Children presenting with diabetes and diabetic ketoacidosis to Emergency Departments during the COVID-19 pandemic in the UK and Ireland: an international retrospective observational study.

OBJECTIVES: To describe the incidence of new onset paediatric diabetes mellitus, clinical characteristics and patterns of presentation to emergency departments (ED) during the COVID-19 pandemic, and to assess whether this increase was associated with SARS-CoV-2 infection. DESIGN: Retrospective medical record review. SETTING: Forty nine paediatric EDs across the UK and Ireland. PATIENTS: All children aged 6 months to 16 years presenting to EDs with (1) new onset diabetes or (2) pre-existing diabetes with diabetic ketoacidosis (DKA), during the COVID-19 pandemic (1 March 2020-28 February 2021) and the preceding year (1 March 2019-28 February 2020). RESULTS: There were increases in new onset diabetes (1015 to 1183, 17%), compared with background incidence of 3%-5% in the UK over the past 5 years. There were increases in children presenting with new onset diabetes in DKA (395 to 566, 43%), severe DKA (141 to 252, 79%) and admissions to intensive care (38 to 72, 89%). Increased severity was reflected in biochemical and physiological parameters and administration of fluid boluses. Time to presentation from symptom onset for children presenting with new onset diabetes and DKA were similar across both years; healthcare seeking delay did not appear to be the sole contributing factor to DKA during the pandemic. Patterns of presentation changed in the pandemic year and seasonal variation was lost. Children with pre-existing diabetes presented with fewer episodes of decompensation. CONCLUSIONS: There were increases in new onset diabetes in children and a higher risk of DKA in the first COVID pandemic year.

Fifteen-minute consultation: Does this child have COVID-19 (and does it matter)?

SARS-CoV-2 was identified as a new virus in January 2020 following reports of pneumonia of unknown aetiology from China. Since then, the virus has spread rapidly throughout the world. While evidence accumulates on the collateral damage to children as a result of system changes, SARS-CoV-2 appears to rarely cause serious illness in younger age groups. However, the emergence of an inflammatory condition associated with COVID-19 has complicated initial assessment. We present a summary of how the virus has affected children with a synopsis of testing and treatment to help acute paediatricians make informed decisions.

Congenital adrenal hyperplasia with salt-wasting crisis and arrhythmia: a case study.

We report a case of a 10-day-old male infant who presented to the emergency department with severe electrolyte imbalance and life-threatening arrhythmia. The parents reported a 3-day history of poor feeding and lethargy. On examination, he was bradycardic (heart rate of 65 beats/min) with signs of dehydration. His ECG showed broad complex bradycardia. Blood gas showed metabolic acidosis with hyponatraemia and hyperkalaemia. A probable diagnosis of congenital adrenal hyperplasia (CAH) with salt-wasting crisis was made and treatment was commenced. He was given saline bolus, nebulised salbutamol, calcium gluconate and hydrocortisone. Following the above interventions, his heart rate rose to 150 beats/min with a regular sinus rhythm within a period of 40 min. The diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. He was discharged home with hydrocortisone, fludrocortisone and sodium chloride.

Intrafamilial Phenotypic Variability and Consequences of Non-Compliance with Treatment in Congenital Adrenal Hyperplasia and Congenital Hypothyroidism within a Single Family
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BACKGROUND: Coexistence of congenital adrenal hyperplasia (CAH) and congenital hypothyroidism (CH) due to TG mutation in the same non-consanguineous family is rare. CASE SERIES: We report 4 siblings born to unrelated parents, the father being an asymptomatic carrier of homozygous p.V281L and heterozygous p.I172N CYP21A2 mutations. Sibling 1 had salt-wasting CAH (CYP21A2 genotype Intron 2 splice/p.I172N and p.V281L). She also had CH (TG genotype p.R296/ p.T1416Rfs*30) and learning difficulties. Poor compliance and morbid obesity resulted in short stature, precocious puberty, hirsutism, amenorrhoea, insulin insensitivity and a possible adrenal adenoma. Sibling 3 (CYP21A2 and TG genotype similar to sibling 1) is a boy presenting with salt-wasting CAH, CH, and developmental delay. He was overweight and underwent precocious puberty. Although siblings 2 and 4 (both females) share the same CYP21A2 genotype (Intron 2 splice/p.V281L), the former only had biochemical evidence of CAH, while the latter presented at 9.8 years of age with a history of pubarche at 7 years and advanced bone age. CONCLUSIONS: We report the unusual occurrence of 2 rare autosomal recessive diseases, CAH and CH. Our cases highlight the phenotypic variability of CAH and CH due to TG mutations, even within a single family, and illustrate the importance of optimal disease control.
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Paradoxical hypoglycaemia associated with diazoxide therapy for hyperinsulinaemic hypoglycaemia.

BACKGROUND/AIMS: Hyperinsulinaemic hypoglycaemia (HH) is the most common cause of severe and persistent hypoglycaemia in the neonatal period. Diazoxide, a KATP channel activator, is the first line of treatment for patients with HH. METHODS: We present 2 cases diagnosed with HH in the neonatal period. Both were started on diazoxide as the first line of treatment and the dose was titrated in order to achieve euglycaemia. RESULTS: When the dose of diazoxide was increased to 15 mg/kg/day, we noted that both infants had increased frequency of hypoglycaemic episodes associated with an increase in the intravenous glucose infusion rate required to maintain normoglycaemia. When the diazoxide was stopped, the intravenous glucose infusion rate decreased and the frequency of hypoglycaemic episodes significantly reduced. The period between the increase in the dose of diazoxide and the onset of increased episodes of hypoglycaemia varied from 12 to 48 h. CONCLUSION: We report for the first time that diazoxide can cause paradoxical hypoglycaemia when used in moderate to high doses in infants with HH. Our clinical observations support the recent in vitro observations on pancreatic tissue isolated from patients with HH, where diazoxide caused an unanticipated increase in insulin secretion. These observations have important implications for managing patients with HH.