smartphone-Based Activity Tracking and Nocturnal Hypoglycemia in People With Type 1 Diabetes.

BACKGROUND: Nocturnal hypoglycemia (NH) remains a major burden for people with type 1 diabetes (T1D). Daytime physical activity (PA) increases the risk of NH. This pilot study tested whether cumulative daytime PA measured using a smartphone-based step tracker was associated with NH. METHODS: Adults with T1D for ≥ 5 years (y) on multiple daily insulin or continuous insulin infusion, not using continuous glucose monitoring and HbA1c 6 to 10% wore blinded Freestyle Libre Pro sensors and recorded total daily carbohydrate (TDC) and total daily dose (TDD) of insulin. During this time, daily step count (DSC) was tracked using the smartphone-based Fitbit MobileTrack application. Mixed effects logistic regression was used to estimate the effect of DSC on NH (sensor glucose <70, <54 mg/dl for ≥15 minutes), while adjusting for TDC and TDD of insulin, and treating participants as a random effect. RESULTS: Twenty-six adults, with 65.4% females, median age 27 years (interquartile range: 26-32) mean body mass index 23.9 kg/m2, median HbA1c 7.6% (7.1-8.1) and mean Gold Score 2.1 (standard deviation 1.0) formed the study population. The median DSC for the whole group was 2867 (1820-4807). There was a significant effect of DSC on NH episodes <70 mg/dl. (odds ratio 1.11 [95% CI: 1.01-1.23, P = .04]. There was no significant effect on NH <54 mg/dl. CONCLUSION: Daily PA measured by a smartphone-based step tracker was associated with the risk of NH in people with type 1 diabetes.

Telemonitoring With a Connected Glucose Meter Improves Glycemia Among People With Insulin-Treated Type 2 Diabetes.

BACKGROUND: Delayed initiation and inadequate titration remain critical challenges to optimizing insulin therapy in type 2 diabetes (T2D). We aimed to study whether hemoglobin A1c (HbA1c) can be lowered in people with insulin-treated T2D using telemonitoring. METHODS: This single-center study recruited adults with greater than or equal to six months of diabetes, greater than or equal to three months of insulin therapy, HbA1c ≥8.5% and ≤12.5%, and body mass index (BMI) ≤40 kg/m2. All participants received a connected glucose meter and the accompanying smartphone application. Participants sent weekly blood glucose (BG) diary to their primary endocrinologist via email. Adjustments in insulin doses were communicated to the participants. HbA1c, proportion of BG readings in range (70-180 mg/dL, PIR), below range (<70 mg/dL, PBR) and above range (>180 mg/dL, PAR), and glycemic variability as the coefficient of variation (% CV) were measured at baseline, week 12, and week 24 and compared using repeated-measures analysis of variance (ANOVA) or Friedman's ANOVA. RESULTS: We recruited 40 people (55% women). Mean age was 57.9 years, BMI 27.8 kg/m2, and baseline HbA1c 9.8% (83.7 mmol/mol). Mean HbA1c improved by 1.7%, % CV reduced from 32.9% to 30.7%, PIR increased from 58.8% to 67.1% (all P <.01) by week 24, without any change in PBR. This was achieved with a 0.04 U/kg/d median increase in total daily dose of insulin and 0.9 kg weight gain over 24 weeks. CONCLUSION: Telemonitoring and titration of insulin using a connected glucose meter resulted in significant improvements in glycemia, characterized by a reduction in HbA1c, increase in PIR, and reduction in glycemic variability without any increase in hypoglycemia.

Case Report: Neurodevelopmental Outcome in a Small-for-Gestational-Age Infant With Symptomatic Hyperinsulinemic Hypoglycemia, Gaze Preference, and Infantile Spasms.

Recurrent and profound hypoglycemia is a leading cause of neonatal brain injury. Small-for-gestational-age infants are at risk of hypoglycemia due to substrate deficiency and hyperinsulinism. Inappropriate insulin secretion by the ß-cells of the pancreas results in hypoglycemia, neuronal energy deprivation, and parieto-occipital brain injury. Hypoglycemic neuronal injury is increasingly being identified as a trigger for infantile spasms, even though the underlying pathophysiological mechanisms remain elusive. A term, small-for-gestational-age male infant developed severe symptomatic hypoglycemia on day 3 of life. He required a high glucose infusion rate (14 mg/kg/min) to maintain normoglycemia. Critical blood samples showed inappropriate insulin levels while hypoglycemic and hypoketonemic, consistent with a diagnosis of hyperinsulinemic hypoglycemia. Blood glucose levels normalized with a diazoxide dose of 5 mg/kg/day. Gradually, glucose infusion was weaned with increasing oral feeds while maintaining prefeed capillary blood glucose levels. While at home, his glucose profile remained stable on the self-weaning dose of diazoxide. He passed a resolution fasting study at 4 months of age after weaning off diazoxide. He developed left gaze preference at 2.5 months of age while on treatment for hyperinsulinemic hypoglycemia but developed infantile spasms at 5 months that was confirmed with an electroencephalogram (EEG). Gaze preference may be epileptic, even in the absence of seizures. Spasms were well controlled with high-dose prednisolone therapy. At the age of 6 years, he has a mild fine motor delay and learning disabilities. Early diagnosis and treatment of infantile spasms have a better prognosis. Identifying gaze preference as a predating sign of occipital lobe epilepsy, EEG monitoring, and, if required, treatment could have possibly averted the genesis of infantile spasms.

Klinefelter syndrome presenting with perinatal ascites associated with unilateral renal agenesis and a prostatic utricle cyst.

We present a rare case of Klinefelter syndrome who presented with perinatal ascites, unilateral renal agenesis and a prostatic utricle cyst. The patient was born at term via emergency Caesarean section with gross abdominal distension. Antenatally, amniocentesis revealed a fetal karyotype of Klinefelter syndrome (47, XXY), and the 34-week ultrasound scan showed a cyst measuring 17×21×27 mm located inferior-posterior to the bladder. There was no ascites noted then, but a small left pelvic kidney was present. Ultrasound kidney, ureter and bladder as well as CT scan of the thorax, abdomen and pelvis done at birth showed a solitary right kidney with large-volume ascites and no evidence of a cyst adjacent to the bladder. These findings suggest urinary ascites from an involuting left renal system or a ruptured prostatic utricle cyst. We report the first case of Klinefelter syndrome associated with a prostatic utricle cyst and unilateral renal agenesis, presenting with neonatal ascites.

Constriction ring of the penis in a newborn infant: A rare form of amniotic band syndrome.

The amniotic band comprises disrupted amnion strands causing entrapment or entanglement of various fetal parts resulting in a spectrum of anomalies from digital band constriction or amputation to severe craniofacial/visceral defects and even fetal demise. We present a newborn infant with a rare, isolated ring constriction of the penis.

Pneumatosis coli in preterm neonates: Can they be managed more conservatively to maintain the intestinal milieu?

Necrotising enterocolitis (NEC) is a severe gastrointestinal disease mostly in premature infants due to intestinal necrosis. The aetiology of NEC is multifactorial and includes gut immaturity, intestinal dysbiosis and exaggerated intestinal mucosal reactivity to microbial ligands. Radiographic evidence of pneumatosis intestinalis has been a critical feature for diagnosing NEC Bell stage ≥IIA and recommended treatment includes prolonged antibiotics (7-14 days) while off enteral feeds. Pneumatosis coli (Pcoli), a mild or benign form of NEC, is characterised by pneumatosis limited to the colon in an infant having haematochezia, negative septic screening and no systemic signs. We report two healthy preterm infants with haematochezia and colonic pneumatosis while on breast milk feeds. The sepsis screen was negative. A brief period of antibiotics and gut rest led to the spontaneous resolution of haematochezia and colonic pneumatosis, facilitating early enteral feeds. This case report emphasises the need to differentiate NEC from benign Pcoli.

Safety and efficacy of low-dose diazoxide in small-for-gestational-age infants with hyperinsulinaemic hypoglycaemia.

OBJECTIVES: Diazoxide (DZX) is the drug of choice for treating hyperinsulinaemic hypoglycaemia (HH), and it has potentially serious adverse effects. We studied the safety and efficacy of low-dose DZX in small-for-gestational-age (SGA) infants with HH. DESIGN: An observational cohort study from 1 September 2014 to 31 September 2020. SETTING: A tertiary Women's and Children's Hospital in Singapore. PATIENTS: All SGA infants with HH. INTERVENTION: Diazoxide, at 3-5 mg/kg/day. MAIN OUTCOME MEASURES: Short-term outcomes; adverse drug events and fasting studies to determine 'safe to go home' and 'resolution' of HH. RESULTS: Among 71 836 live births, 11 493 (16%) were SGA. Fifty-six (0.5%) SGA infants with HH were identified, of which 27 (47%) with a mean gestational age of 36.4±2 weeks and birth weight of 1942±356 g required DZX treatment. Diazoxide was initiated at 3 mg/kg/day at a median age of 10 days. The mean effective dose was 4.6±2.2 mg/kg/day, with 24/27 (89%) receiving 3-5 mg/kg/day. Generalised hypertrichosis occurred in 2 (7.4%) and fluid retention in 1 (3.7%) infant. A fasting study was performed before home while on DZX in 26/27 (96%) cases. Diazoxide was discontinued at a median age of 63 days (9-198 days), and resolution of HH was confirmed in 26/27 (96%) infants on passing a fasting study. CONCLUSION: Our study demonstrates that low-dose DZX effectively treats SGA infants with HH as measured by fasting studies. Although the safety profile was excellent, minimal adverse events were still observed with DZX, even at low doses.

Do renal and cardiac malformations in the fetus signal carnitine palmitoyltransferase II deficiency? A rare lethal fatty acid oxidation defect.

The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency is a rare lethal inherited disorder of fatty acid oxidation. Carnitine essentially transfers long-chain fatty acids across the mitochondrial membranes for ß-oxidation, where CPT II plays a key role. CPT II deficiency phenotypical forms include lethal neonatal, severe infantile and myopathic forms. We present a term small-for-gestational-age neonate with hypoglycaemia, seizures, refractory cardiac arrhythmias and intracranial haemorrhage. Plasma acylcarnitine profile and the genetic study confirmed CPT II deficiency. Additionally, likely pathogenic variants in the SLC22A5 gene point to primary carnitine deficiency. Antenatal findings of polycystic kidney disease and cardiomegaly were confirmed postnatally. All supportive measures, including extracorporeal life support, failed to improve the clinical course, and the baby succumbed. Major renal, cerebral and cardiac anomalies were reported with CPT II deficiency. In our case, fetal polycystic nephromegaly and cardiomegaly with parental consanguinity should have signalled the possibility of this disorder.

Necrotizing pneumonia requiring prolonged extracorporeal membrane oxygenation: Pushing the boundaries in pediatric ECMO.

Extracorporeal membrane oxygenation (ECMO) is a life-saving rescue therapy used in acute respiratory failure refractory to invasive mechanical ventilation. Recent studies on positive outcomes of extended ECMO therapy are promising. We describe a case of a 2-year 8-month-old female child with necrotizing pneumonia secondary to Streptococcus pneumoniae, Influenza A, and Mycoplasma pneumoniae, who survived with intact neurological function and no long-term adverse outcomes after a prolonged ECMO run of 86 days. To the best of our knowledge, this is one of the longer durations of ECMO with transplant-free survival in a pediatric patient requiring respiratory support with good recovery and a good functional outcome. Allowing time for native lung recovery is pivotal for optimal recovery, despite significant lung injury due to the underlying disease process. With evolving ECMO experience, clinicians may need to re-consider the conventional maximum duration of ECMO in children with severe respiratory failure on a case-by-case basis.