Eating disorders (EDs) are complex medical conditions that pose a considerable health burden for individuals with type 1 diabetes mellitus (T1DM). EDs in individuals with T1DM are linked to poor metabolic control, which heightens the risk of diabetes complications. Consequently, regular screening for EDs is essential. This study investigates the prevalence of EDs in adolescents with T1DM, investigating the associations with diabetes duration, pubertal stage, glycemic control, and diabetes-related complications. In this cross-sectional study, 350 adolescents (155 males, 195 females) with T1DM, aged 12–18, were recruited from Mansoura University Children’s Hospital. Participants completed the Diabetes Eating Problem Survey-Revised (DEPS-R) questionnaire, with scores ≥ 20 prompting clinical interviews to confirm EDs. Clinical data, including HbA1c, BMI, and body composition, were analyzed. Socioeconomic status (SES) and family factors were assessed. The prevalence of EDs was 22.6%, including other specified feeding or eating disorders (OSFED) (68.4%), binge eating (11.4%), bulimia nervosa (7.6%), avoidant restrictive (7.6%), and anorexia nervosa (5.1%). Binary logistic regression analysis showed that the significant predictors of ED in the study cohort were diabetes duration (OR = 1.75 (1.66–1.84), p < 0.001), and HbA1c (OR = 5.94 (2.4–14.6), p < 0.001). Conclusions: Adolescents with EDs had higher (SES), more family conflicts, longer diabetes duration, and were more prone to diabetic nephropathy and poor glycemic control. Screening for EDs is recommended from pre-adolescence through early adulthood. What Is Known: •  Adolescents with T1DM are more vulnerable to develop EDs compared to their peers without T1DM What Is New: •  The DEPS-R and DSM-V were useful clinical tools for screening and for diagnosis of EDs respectively among  adolescents with T1DM •  We advise to screen for EDs in adolescents with T1DM who aged around 13.6 years, at Tanner stage 3, with duration of T1DM >5 years, and/or with HbA1c >7.5%

Peroxisomal disorders (PDs) are a diverse group of inherited conditions arising from impaired function of a specific peroxisomal enzyme, metabolite transporter, or defect in the peroxisome biogenesis system. Peroxisomal D-bifunctional protein (DBP) deficiency is generally classified as a Zellweger-like syndrome. This disorder is caused by mutations in the HSD17B4 gene, and only a limited number of confirmed cases have been reported to date. The authors report case of a 6-mo-old female infant presenting with neonatal-onset intractable seizures, characteristic facial features, hypotonia, and progressive hepatomegaly. An acylcarnitine profile revealed elevated very long-chain fatty acids, prompting the initiation of a medium-chain triglyceride (MCT) formula. Remarkably, this treatment led to seizure control, improved muscle tone, and a reduction in liver size. Whole exome sequencing identified a homozygous missense mutation in the HSD17B4 gene (c.1444A>T). This case suggests that MCT-containing formulas may offer therapeutic potential in the treatment of D-bifunctional protein deficiency.

Neurofibromatosis type 1 (NF1) is an autosomal dominant syndrome caused by mutations in the NF1 gene. Although cardiac abnormalities have been observed in NF1, they are frequently overlooked due to a lack of routine cardiac surveillance. Myocardial strain imaging offers a sensitive and non-invasive method for detecting early subclinical myocardial dysfunction. This study aims to detect cardiac abnormalities in children with NF1 using conventional echocardiography, Doppler tissue imaging (DTI), and myocardial strain analysis. A case–control study was conducted on 38 asymptomatic children with clinically confirmed NF1 and 35 healthy, age- and sex-matched controls. All patients underwent ECG, conventional echocardiography, DTI, and two-dimensional speckle-tracking echocardiography. NF1 patients showed significantly decreased ejection fraction ( p = 0.0009) and higher interventricular septal and posterior wall thickness during systole ( p < 0.0001). DTI revealed reduced mitral systolic (Sm) and early diastolic (Em) velocities, longer isovolumic contraction and relaxation periods, and increased LV Tei index values ( p < 0.0001), indicating combined systolic and diastolic dysfunction. Also, myocardial strain analysis in NF1 children revealed considerably lower peak systolic left ventricular global longitudinal strain (LVGLS) ( p 0.0014), as well as lower peak systolic septal and lateral wall strain values ( p 0.0046, 0.0027), respectively. Conclusion : Children with NF1 show early subclinical myocardial dysfunction, even when there is no hypertension or overt cardiac symptoms. These findings highlight the significance of frequent echocardiographic screening, including strain imaging, for the early diagnosis and longitudinal monitoring of heart function in NF1 children. What is Known: • Neurofibromatosis type 1 (NF1) is a multisystem syndrome that can involve the cardiovascular system. • Previous studies showed hypertrophic cardiac changes in NF1 patients, but data in children, especially those without hypertension, are limited, as routine echocardiography is not involved in NF1 management. What is New: • Our study revealed early subclinical myocardial dysfunction in NF1 children without the presence of hypertension or overt cardiac symptoms. • This emphasizes the potential of myocardial strain imaging as a sensitive tool for early detection of myocardial dysfunction in NF1 children, thereby supporting the need for routine echocardiographic surveillance in these patients.

Neonatal screening of phenylketonuria (PKU) and early treatment are fundamental to prevent mental retardation in children. Unfortunately, it has been observed that some neurological sequelae may still be exhibited despite these preventive strategies. Assessment of the neurodevelopment of early treated children may aid in understanding the devastating effect of PKU on the developing brain, so this study aimed to investigate the neurodevelopmental outcome of early-treated children with PKU using Griffiths-III developmental scales. We conducted an observational single-center case-control study on a total of 60 children. We compared the neurodevelopmental profile of two groups of children (PKU group = 30 and healthy control group = 30) using Griffiths-III developmental scales. Also PKU children were divided into two subgroups according to their phenylalanine level: controlled and uncontrolled. There were significant decreases in the mean of developmental quotients (DQs) of Griffiths-III subscales A, B, C, D, and general development of PKU group. While there was insignificant difference in the DQ of subscale E (gross motor) among the two groups, there was a significant difference between the two PKU subgroups regarding the developmental quotient of subscales A, B, C, E, and general development. Also, there was a statistically significant correlation between phenylalanine (Phe) levels and the mean of DQs of all Griffiths-III subscales. Conclusion : Early- treated PKU children are at risk of poor neurodevelopmental outcome even if their gross motor function is normal and this defect is negatively correlated with phenylalanine levels. What is Known: • PKU is an inborn error of metabolism that causes mental retardation if not treated early .• Neonatal screening and early treatment prevent mental retardation . What is New: • Despite neonatal screening and early treatment, PKU children still exhibit mental function impairment .• The Griffiths III developmental scales is the first time to be used to assess mental functions in PKU children .

Phenylketonuria is the most common heritable metabolic disorder. Early detection through newborn screening and proper nutritional management are essential for preventing neurodevelopmental complications. This study aims to describe the epidemiological profile of PKU in Egypt, assess the impact of early diagnosis, and examine the relationship between dietary adherence and comorbidities, including developmental and growth impairment. This is a multicenter retrospective cross-sectional study conducted in four university hospitals in Egypt between January 2024 and January 2025. A total of 365 patients with PKU aged 0–18 years were included. Data on demographics, phenotype classification, complications, and diet adherence were collected. We found that the most common PKU phenotype was classic PKU (36.3%). Early diagnosis through NBS was reported in 67.7%, and dietary adherence in 79.5%. Developmental delay was significantly lower in early-diagnosed children (3.2%) than in late-diagnosed children (100%). BH4 deficiency (1.6%) was associated with developmental delay and epilepsy despite early diagnosis. Diet adherence was linked to lower phenylalanine levels and fewer complications. Neurodevelopmental problems in PKU were decreased by the national NBS program. Better results depend on early diagnosis, diet adherence, and awareness of BH4 deficiency. Diet non-adherence not only worsens neurodevelopmental outcomes but also negatively affects growth parameters in these children.

Background: Neurofibromatosis Type 1 (NF1) is a multisystem genetic disorder that may impact psychological well-being in children. This study aimed to assess behavioral problems and functional competence in children with NF1 and examine the associations of these problems with disease severity and lesion visibility. Methods: A case-control study was conducted with 38 children diagnosed with NF1 and 38 ageand sex-matched healthy controls. All participants underwent an assessment using the Arabic version of the Child Behavior Checklist (CBCL). Clinical severity and lesion visibility were rated using the Modified Ablon Scale. Results: Children with NF1 showed significantly higher scores in anxiety, attention problems, and social difficulties scales of the CBCL ( p < 0.001), along with greater scores on the internalizing and externalizing problem scales. Total competence scores, including school performance, social adaptation, and activities, were significantly lower in the NF1 group. Visibility and severity of physical lesions were positively correlated with behavioral problems and negatively correlated with competence. DSM-oriented scales revealed a higher prevalence of ADHD, affective symptoms, and PTSD-related complaints in the NF1 group. Conclusion: These findings highlight the need for early psychological evaluation and multidisciplinary care strategies to support mental health and quality of life in this vulnerable group. Impact: This study provides the first controlled data on emotional and behavioral problems in Egyptian children with NF1 using a validated Arabic CBCL tool. Children with NF1 showed more frequent internalizing, externalizing, and DSM-oriented psychiatric symptoms compared with healthy peers. Greater clinical visibility and severity of NF1 were associated with increased behavioral difficulties. Routine psychological screening and multidisciplinary management are mandated in children with NF1.