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Developmental and epileptic encephalopathies (DEEs), such as SYNGAP1 -related DEE, are marked by severe developmental delays and pharmaco-resistant seizures due to specific genetic variants. This case report focuses on a 9-year-old male with a de novo SYNGAP1 variant (c.1267del, p.Tyr423Metfs*17), illustrating the diagnostic and treatment challenges. Initially experiencing developmental delays and later, misdiagnosed tics, he was diagnosed with epilepsy with eyelid myoclonia at seven. His case includes key SYNGAP1 encephalopathy symptoms: intellectual disability, behavioral issues, and generalized epilepsy resistant to antiseizure medication. The identification of a specific variant adds to our knowledge, suggesting the necessity of considering SYNGAP1 -related DEE for unexplained neurodevelopmental delays and seizures. This case underlines the need for a personalized treatment approach focusing on quality of life and symptom management, advancing our understanding and treatment practices for genetic developmental and epileptic encephalopathy., Competing Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article., (© The Author(s) 2024.)

Background: Retinopathy of prematurity (ROP) is a potentially blinding, retinal neovascular disease. Systemic prolactin accesses the retina to regulate blood vessels. Prolactin is proangiogenic and can be cleaved to antiangiogenic vasoinhibins. We investigated whether circulating prolactin and vasoinhibins associate with incidence and progression of ROP., Methods: A prospective, longitudinal, case-control study covering postnatal weeks 1 to 9 measured serum prolactin, vasoinhibins, and vascular endothelial growth factor (VEGF) weekly in 90 premature infants diagnosed as ROP or control., Results: Prolactin levels were higher in ROP than in control patients before (106.2 ± 11.3 (SEM) vs. 64.7 ± 4.9 ng/ml, postnatal week 1) and during (120.6 ± 10 vs. 84.7 ± 7.5ng/ml, postnatal week 5) ROP diagnosis. Prolactin, but not gestational age, birth weight, Apgar score, sepsis, or ventilation time, correlated with ROP. The relative risk (RR) of developing ROP increased if Prolactin (PRL) levels were higher than thresholds of 80 ng/ml (RR = 1.55, 95% CI: 1.06-2.28), 100 ng/ml (RR = 1.63, 95% CI: 1.14-2.34), or 120 ng/ml (RR = 1.95, 95% CI: 1.41-2.68). Vasoinhibin levels were 39.7% higher (95% CI: 4.5-77.5) in the circulation of ROP than in control patients at postnatal week 1 and similar thereafter, whereas VEGF serum levels were always similar., Conclusion: High serum prolactin and vasoinhibin levels predict and may impact ROP progression.

Background and Aims: Components of metabolic syndrome (MetS) are complications caused by abdominal obesity and insulin resistance (IR). Diagnosis of MetS by clinical indicators could help to identify patients at risk of cardiovascular disease and type 2 diabetes. We undertook this study to propose predictive indicators of MetS in obese children and adolescents., Methods: A cross-sectional study was carried out. After obtaining informed consent and the registration of the study with an institutional research committee, 172 obese patients from an Obesity Clinic, aged 6-15 years, were included. Variables included were waist circumference (WC), glucose, high-density lipoprotein (HDL), triglycerides (TGL), blood pressure, insulin resistance (by homeostatic model assessment HOMA-index), acanthosis nigricans (AN), uric acid, serum glutamic oxaloacetic transaminase (GOT) and alanine transaminase, and hepatic sonogram. International standards for age and sex variables were used. Multivariate analysis was applied., Results: Variables predicted components of MetS in children: HOMA-IR (insulin resistance by HOMA index) was increased by 2.4 in hepatic steatosis, by 0.6 for each unit of SUA (serum uric acid), and by 0.009 for every mg/dL of triglycerides. In adolescents, every cm of waist circumference increased systolic blood pressure by 0.6 mmHg, and each unit of SUA increased it by 2.9 mmHg., Conclusions: Serum uric acid and waist circumference are useful and accessible variables that can predict an increased risk of cardiovascular disease in obese pediatric patients., (Copyright © 2016 IMSS. Published by Elsevier Inc. All rights reserved.)

Aim: To determine the causes of blindness in students attending schools for the blind in Guadalajara city, Mexico and to assess the availability of screening for retinopathy of prematurity (ROP) in local neonatal intensive care units., Methods: Information on causes of blindness was obtained by interview with parents and teachers, review of records and examination. Causes of visual loss in children with a distance visual acuity of <6/60 (ie, severely visually impaired or blind) were determined and classified according to the WHO's classification system for children., Results: Of 153 children in the two participating schools, 144 were severely visual impaired or blind. Their ages ranged from 4 months to 15 years and 58% were female. ROP was the most common cause of visual loss (34.7%), followed by optic nerve lesions (17.4%) and glaucoma (14.6%). 25/59 (42.3%) children aged 0-4 years were blind from ROP compared with 6/32 (18.8%) children aged 10-15 years. 78% of children blind from ROP had psychomotor delay and less than half (46%) had not received treatment for ROP. All five privately funded neonatal intensive care units in the city regularly screen for ROP compared with only four of the 12 units in the public sector., Conclusions: ROP is the leading cause of blindness in children in Mexico despite national guidelines being in place. Health policies promoting primary prevention through improved neonatal care need to be implemented. Advocacy is required so that the time ophthalmologists spend screening and treating ROP is included in their job description and hence salaried.