Pediatric Reports

Background: The term congenital diaphragmatic eventration (CDE) refers to an anatomical abnormality of the diaphragm. It is a very rare condition; however, early and prompt diagnosis is of very great importance due to possible life-threatening complications. Most severely affected patients are neonates, usually presented with respiratory distress symptoms. The aim of this study was to systematically review the existing literature and to consolidate data on CDE in neonates as well as to report a case of a neonate with congenital diaphragmatic eventration of the left hemidiaphragm and clinical signs and symptoms of the gastrointestinal tract. Methods: An electronic search of the PubMed and Scopus databases was performed regarding studies evaluating the clinical presentation, diagnosis methods, treatments, and outcomes of CDE in the neonatal population. Results: Data from 93 studies were integrated into our review, reporting 204 CDE cases, and according to them, the male/female ratio was 1/1 with a predominance of right-sided eventration. The diagnosis was primarily established by chest X-ray; surgical intervention was the most frequent treatment. The recurrence rate was 8.3% (9/109 cases). Conclusions: Early and accurate diagnosis of CDE and repair of the diaphragm can prevent complications, reduce morbidity, and improve the quality of patient’s life. Full article

Introduction: Birth defects are a significant concern since they can lead to permanent disability and death. This study comprehensively reviews the prevalence and patterns of birth defects in Saudi Arabia. Methods: A systematic analysis of the literature retrieved from three databases (Pub Med, Science Direct, and the Saudi digital library) published between 1989 and 2022 was performed. Observational studies that addressed the prevalence and patterns of birth defects in Saudi Arabia were chosen based on the eligibility criteria, while systematic reviews, review articles, non-relevant articles, and studies that did not fulfill the eligibility criteria were excluded. Quality and risk of bias were evaluated based on the JBI and GRADE tools, respectively. Results: We identified 26 eligible publications of 1277 records that included 297,668 patients from different regions of Saudi Arabia. The highest overall prevalence of birth defects was 46.5 per 1000 live births compared to a lowest rate of 8.6 per 1000 in one study. Several studies have reported positive associations of consanguinity, maternal folic acid supplementation, family history of birth defects or genetic abnormalities, and maternal co-morbidities. The most frequent birth defects include cardiac, genitourinary, craniofacial, and nervous system defects. Conclusion: Robust findings have improved our understanding of the prevalence and pattern of birth defects in Saudi Arabia. Importantly, future studies will likely require multicenter collaboration to arrive at appropriate sample sizes in the context of the effects of risk factors on elevated prevalence. Furthermore, quantitative data require careful evaluation in more complex statistical models. Full article

Dental office protocols to combat the SARS-CoV-2 (COVID-19) pandemic include mouth washing for an extended 60 s, thereby reducing detectable oral virus. However, it is unclear whether this protocol has any effects on the newly identified periodontal pathogen and obesity-related bacterium often found among pediatric patients, Selenomonas noxia. To determine if the mouthwash protocol has any measurable effect on S. noxia amongst pediatric patients, clinical pediatric saliva samples were obtained from pediatric patients during routine visits for clinical care and treatment. Using an approved protocol, two saliva samples were collected on the same visit before and after chlorhexidine mouthwash (Sample A, Sample B). The third sample (Sample C) was taken at the recall appointment—usually between two and eight weeks later. A total of n = 97 pre-mouthwash samples, and an equal number of matching post-mouthwash samples (n = 97) were collected, with a small number of matching recall samples (n = 36) that were subsequently collected and identified. The demographic composition of the study sample was analyzed using Chi square statistics. Sample DNA from the matching pre-, post-, and recall collections (Sample A, Sample B, and Sample C) was isolated and screened using qPCR and validated primers, which revealed that 11.1% (n = 4/36) from Sample A tested positive for S. noxia with 0% (n = 0/36) of Sample B testing positive and 13.9% (n = 5/36) of the recall (Sample C) testing positive. In addition, comparative analysis of the qPCR cycle threshold data revealed relatively lower expression (quantity) of S. noxia DNA among the recall samples, as determined by two-tailed t-tests (p=0.004). These data and results provide new evidence for the oral prevalence of S. noxia among pediatric patients, while also demonstrating that the COVID-19 protocol of mouth washing prior to clinical treatment for periods extending up to 60 s may be sufficient to reduce the levels of detectable S. noxia—at least temporarily. More research will be needed to determine whether these effects may be limited to the short- or may exhibit more lasting effects in the long-term. Full article

Recently, motorized mobility devices (or power mobility devices (PMDs)) have been introduced for infants and toddlers who lack the means for self-mobility. Previous reports have primarily focused on PMDs for individuals with cerebral palsy. Few have explored PMDs for individuals with neuromuscular diseases who have intellectual disabilities. This report presents a case study of the early introduction of a PMD for an infant with Fukuyama congenital muscular dystrophy and presents the results of an interview with the father regarding psychological aspects and the child’s manipulative abilities. The PMD was introduced at the age of 1 year and 10 months, and the changes during the 19 months after the introduction were evaluated six times, using the Assessment of Learning Powered mobility use tool (ALP). A semi-structured interview with the father was conducted 19 months after the introduction. The ALP evaluation and the interview were conducted by one physical therapist and two physical therapy students, and the results were shared with the hospital’s physical therapist and nurses at the nursing facility. This report provides a basis for expanding the scope of PMD use and for considering the family’s involvement, especially for the child. Full article

Takotsubo cardiomyopathy is an uncommon clinical entity in children, resulting in severe but sometimes reversible systolic dysfunction of the left ventricle. This condition is triggered by multiple emotional or physical stressors, while neurogenic stress cardiomyopathy after brain injuries has become increasingly recognized in children over the past few years. We report the case of an 11-year-old child with an atypical clinical presentation after a serious car crash accident. An initial computed tomography scan revealed an acute epidural hematoma, which was immediately treated by an emergency craniotomy. During the patient’s following pediatric intensive care unit hospitalization, severe hemodynamic instability was observed, leading to gradually higher doses of vasopressors for circulatory support. On echocardiography, the patient had signs of severe cardiac contractility compromise, with characteristic pattern of regional wall motion abnormalities of the left ventricle, which, in combination with seriously elevated cardiac enzymes, electrocardiographic (ECG) abnormalities and continuous thermodilution hemodynamic monitoring (PICCO) findings, led to intensification of inotropic support and to the diagnosis of takotsubo cardiomyopathy. Despite supportive measures, the patient developed multiorgan failure and succumbed to their serious illness. For this atypical case, extracorporeal membrane oxygenation (ECMO) was addressed as an option for the seriously failing heart, but due to the extremely high risk of intracranial bleeding, it could not be used for this patient’s treatment. In conclusion, Takotsubo cardiomyopathy should be suspected in pediatric cases of cardiac dysfunction after serious injuries or stress conditions. Full article

This paper grants some considerations on a critical phenomenon for child health: child neglect. It is an omission-type form of childhood maltreatment, which is widespread but very hard to intercept. For the assessment of child neglect, the Italian Society of Pediatric Psychology (S.I.P.Ped.) has developed and validated a specific assessment technique (the C.N.A. technique). It is supposed to be for parents of children between 3 and 9 years old. It is based on a paradigm that identifies the dysregulation of parental competence as the cause of neglect. It can occur in hypo- or hyperactivation of three fundamental factors (recognition, stimulation, and care). The child neglect assessment technique (C.N.A.) differs from the retrospective tools available in the literature since it allows for interception of the “signs” of possible child neglect when negligence occurs. Full article

Background: Psychomotor development is the most important outcome determining the proper growth and development of children. Optimizing childcare and modifying risk factors can provide the child with the best conditions to realize their developmental potential. The study aimed to assess the impact of the feeding method on the psychomotor development of full-term children at 12 months of age with Munich Functional Developmental Diagnostics (MFDD). Methods: The study included 242 full-term children who were examined at 12 months of age by a child neurologist using MFDD. The children were divided into two groups depending on the feeding method: breastfed (146) vs. formula-fed (93). We analysed selected obstetric and neonatal risk factors as well as MFDD scores within the groups. Results: The only axis on the MFDD scale on which we observed a difference between the groups was social skills. No differences were noted between the groups in the analysis of the gross and fine motor skills, with regard to perception or active and passive speech. Conclusions: The full-term, exclusively breastfed infants over their first 6 months of age or longer have greater social skills in comparison with the formula-fed infants when measured on the MFDD axis. Full article

Recombinant human insulin plays an important role in the gut maturation of preterm infants. This meta-analysis was carried out to assess the efficacy and safety of enteral recombinant human insulin in decreasing the time to full enteral feeding in preterm infants. The pooling of data from four clinical trials yielded a significant decrease in the time to full enteral feeding in preterm infants under both low (Mean difference [MD] −3.43 days; 95% CI: −6.18 to −0.69 days; I2 = 48%) and high doses of insulin (MD −7.10 days; 95% CI: −10.02 to −4.18 days; I2 = 0%). These findings require confirmation by further large trials that evaluate the efficacy and safety of enteral insulin, especially at supraphysiological doses. Full article

Objective: In Ecuador, studies on clinical daily practice problems focused on parenteral nutrition in neonates are scarce. Therefore, this research aimed to identify negative results associated with medications (NRAM) in neonates with parenteral nutrition (PN) in a third-level hospital in Ecuador. Material and methods: An observational, prospective, descriptive study was designed in the neonatology area of a tertiary-level public hospital, where, for over four months, the medical records, PN prescriptions, and pharmacy-managed databases of 78 patients were analyzed. Drug-related problems (DRPs) as possible causes of NRAM were classified through administrative, physicochemical, and clinical validation. Results: DRPs classified as follows were found: 78.81% by physicochemical, 17.62% by clinical, and 3.57% by administrative validation. The NRAM were 72% quantitatively uncertain, 16% needed, and 11% quantitatively ineffective. Conclusion: The NRAM associated with DRPs were statistically related to prematurity condition, APGAR score, PN time, and the number of medications administered, which suggests the need to create a nutritional therapy committee at the health facility. Full article

For many children, hospitalization can lead to a state of increased anxiety. Being away from home, the invasive procedures undertaken, and the uncertainty of the outcome cause an uncomfortable situation in anticipation of real or imagined hazards. This systematic review aims to assess current evidence on the types of non-pharmacological interventions used and their impact on children’s anxiety or distress levels when they visit the hospital for planned or unplanned admissions. The Databases PubMed, Psych INFO, and Google Scholar were queried for papers published from January 2000 to March 2023 reporting the use of non-pharmacological interventions interacting with children in hospital or clinical environments and confirmed with saliva cortisol levels. A total of nine studies were retrieved. Across these studies, four different strategies of non-pharmacological interventions were used. Anxiety and distress were found to be reduced in the majority of the studies as confirmed with salivary cortisol. Overall, there is evidence that non-pharmacological interventions hold a promising role in reducing levels of anxiety or distress in children as confirmed with saliva cortisol. However, research on saliva cortisol as a tool of anxiety measurement requires higher quality studies to strengthen the evidence base. Full article

Multisystemic inflammatory syndrome (MIS-C) is an inflammatory condition temporally associated with COVID-19 in children; nevertheless, the clinical and immunologic spectrum of MIS-C is heterogeneous, and its long-term effects are unknown. During the period of August 2020 to December 2021, a total of 52 MIS-C cases were confirmed in pediatric patients from the Hospital del Niño DIF Hidalgo, diagnosed using criteria from the World Health Organization. All patients had serologic IgG confirmation of SARS-CoV2, the mean age of the patients was 7 years, and 94% of the patients did not have a previous underlying disease. In addition to the presentation of lymphopenia, neutropenia, and thrombocytopenia, elevations in D-dimer and ferritin levels were observed in all patients. There was clinical improvement with intravenous gamma globulin and corticosteroid treatment. Full article

Central nervous system (CNS) involvement in anaplastic large cell lymphoma (ALCL) at diagnosis is rare and leads to poor prognosis with the use of the standard ALCL99 protocol alone. CNS-directed intensive chemotherapy, such as an increased dose of intravenous MTX, increased dose of dexamethasone, intensified intrathecal therapy, and high-dose cytarabine, followed by cranial irradiation, has been shown to improve survival in this population. In this paper, the authors describe a 14-year-old male with an intracranial ALCL mass at onset who received CNS-directed chemotherapy followed by 23.4 Gy of whole-brain irradiation. After the first systemic relapse, the CNS-penetrating ALK inhibitor, alectinib, was applied; it has successfully maintained remission for 18 months without any adverse events. CNS-penetrating ALK inhibitor therapy might prevent CNS relapse in pediatric ALK-positive ALCL. Next-generation ALK inhibitors could be introduced as a promising treatment option, even for primary ALCL with CNS involvement, which could lead to the omission of cranial irradiation and avoid radiation-induced sequalae. Further evidence of CNS-penetrating ALK inhibitor combined therapy for primary ALK-positive ALCL is warranted to reduce radiation-induced sequalae in future treatments. Full article

Background: Acute kidney injury occurs commonly in the Neonatal Intensive Care Unit and is associated with increased mortality and morbidity. We report a case of a neonate with congenital heart disease who developed acute kidney injury after cardiac surgery, administration of iodinated contrast media for cardiac catheterization, and a combination of nephrotoxic drugs. Case report: A term neonate without a prenatal diagnosis of congenital heart disease and with a good postnatal transition was transferred at 13 days of life to the MS Curie Emergency Hospital for Children, Newborn Intensive Care Unit, from a regional hospital where he was admitted at 10 days of life with severe general status, respiratory distress, cyanosis, and arterial hypotension. The cardiac ultrasound detected critical aortic valve stenosis, hypoplastic descending aorta, acute heart failure, and pulmonary hypertension. The patient was intubated and mechanically ventilated and received antibiotherapy (meropenem, vancomycin, and colistin), inotropic and vasoactive support (epinephrine, norepinephrine, dopamine, and milrinone), and diuretic support (furosemide, aminophylline, and ethacrynic acid). A balloon aortic valvuloplasty was performed several hours after admission, but after two days the patient required reintervention by open heart surgery due to relapsing severe aortic stenosis. He developed oligo-anuria, generalized edema, and altered renal function tests on the second postoperative and fourth day post-contrast media administration. Continuous renal replacement therapy was initiated for 75 h, leading to almost instant improvement in blood pressure, then diuresis and creatinine levels. The patient required long-term treatment for heart, respiratory, and liver failure. He was discharged at almost four months of age with normal renal function tests, blood pressure, and good urine output without diuretic support. The literature review indicates that contrast-associated acute kidney injury (CA-AKI) requiring continuous renal replacement therapy is rare. Conclusions: Our current case proves that iodinated contrast media administration in a neonate with concomitant insults, such as cardiac surgery for a specific pathology, aortic stenosis, coarctation, arch stenosis, arterial hypotension, and administration of nephrotoxic drugs, may lead to severe kidney injury. Full article

Background: Despite the serious consequences of shaken baby syndrome (SBS), previous studies revealed a low level of knowledge among Saudi parents. Methods: This is a cross-sectional study. An electronic questionnaire was distributed through social media platforms to parents of pediatric age group children in Jeddah, Saudi Arabia. A total of 524 responses were received. Data about participants’ demographics, knowledge, attitude, and practice regarding SBS were collected through convenient random sampling. Results: A total of 524 responses were received; 30.7% of the participants were familiar with SBS. The Internet and the social media platforms were the most common sources of information. There was no statistically significant correlation between knowledge levels and participants’ sociodemographic factors; only 32.3% of individuals had good knowledge. Of them, 84% had a positive attitude towards learning more about SBS, and 40.1% and 34.3% were interested in learning more about SBS before and during pregnancy, respectively. Carrying the baby and shaking were the actions most frequently taken when a baby was crying. Of them, 23.9% forcefully shake their child, while 41.4% of them throw their infant up in the air and catch it. Conclusions: It is important to conduct health education programs on SBS for mothers throughout the prenatal period. Full article

Idiopathic pulmonary arterial hypertension (IPAH) is an uncommon and severe disease. We report the case of a 7-year-old boy investigated for cardiac murmur and exercise intolerance. Pulmonary hypertension (PH) was suspected at clinical examination and confirmed by echocardiography and cardiac catheterization. This case of pulmonary hypertension was classified as idiopathic given the negative etiological investigation. Vasoreactive testing with oxygen and nitric oxide was negative. Therefore, treatment with sildenafil (1.4 mg/kg/d) and bosentan (3 mg/kg/d) was initiated. This allowed the stabilization of, but not a decrease in, pulmonary artery pressure for the next 5 years, during which the patient’s quality of life was significantly reduced. At a later follow-up, the estimated pulmonary pressure was found to have increased and become supra-systemic, with a consequent deterioration in the child’s condition. This led to the decision to enter him into a clinical trial that is still ongoing. Idiopathic pulmonary arterial hypertension is a severe disease that can present with non-specific symptoms, such as asthenia and exercise limitation, which are important not to trivialize. The disease is associated with significantly decreased quality of life in affected children and carries a high burden in terms of mortality and morbidity. The current knowledge about IPAH in children is reviewed, with a particular focus on the future prospects for its treatment and the related quality of life of patients. Full article

Background: Leclercia adecarboxylata is a Gram-negative bacillus that can rarely cause infections in humans. We recently treated a case of peritonitis due to L. adecarboxylata in a peritoneal dialysis (PD) pediatric patient, and we systematically reviewed all the relevant reported cases in the literature. Methods: We searched the PubMed and Scopus databases, and we reviewed 13 such cases (2 children, 11 adults) that were reported, including our patient. Results: The mean (±SE) age was 53.2 ± 22.5 years, with a male-to-female ratio of approximately 1:1.6. Their mean vintage period on PD prior to L. adecarboxylata peritonitis was 37.5 ± 25.3 months. The VITEK card was the identification diagnostic tool in most cases (63%). The antimicrobial agent that was most frequently used was ceftazidime, which was implemented in 50% of cases as initial therapy, either as a monotherapy or combination therapy; in only two patients (15.3%) was the Tenkhoff catheter removed. The median duration of treatment was 18 days (range of 10–21 days), and all 13 patients that were reviewed were healed. Conclusions: Physicians should be aware that L. adecarboxylata is noted to rarely cause peritonitis in PD patients; however, this pathogen seems to be sensitive to most antimicrobial agents and can result in a favorable outcome with the selection of appropriate treatment. Full article

Bladder blood clots represent an infrequent urinary condition in children. They usually result from hematuria with many underlying causes, such as urinary tract infections and urethral/bladder traumas. Treatment options for clot removal include trans-urethral or suprapubic bladder irrigation and, if unsuccessful, endoscopic management under general anesthesia with a resectoscope. In younger male children, however, the repeated passage of a trans-urethral resectoscope may be challenging and traumatic, due to the small lumen diameter. Eventually, an open surgical approach can be required in many patients. Few anecdotal non-surgical approaches have been proposed for the management of bladder blood clots in children. This review aims to summarize the conservative techniques described in the literature with the instillation of intravesical agents, analyzing the different strategies and their advantages. Full article

This study examined the association between caregivers’ self-rated general health, poor physical/mental health days, disease morbidity and asthma control in children from the United States with current asthma. The data analyzed for this study were obtained from 7522 children aged 0–17 years who participated in the 2012–2014, 2015–2017, 2018, and 2019 cycles of the Behavioral Risk Factor Surveillance System Asthma Call-back Survey (ACBS). We employed univariate analysis to describe the study population and weighted binary logistic regression to examine the association of predictors with asthma control. Approximately 50% of the children had uncontrolled asthma. The results show that caregivers who reported fair general health had a 61% higher likelihood of reporting uncontrolled asthma in their children compared to those who reported good/very good/excellent health (adjusted odds ratio [aOR] = 1.61; 95% confidence interval [CI], 1.14–2.26). Poor caregiver general health did not reach statistical significance in predicting uncontrolled asthma (aOR = 1.05, 95% CI, 0.62–1.75). Furthermore, having 1 to 14 poor physical/mental health days ([aOR] = 1.70; 95% CI, 1.28–2.227) and ≥15 poor physical/mental health days (aOR = 1.82, 95% CI, 1.31–2.53) was predictive of uncontrolled asthma in children. Additionally, endorsing one reported disease (aOR = 1.49, 95% CI, 1.15–1.93) and ≥2 diseases (aOR = 1.38, 95% CI, 1.08–1.78) was associated with uncontrolled child asthma. These findings underscore the association between caregivers’ self-reported general health, poor mental/physical health days, disease morbidity and uncontrolled asthma among children from the U.S. with asthma. Pediatricians and child health practitioners should recall the importance of this relationship. To facilitate the identification of caregivers at risk and provide more comprehensive and effective care for children with asthma, healthcare practitioners should utilize every child asthma care encounter to inquire about the overall health of caregivers. Full article