BackgroundOverburdened healthcare systems during the coronavirus disease (COVID-19) pandemic led to suboptimal chronic disease management, including that of pediatric type 1 diabetes mellitus (T1DM). The pandemic also caused delayed detection of new-onset diabetes in children; this increased the risk and severity of diabetic ketoacidosis (DKA). We therefore investigated the frequency of new-onset pediatric T1DM and DKA in Saudi Arabia during the COVID-19 pandemic and compared it to the same period in 2019.MethodsWe conducted a multicenter retrospective cohort study, including patients aged 1–14 years admitted with new-onset T1DM or DKA during the COVID-19 pandemic (March–June 2020) and the same period in 2019. We assessed factors including age, sex, anthropometric measures, nationality, duration of diabetes, diabetes management, HbA1c levels, glycemic control, cause of admission, blood gas levels, etiology of DKA, DKA complications, length of hospital stay, and COVID-19 test status.ResultDuring the lockdown, 106 children, compared with 154 in 2019, were admitted to 6 pediatric diabetes centers. Among the admissions, DKA was higher in 2020 than in 2019 (83% vs. 73%; P=0.05; risk ratio=1.15; 95% confidence interval, 1.04–1.26), after adjusting for age and sex. DKA frequency among new-onset T1DM and HbA1c levels at diagnosis were higher in 2020 than in 2019 (26% vs. 13.4% [P=<0.001] and 12.1 ± 0.2 vs. 10.8 ± 0.25 [P<0.001], respectively). Females and older patients had a higher risk of DKA.ConclusionThe lockdown implemented in Saudi Arabia has significantly impacted children with T1DM and led to an increased DKA frequency, including children with new-onset T1DM, potentially owing to delayed presentation.
BackgroundMutations in the GLI-similar 3 (GLIS3) gene encoding the transcription factor GLIS3 are a rare cause of neonatal diabetes and congenital hypothyroidism with 12 reported patients to date. Additional features, previously described, include congenital glaucoma, hepatic fibrosis, polycystic kidneys, developmental delay, facial dysmorphism, osteopenia, sensorineural deafness, choanal atresia, craniosynostosis and pancreatic exocrine insufficiency.Case presentationWe report a new case for consanguineous parents with homozygous novel mutation in GLIS3 gene who presented with neonatal diabetes mellitus, severe resistant congenital hypothyroidism, cholestatic liver disease, bilateral congenital glaucoma and facial dysmorphism. There were associated abnormalities in the external genitalia in form of bifid scrotum, bilateral undescended testicles, microphallus and scrotal hypospadias which might be a coincidental finding.ConclusionsWe suggest that infants with neonatal diabetes associated with dysmorphism should be screened for GLIS3 gene mutations.
Rationale:Alström syndrome is an autosomal recessive disorder characterized by hearing loss, blindness, obesity, non-insulin dependent diabetes, and others.Patient concern:A 10 years old Saudi girl, who presented with diabetic ketoacidosis and found to have hearing loss and blindness.Diagnosis:Alström syndrome.Interventions:Multidisciplinary team approach, with echocardiography, hearing test, eye exam and genetic test for Alström syndrome.Outcomes:The patient has retinitis pigmentosa, bilateral hearing loss, double diabetes with weakly positive anti-insulin antibodies and DNA analysis showed novel mutation for Alström syndrome.Lessons:the combination of obesity, diabetes, hearing loss and blindness should alert the physician to test for Alström syndrome.
Rationale: Sotos syndrome is a rare genetic disorder characterized by rapid growth during infancy and childhood; ≥2 SD for height and head circumference; distinctive facial appearance and developmental delay. Ten clinically diagnosed cases have been reported from Saudi Arabia; none of them was genetically confirmed. Patient concerns: A male Saudi patient, who had a birth length and head circumference above 97th centile, presented with abnormal rapid growth, delayed motor and mental milestones, aggressive behavior, obsession to close doors, nail biting, defective attention, and hyperactivity. Diagnoses: Sotos syndrome was suspected Interventions: Molecular genetic analysis for NSD1 gene was carried for the patient. Outcomes: A novel heterozygous deletion of all exons 1 to 23 of the NSD1 gene was detected. Genetic counseling was carried for the family with extended genetic testing for the parents and his siblings with normal results. Lessons: Despite its worldwide distribution, Sotos syndrome may be under-reported. Besides its characteristic clinical picture, molecular genetic testing is also extremely recommended.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.