Identified PAH V230A and PAH V230I mutations in a family with diverse clinical presentations.

Phenylketonuria (PKU) is a hereditary disorder caused by phenylalanine hydroxylase enzyme (PAH) defects that might cause severe brain damage. The current main treatment, dietary management, can prevent the symptoms if commenced early. However, it has side effects if used for a long time. Additionally, some patients with mild hyperphenylalaninemia (mHPA), who has serum phenylalanine levels <360 µmol/L, do not require treatment. Since the correlation between genotype and metabolic phenotype has been demonstrated earlier, genotype-based detection of patients who do not need treatment might help with genetic counseling and choosing the most appropriate treatment option. In this study, we report an asymptomatic adult with mHPA who had never taken any medical intervention to control or lower her serum phenylalanine level (Phe). She had 179 µmol/L serum phenylalanine level and carried p.[V230A];[V230I] genotype. Her child was affected with phenylketonuria and had p.[V230A];[V230A] genotype. Both pathogenic variants detected in the asymptomatic adult with mHPA were computationally analyzed to assess their pathogenicity and the p.V230I pathogenic variant was demonstrated to be responsible for the mHPA phenotype in the asymptomatic adult detected in this study. The findings in this study could contribute to genetic counseling and treatment for families and individuals with p.[V2030I];[V230A] genotype.

Mesenchymal hepatic hamartoma: A rare case of severe respiratory distress in a neonate.

It is critical to consider intra-abdominal pathology in cases of neonatal respiratory distress. Accurate and prompt diagnosis via computed tomography is lifesaving. We have highlighted the effectiveness of rapid surgical intervention as curative.

Endoscopic retrieval of 195 incidentally found ingested magnets in a pediatric patient: The limitations of radiography.

Ingestion of magnetic foreign bodies in children can present elusively on radiographs, requiring detailed history for accurate intervention guidance. Clustering and the weight of multiple magnets may indicate falsely distal positions in the GI tract.

Airway management in a two-year-old child with a tongue tumor using video laryngoscope-assisted flexible bronchoscopic nasotracheal intubation (hybrid technique).

Airway management in children can be challenging. A hybrid technique using a video laryngoscope-assisted flexible bronchoscopic nasotracheal intubation allowed a successful airway management in a two-year-old child with a large tongue tumor.

A rare cause of posterior reversible encephalopathy syndrome: Acute lymphoblastic leukemia.

Key Clinical Message: The presentation of posterior reversible encephalopathy syndrome (PRES) as the initial presenting sign of acute lymphoblastic leukemia is unusual, as PRES is more often a complication of therapy. This case highlights the importance of maintaining a broad differential diagnosis for pediatric hypertension and its complications. Abstract: A 6-year-old male presented with a seizure-like episode. Evaluation revealed hypertension and brain imaging showed findings consistent with posterior reversible encephalopathy syndrome. Complete blood count showed lymphoblasts, and the cause of his hypertension was determined to be renal infiltration of leukemia cells due to B-cell acute lymphoblastic leukemia.

Pseudo-Bartter syndrome in infant with cystic fibrosis screen positive, inconclusive diagnosis: A case report.

The introduction of newborn screening for cystic fibrosis (CF) increased diagnosis of cystic fibrosis screen positive inconclusive diagnosis (CFSPID). We described the case of a 12-month-old boy with CFSPID who, during summer, presented Pseudo-Bartter syndrome with no diagnostic criteria for CF.

Gender bias in pediatric care: Health professionals' opinions and perceptions.

Introduction: Gender bias in healthcare is understood as a misconception of the differences between males and females that may generate healthcare disparities and discrimination against one sex. However, is not well known how this implicit bias is manifested in pediatric clinical praxis. Thus, the goal of this study is to explore and analyse the attitudes of health personnel toward a possible gender bias in pediatric care in Catalonia. Methods: We undertake a descriptive and exploratory study applying a qualitative research methodology based on hermeneutic phenomenology and Grounded Theory using the focus group technique. The opinions collected were classified into four categories and 22 subcategories, and subsequently analyzed. Results: Three main ideas stood out regarding situations that might be affected by gender bias: (1) attitudes of health personnel and perceptions with regard to mental health problems and (to a lesser extent) to physical health problems; (2) the role of the child's family and the professional's assessment of this role; and (3) the professional's attention to children of the opposite sex, especially in the case of genital examinations. Discussion: The results stand out that differential attitudes depending on the gender of the child have been observed in clinical practice in pediatrics, which may have an impact on health inequality. Hence, academic training that includes the study and prevention of implicit biases in professional activity, campaigns aimed at the general population on how to detect implicit biases and promoting gender equity in education, should help to avoid the negative consequences of these misconceptions.

A novel combination of mutations leading to congenital ichthyosis and ichthyosis vulgaris.

Coexistence of TGM1 and FLG mutations in a newborn with congenital ichthyosis is not well described in the literature. Early genetic testing and counseling are crucial for accurate diagnosis and appropriate management. Further exploration of associated problems, including hearing loss and developmental delay, is warranted in patients with these mutations.

Pediatric prognostic models predicting inhospital child mortality in resource-limited settings: An external validation study.

Background and Aims: Prognostic models provide evidence-based predictions and estimates of future outcomes, facilitating decision-making, patient care, and research. A few of these models have been externally validated, leading to uncertain reliability and generalizability. This study aims to externally validate four models to assess their transferability and usefulness in clinical practice. The models include the respiratory index of severity in children (RISC)-Malawi model and three other models by Lowlavaar et al. Methods: The study used data from the Clinical Information Network (CIN) to validate the four models where the primary outcome was in-hospital mortality. 163,329 patients met eligibility criteria. Missing data were imputed, and the logistic function was used to compute predicted risk of in-hospital mortality. Models' discriminatory ability and calibration were determined using area under the curve (AUC), calibration slope, and intercept. Results: The RISC-Malawi model had 50,669 pneumonia patients who met the eligibility criteria, of which the case-fatality ratio was 4406 (8.7%). Its AUC was 0.77 (95% CI: 0.77-0.78), whereas the calibration slope was 1.04 (95% CI: 1.00 -1.06), and calibration intercept was 0.81 (95% CI: 0.77-0.84). Regarding the external validation of Lowlavaar et al. models, 10,782 eligible patients  were included, with an in-hospital mortality rate of 5.3%. The primary model's AUC was 0.75 (95% CI: 0.72-0.77), the calibration slope was 0.78 (95% CI: 0.71-0.84), and the calibration intercept was 0.37 (95% CI: 0.28-0.46). All models markedly underestimated the risk of mortality. Conclusion: All externally validated models exhibited either underestimation or overestimation of the risk as judged from calibration statistics. Hence, applying these models with confidence in settings other than their original development context may not be advisable. Our findings strongly suggest the need for recalibrating these model to enhance their generalizability.

A misdiagnosed laryngeal foreign body causing recurrent wheezing in a pediatric patient: Case report.

Key clinical message: The recurrence of respiratory symptoms without a clear clinical reason in children can be secondary to the presence of an unknown foreign body of the airways. In such cases, endoscopy of the airways is always necessary, regardless of the patient's age. Abstract: The management of foreign bodies of the pediatric airway can be challenging. The clinical presentation may vary and, in case of recurrent respiratory symptoms without a clear clinical cause, the presence of a foreign body of the airway should be suspected. We describe the case of a 13-month-old patient, weight 11 kg, with a misdiagnosed subglottic foreign body causing dysphonia and worsening respiratory distress, removed by means of a direct laryngotracheoscopy in tubeless general anesthesia in spontaneous breathing.

Paraviral bullous eruption in a 7-year-old child during acute Epstein-Barr virus infection: A case report.

We present the case of a child developing widespread vesicle-bullous lesions during an acute and symptomatic Epstein-Barr Virus infection. Antibody serology, biopsy, and direct immunofluorescence allowed the diagnosis of a paraviral bullous eruption. To our knowledge, this is the first report of bullous eruption following Epstein-Barr virus infection in childhood.

More than just mild thrombocytopenia: Clinical clues in the diagnosis of germline predisposition to malignancy from a rare ETV6 variant.

Key Clinical Message: In the evaluation of patients with longstanding mild thrombocytopenia, emphasis on family history, genetic testing, and collaborative clinical and laboratory-based family studies can ensure proper diagnosis and monitoring for malignancies. Abstract: We report the diagnostic approach to mild and non-specific thrombocytopenia with unclear genetic findings in two sisters. Genetic sequencing revealed a rare variant in ETS Variant Transcription Factor 6, which is associated with inherited thrombocytopenia with predisposition to hematologic malignancy. Familial studies provided sufficient evidence for a likely pathogenic classification.

Noninflammatory obstructive appendicopathy: A rare presentation of abdominal pain.

Patients with appendicitis-like abdominal pain but negative laboratory and radiological findings can have rare alternative aetiologies such as obstructive appendicopathy. A normal appendix may be seen in surgery, and removal with consent is curative.

Use of high-flow cannula in pediatric patients with respiratory failure: A prospective cohort study in three high-altitude hospitals.

Background and Aims: Acute respiratory failure (ARF) is a common cause of morbimortality, and a frequent reason for admission to the pediatric intensive care unit (PICU). It requires a high-flow oxygen device as treatment. Our aim is to determine the frequency and main indications for the use of high-flow nasal cannula (HFNC), and the prevalence of HFNC failure and its main causes, in three hospitals. Methods: It is a multicenter prospective cohort study, developed in three hospitals in Bogota. Eligible patients were children older than 1 month and younger than 18 years who presented ARF and required management with an HFNC. The study was carried out between April 2020 and December 2021. The follow-up was carried out at 1, 6, and 48 h after starting the management. Results: Of 685 patients included in the study, 296 developed ARF. The prevalence of patients with ARF who required management with HFNC was 48%. The frequency of the pathologies that cause the ARF was: Bronchiolitis was the most frequent pathology (34.5%), followed by asthmatic crisis (15.5%) and pneumonia (12.7%). The average time of use of HFNC was 81.6 h. Regarding treatment failure with HFNC, 15 patients presented torpid evolution and required invasive mechanical ventilation, with a prevalence of therapeutic failure of the HFNC of 10.6%. Conclusion: The use of HFNC is more frequent in patients with bronchiolitis, in children under 2 years of age and in males, which is in line with what has been reported in the literature. In addition, the failure rate of HFNC is low (10.6%), and it may be useful in other pathologies besides bronchiolitis, such as asthma, pneumonia, among others. It opens the possibility to continue evaluating the role of HFNC in pediatric pathology in new studies.

Omental infarction and anterior wall adhesion presenting as surgical abdomen in a pediatric patient.

Omental infarction is a rare cause of acute abdomen that can present in both the pediatric and adult populations causing adhesions or abscesses. Presentation may mimic appendicitis; however, ultrasonography may not be sufficient. We discuss the importance of CT imaging for the pre-surgical diagnosis to avoid serious port-site injuries.

Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome?

We report on a child with prenatal findings of increased nuchal translucency, polydramnios, ascites, and overgrowth. At birth, she presented length >97° centile, minor facial anomalies, megalencephaly, and Wolff-Parkinson-White syndrome. Whole-exome sequencing showed a pathogenic variant in the NRAS gene, but no mutations were found in PI3K/AKT/mTOR pathway genes.

Omalizumab for the treatment of severe allergic asthma in children: A tale of two.

Omalizumab is a monoclonal antibody which targets immunoglobulin E. It is approved as an add-on therapy for children with severe allergic asthma. Assessment of endotype and phenotype is necessary in order to correctly identify those patients who are most likely to respond to omalizumab. Children with severe asthma represent a complex heterogeneous group. This report outlines the background, management, and outcomes for two children initiated on omalizumab for severe allergic asthma in Children's Health Ireland at Tallaght. It demonstrates the difficulties faced by this cohort and the positive impact targeted biological therapy can have. Given the substantial cohort of children with asthma attending our tertiary center, it also indicates that comprehensive stepwise care can achieve adequate control in the vast majority of cases without the requirement for additional therapies.

Hemoglobin I-Toulouse: A rare hemoglobinopathy presenting with low oxygen saturations.

We report a child with persistently low oxygen saturations (SpO2 90%-92%) [normal SpO2 > 98%], with delayed diagnosis due to the co-existing congenital pulmonary airway malformation with possible arterio-venous malformation. The diagnosis was only achieved after low oxygen saturations incidentally discovered from the child's father. The eventual cause was Hemoglobin I-Toulouse, making both patients the first reported cases with low oxygen saturations.

Intriguing mass associated with cleft palate.

Nasopharyngeal teratomas are rare and represent only 2% of all teratomas. They can lead to an embryopathogenic mechanical obstacle responsible for a cleft palate with few reported cases of this association in the literature. We report the case of a 14-month-old girl with this atypical association.

Masseteric hernia: A case report and literature review.

Mandibular swellings are common, but a hernia of the masseter muscle is a rare condition. This case report describes the case of a young patient presenting a masseter muscle hernia and discusses the management of this condition.