Quality of Life and Hormonal Impairment in Pediatric Patients With Craniopharyngiomas.

INTRODUCTION: Craniopharyngiomas (CP) are tumors in the sellar region that, despite a high survival rate, are associated with significant morbidity, including hypothalamic, hormonal, and visual dysfunction. This study aimed to assess the quality of life (QoL) in pediatric patients with CP and to evaluate its relationship with various factors, with a focus on the impact of endocrine dysfunction. METHODS: In this observational cross-sectional study, patients with CP aged between 0 and 18 years, currently followed up in a tertiary hospital by a multidisciplinary team, were included. QoL was assessed using the validated PEDS-QL4.0 questionnaire, which was administered to parents. This tool estimates Global QoL (QoL-G), further divided into Physical (QoL-P) and Psychosocial (QoL-PS) dimensions, including Emotional (QoL-Em), Social (QoL-S), and School (QoL-Sc) aspects. In Portugal, the estimated average QoL-G is 79.8, QoL-P is 83.5, and QoL-PS is 78.2. Variables studied included gender, current and diagnostic age, follow-up time, presence of hydrocephalus, hypothalamic involvement, type of resection (total or subtotal), radiotherapy, visual impairment, hormonal deficits, and therapy. RESULTS: The study included 11 patients with a median age of 15.2 years (interquartile ratio (IQR), 9.7-17.9 years) and a mean age at diagnosis of 9.3±4.1 years. Of these patients, 54.5% were male, and 36.4% were obese. Subtotal resection was performed in 72.7% of cases. Hydrocephalus was present in 54.5% of the patients, hypothalamic involvement in 63.7%, radiotherapy was received by 81.8%, and visual impairment was noted in 54.5%. All patients presented with at least one hormonal deficit. The average QoL-G was 69.9±22.5, with QoL-P at 66.9±30.0 and QoL-PS at 70.9±21.4. A worse QoL-S was associated with female gender (p=0.030) and subtotal resection (p=0.048). Worse QoL-G, QoL-P, QoL-Em, and QoL-PS were linked to hypothalamic involvement (p values 0.008, 0.025, 0.015, and 0.009, respectively). Irradiated patients had worse QoL-G (p=0.006). Treatment with sexual hormones enhanced QoL-Global (p=0.035) and QoL-Emotional (p=0.020), while treatment for adrenal insufficiency and diabetes insipidus improved QoL-Emotional (p=0.021 and p=0.013). No significant associations with visual deficit or obesity were found. CONCLUSIONS: Pediatric patients with CP appear to have poorer QoL-G, QoL-P, and QoL-PS compared to the healthy Portuguese population. However, the small sample size limits statistically significant associations with many of these variables. Predictors of worse QoL include female gender, hypothalamic involvement, subtotal resection, and radiotherapy. The results may be biased due to the small sample size, questionnaire administration to parents, and possible inadequacy of the questionnaire for the studied population. There is a need for a more suitable tool to enable a more precise assessment of QoL in these patients.

Symptomatic Subdural Hygroma Following Acinetobacter Meningitis in an Infant.

We present a case of a full-term newborn with prenatal congenital heart disease, admitted to a level III neonatal intensive care unit. After undergoing a surgical palliation procedure, he experienced a complicated recovery, including nosocomial sepsis with isolation of Acinetobacter nosocomialis in both blood and cerebrospinal fluid. Subsequently, he developed focal clonic seizures that were refractory to antiepileptic drugs, and imaging studies revealed the presence of a subdural hygroma. Surgical drainage was performed, resulting in the resolution of the seizures. This report highlights the rare occurrence of Acinetobacter meningitis unrelated to neurosurgery and its progression to subdural hygroma in an infant, emphasizing the importance of recognizing such complications as potential causes of refractory seizures following infectious processes.

Predictors of poor neurodevelopmental outcomes of very preterm and very low birth weight infants.

BACKGROUND: Despite recent improvements, premature infants remain at high risk for long-term morbidity and poorer neurodevelopment, particularly very preterm (VP) and very low birth weight (VLBW). The aim of this study was to describe neurodevelopmental outcomes at two years and identify potential predictors of worse performance. METHODS: In a retrospective cohort, a two-years' neurodevelopmental evaluation was analyzed. Multivariable regressions were used to study the association of perinatal history with neurodevelopmental outcomes. Subjects included VP and/or VLBW born at a Portuguese III-level perinatal center between 2011-2017. Milestones outcomes were assessed using the Griffiths' Mental Development Scales. RESULTS: One hundred seventy-seven infants were included. Two-years milestones were not achieved in 18.6% in language domain and 7.3% in motor function, 4.5% wore glasses and 1.1% auditory prosthesis/cochlear implant. Almost 30% needed intervention, 18.6% occupational therapy, 16.4% physiotherapy and 13.6% speech therapy. Griffiths' Mental Development Scales was performed in 139, with a mean global quotient of 98.3 and hearing/speech as the least quoted scale. Global development delay (GDD) was present in 14.8% and cerebral palsy in 2.8%. Multivariate analysis by logistic regression adjusted to gestational age, birth weight and confounding variables, revealed a statistically significant association between GDD and hydrocephalus with shunt/reservoir (OR:19.01), retinopathy of prematurity stage ≥2 (OR:7.86) and neonatal sepsis (OR:3.34). CONCLUSIONS: Consistent with recent studies, preterm are at increased risk of neurodevelopmental impairment, mainly due to GDD and language delay, rather than cerebral palsy. In this population, hydrocephalus, retinopathy of prematurity and neonatal sepsis were strongly associated with poorer outcomes. Insight into these factors is essential to refer patients for specific early intervention programs.

Urticaria in a Pediatric Population: A Portuguese Single-Center Cohort Report.

Background Urticaria typically involves the skin and mucosa and is characterized by the development of wheals, angioedema, or both. According to the temporal evolution of the lesions, urticaria is classified as acute (AU) or chronic (CU), depending on whether the episodes last for fewer or more than six weeks, respectively. This study aimed to characterize a group of children and adolescents with urticaria and describe its subtypes, associated comorbidities, treatment, and evolution. Methodology This retrospective, observational study included patients aged <18 years who were diagnosed with urticaria in a tertiary teaching hospital in Portugal, and followed up in a Pediatric Allergy Unit, between January 2019 and December 2021. Results A total of 43 patients, aged nine months to 16 years were included. Of these, 22 (51%) were males. AU was identified in 12 (28%) cases, chronic spontaneous urticaria in 21 (63%), and physical urticaria (to cold) in four (9%). Autoantibodies were detected in four patients with spontaneous urticaria. In 6% of patients with CU, the episodes were associated with angioedema. Most CU episodes were successfully managed with the recommended or double the recommended dose (48%) of H1 antihistamines. Three patients requiring fourfold higher than the recommended dose of H1 antihistamines remained unresponsive and were started on omalizumab. Associated autoimmune thyroiditis was diagnosed in four patients. Conclusions In this cohort of patients, urticaria was equally distributed between the genders and the first-line therapy was second-generation antihistamines, consistent with current guidelines. Universal screening for autoimmune diseases in patients with chronic spontaneous urticaria revealed four cases of thyroiditis, which supports the relevance of this approach when managing CU.

Chest pain in a pediatric emergency department: clinical assessment and management reality in a third-level Portuguese hospital.

Chest pain in children and adolescents is a common complaint in the emergency department (ED), being mostly benign. A thorough patient history and physical examination should be enough in most cases for its proper management. Regarding non-cardiac chest pain, anxiety plays an important role. Methods: Retrospective analysis of all admissions in a pediatric ED of a Portuguese third-level hospital with a chief complaint of chest pain between January and December 2018. Chi-square test was used to compare different etiologies, considering a significance level of 5%. Results: A total of 798 visits were included: 53.6% girls, 80.8% adolescents (mean age: 13years old). According to the Pediatric Canadian Triage and Acuity Scale, 77.7% was prioritized as level IV: less urgent; 65.3% reported associated symptoms including dyspnea (31.8%), cough (18.2%), and palpitations (16.1%). In physical examination, 45.5% had alterations: 62.8% with chest wall tenderness. Further investigation was done in 84% of patients: 62.4% electrocardiograms (altered in 14.7%), 52.6% chest radiographies (altered in 17.1%) and 8.9% cardiac biomarkers (altered in 12.7%). The 3 main causes of chest pain were musculoskeletal (33%), idiopathic (24.4%) and psychogenic (21.6%), with 1.1% of cardiac etiology. Less than 3% needed hospital admission and 18.9% were oriented to an outpatient consultation. 7.1% readmissions reported. When compared to other causes as a group, psychogenic chest pain presented a statistically significant association with female sex, adolescence, psychiatric antecedents, previous stressful event, and normal physical examination. Of these, <30% were oriented to a pedopsychiatry/psychology consultation. Conclusions: Opposing to the low priority level in triage, benign diagnosis found, and low hospital admissions, there was a high percentage of complementary diagnostic tests performed with few altered results. In psychogenic chest pain there was a low postdischarge referral. The authors highlight the importance of clinical algorithms to reduce unnecessary tests performed and readmissions and improve orientation and follow-up, particularly in psychogenic etiology.

Noncystic cerebellopontine angle hemangioblastoma: A case of an atypical location.

INTRODUCTION: Extra-axial cerebellopontine angle (CPA) hemangioblastoma is a rare condition in which the correct differential diagnosis from other CPA lesions can affect the best treatment choice. These are benign tumors that are highly vascularized and mostly present in the cystic form. About twenty-six cases have been reported in the literature with this same location and with a noncystic aspect. PRESENTATION OF CASE: We report a case of a 63-year-old male with a complaint of progressive headache associated with imbalance and difficulty walking. Neurological examination showed discreet facial paresis, left dysmetria and mild gait ataxia. Magnetic resonance imaging (MRI) showed a solid mass with isointensity on T1-weighted sequences; hypointensity and a heterogeneous appearance on T2-weighted sequences; and intense homogeneous contrast enhancement located in the left CPA region extending superiorly to the tentorial notch. The first diagnosis was meningioma, but during the microsurgical suboccipital retrosigmoid approach, it was observed that the lesion was extremely bloody with several vessels on its surface. We achieved gross total resection, and the pathology confirmed hemangioblastoma. DISCUSSION: Although it is rare, hemangioblastoma should be one of the differential diagnoses when dealing with CPA solid lesions with high contrast enhancement and heterogeneity on T2-weighted MRI. Analysis of the radiological characteristics allows a greater chance of confirmation and is one of the main tools for surgical planning. CONCLUSION: Correct preoperative evaluation and the possibility that hemangioblastoma may arise from the CPA can avoid trans-operative risks mainly related to bleeding and can improve results.

Biliary Atresia - Clinical Series.

INTRODUCTION: Biliary atresia is the main cause of death by hepatic failure and the main indication for liver transplant in children. This study aims to analyze the population with this diagnosis, treated between 2000 and 2015 at Hospital de São João. MATERIAL AND METHODS: Descriptive, observational, and retrospective study, including the patients with biliary atresia, diagnosed and treated between January 1, 2000 and December 31, 2015. We analyzed epidemiologic, clinical, biochemical, and image data, as well as registered complications and present status. RESULTS: Eighteen patients were evaluated. The median age at time of Kasai portoenterostomy was 63 days of life, with better prognosis for those patients who had surgery before 72 days. The procedure was successful in 2/3 of cases. There was a significant association between recurrent cholangitis and survival. Five cases of transplant and 2 deaths, one of them after transplant, were registered. Survival with native liver was 77.8%, 72.2%, and 64.2% at 1, 5, and 10 years of follow-up, respectively. DISCUSSION: The presentation and evolution of patients was similar to other studies. However, there was a higher surgical success and survival rates at 5 and 10 years of follow-up than most series. Age at surgery and recurrence of cholangitis were the only factors significantly related to prognosis. CONCLUSION: In spite of the low number of patients (1,125/year), our results were similar to those of other reference centers.

INTRODUÇÃO: A atresia das vias biliares representa a principal causa de morte por insuficiência hepática e a principal indicação para transplante hepático em idade pediátrica. O objetivo deste estudo é analisar a população com este diagnóstico, tratada entre 2000 e 2015 no Hospital de São João. MATERIAL E MÉTODOS: Estudo descritivo, observacional e retrospetivo, incluindo-se doentes com atresia das vias biliares diagnosticados e tratados entre 1 de Janeiro de 2000 e 31 de Dezembro de 2015. Foram analisados dados epidemiológicos, clínicos, bioquímicos, imagiológicos, idade à data da cirurgia, complicações ocorridas e o estado atual. RESULTADOS: Foram avaliados 18 doentes. A idade mediana à data da portoenterostomia de Kasai foi de 63 dias de vida, verificando-se um melhor prognóstico nos pacientes operados antes dos 72 dias. Foi constatada drenagem biliar adequada em 2/3 dos casos aos 6 meses. Verificou-se uma associação significativa entre a ocorrência de episódios recorrentes de colangite e a sobrevida. Registaram-se 5 transplantes e 2 óbitos, um dos quais pós-transplante. A sobrevida com fígado nativo foi de 77.8%, 72.2% e 64.2% ao 1º, 5º e 10º anos de seguimento, respetivamente. DISCUSSÃO: A apresentação e evolução dos pacientes coincidiu, de um modo geral, com o descrito na literatura. No entanto, constatou-se uma taxa de sucesso operatório e de sobrevida com fígado nativo aos 5 e 10 anos superiores à maioria das séries. A idade à data de cirurgia e a recorrência dos episódios de colangite foram os únicos fatores que se mostraram significativamente relacionados com o prognóstico. CONCLUSÃO: Apesar do número reduzido de doentes (1,125/ano), foram registados resultados comparáveis a outros centros de referência.