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- Um achado incomum no exame da fontanela anteriorPublication . Pinho, Catarina Marques; Teixeira, Joana Vidal; Nogueira, Antony; da Silva, Ana Ribeiro; Martins, AlexandraIntrodução: A palpação da fontanela anterior permite avaliar o volume e pressão intracranianos. Uma fontanela tensa numa criança tranquila e observada em posição vertical sugere hipertensão intracraniana, que pode ter várias etiologias, nomeadamente processos neoformativos. Caso clínico: Uma lactente do sexo feminino, de dois meses de idade, recorreu a consulta na sua Unidade de Saúde Familiar por tumefação na fontanela anterior. Objetivou-se a presença de tumefação nodular, de consistência mole, com cerca de 1 cm de maior diâmetro. A ecografia transfontanelar revelou um provável quisto epidermoide. A lactente foi referenciada para Cirurgia Pediátrica, tendo realizado ecografia de controlo após dois meses, que revelou crescimento da lesão, motivo pelo qual foi referenciada para Neurocirurgia. Efetuou ressonância magnética encefálica, que confirmou o diagnóstico ecográfico e excluiu comunicação da lesão com estruturas endocranianas. A lactente manteve seguimento por Neurocirurgia e foi decidido manter vigilância até a fontanela encerrar para realização da cirurgia de exérese. O exame histológico confirmou o diagnóstico de quisto dermoide. Discussão:A vigilância clínica e os achados dos exames imagiológicos demonstraram o carácter benigno da lesão, permitindo adiar a intervenção cirúrgica.
- Acromicric dysplasia and hearing loss: A case reportPublication . Pinto, Ana Nóbrega; Coutinho, Miguel Bebiano; Soares, Teresa; Sousa, Cecília AlmeidaIntroduction: Acromicric dysplasia is an extremely rare autosomal dominant bone dysplasia characterized by progressive growth retardation, short hands and feet, mild facial dysmorphism and generalized joint limitation. Association with ear, nose and pharyngolaryngeal alterations has been previously reported. However, little is known about the otolaryngologic aspects that may accompany this disease. We pretend to raise awareness to the otolaryngologic aspects that may accompany acromicric dysplasia and to the possible interventions that improve these patients quality of life.Clinical Case: We present the case of a ten-year-old girl referred to the otorhinolaryngology consultation with complaints of progressive hearing loss. Hearing evaluation confirmed bilateral severe mixed hearing loss and the patient was successfully rehabilitated with bone-anchored hearing aids.Discussion/Conclusions: Evaluation by an otolaryngologist should be part of the management of children with bone dysplasias, especially if they present with associated symptoms, to allow an early diagnosis and proper intervention
- Anterior fontanelle closure time in 684 healthy Portuguese childrenCosta, Ricardo Craveiro; Salgado, Joana Rosmaninho; Oliveira, Daniela; Mendes, Francisca; Silva, Alexandre; Salgado, ManuelIntroduction and Aim: The timing of anterior fontanelle (AF) closure may be a useful marker for early disease detection. However, the few published studies on this topic have reported significant differences in the normal age ranges of AF closure between countries. The aim of this study was to report AF closure time in the Portuguese population during the last two decades.Methods: This was a 21-year retrospective observational study of healthy Portuguese children conducted from January 1999 to December 2019. Data on the age of AF closure were collected by a single pediatrician during outpatient child visits at specific ages (1, 2, 4, 6, 9, 12, 18, 24, 30, and 36 months) and during unscheduled visits due to appointment changes or illness. Clinically closed AF was defined as the absence of a depressible fontanelle on physical examination. AF closure time was calculated as the mean age between the age of the last palpable AF and the age of the first clinically closed AF. Results: A total of 684 children (gestational age ≥37 weeks, birth weight ≥2500 grams) were evaluated, of whom 364 (53.2%) were boys. The mean ± 1 standard deviation (SD) age of AF closure was 14.3 ± 4.9 months (range 2−33 months). The 2.5th and 97.5th percentiles, representing ± 2 SD of AF closure time, were 6 and 25 months, respectively. Other percentiles were P5 - 7 months, P25 - 11 months, P50 - 14 months, P75 - 16 months, and P95 - 22 months. Noteworthy, 0.6% and 3.1% of children had a closed AF at three and six months, respectively, while 2.9% still had an open AF at 24 months. AF closure occurred earlier in males than in females (13.6±4.7 vs. 15.1±5.0, p <0.001). A statistically significant difference was found in the mean ± 2 SD of the gender comparison (p=0.045).Conclusions: This study showed a normal distribution of AF closure age in Portuguese children. The acknowledgment of age-related variations in AF closure timing in different populations is important to raise clinicians’ awareness for timely suspicion and detection of pathologic cases and the need for clinical study.
- Arthrogryposis multiplex congenita affecting a monochorionic diamniotic twin pregnancyPublication . Brás, Rafael; Veloso, Helena; Moleiro, Maria; Rodrigues, Sofia; Inocencio, Gonçalo; Mota, Céu; Soares, Gabriela; Rodrigues, Maria Céu; Braga, JorgeArthrogryposis multiplex congenita is a clinically and etiologically heterogeneous group of diseases characterized by presence of contractures involving at least two different body areas. It is observed in one in every 3000−5000 live births. A case of singleton arthrogryposis in a spontaneous monochorionic diamniotic twin pregnancy is reported. Diagnosis was established after morphological ultrasound. There were no further complications during pregnancy. After cesarean delivery, diagnosis of amyoplasia involving the four limbs was confirmed. Newborn is currently undergoing motor rehabilitation. The higher risk of singleton arthrogryposis in monochorionic twin pregnancies is documented and appears to be related with vascular changes early in the course of pregnancy. In amyoplasia, some degree of disability and dependency is expected, even with postnatal rehabilitation.
- Assessment of asthmatic child inhalation device techniquePublication . Pinto, Pedro Tiago; Jeri, Miguel; Barbosa, TelmaIntroduction: In Portugal, asthma is a very common disease, particularly in pediatric age, and many children are treated with medications delivered by inhalation devices. It is known that child inhaler technique is often throughout the world. Aim: The aim of this paper is to describe the performance of asthmatic child device technique in a Portuguese children hospital in the city of Porto, (Centro Materno-Infantil do Norte - CMIN). Methods: The authors assessed inhalation device technique of children aged 6 to 18 years, according to standardized checklists, (similar to those on the Aerosol Drug Management Improvement Team (ADMIT) Website) between September and October 2016, during follow-up of pediatric pneumology consultations in CMIN. Results: Twenty one children met the inclusion criteria and 22 inhalation devices assessments were made. The majority (86%) used dry-powder inhalers; the most common error was failure to exhale before actuation (in 61%). Discussion/Conclusion: Our results confirm a relatively high percentage of children failing in their performance in the use of the inhalation devices. Pediatricians and primary care physicians should assess the inhalation technique of asthmatic children regularly, in order to ensure a good asthma control in the pediatric age.
- An atypical presentation of pediatric malignant spinal cord compressionGaia, Maria João; Lopes, Vilma; Tenente, Joana; Coelho, Janine; Real, Marta Vila; Santos, FátimaBackground: Malignant spinal cord compression (MSCC) is a rare but serious complication of pediatric malignancies that can result in permanent neurologic deficits. The prognosis depends on neurological symptoms at diagnosis. Case report: A nine-year-old girl was evaluated for worsening pain in the left anterior iliac spine with one month of evolution. Over the next two days, she showed progressive gait instability and low back pain. During hospitalization, she developed decreased strength and sensitivity in the lower limbs, hyperreflexia with clonus, Babinski sign, and inability to walk. Magnetic resonance imaging showed a compressive intracanalicular lesion at D8-12, later identified as Ewing sarcoma. The patient was treated and had no sequelae. Conclusion: Clinicians should be aware that MSCC may have an atypical presentation, such as pain in an unusual location, and early recognition is essential to improve prognosis.
- Becker Muscular Dystrophy in Pediatric Population: Diagnosis, Genetic Variability, and Disease ProgressionPublication . Ribeiro, Mário; Silva, Joana; Gonçalves, Ana; Santos, Manuela; Garrido, CristinaIntroduction: Becker muscular dystrophy (BMD) is an X-linked neuromuscular disease caused by variants in the DMD gene that leads to progressive muscle weakness, dilated cardiomyopathy, and neurodevelopmental issues. Objective: To characterize patients with BMD from a pediatric neuromuscular disease center. Methods: Retrospective and descriptive study of BMD patients diagnosed between January 1995 and May 2024. Results: A total of 22 male cases were identified, with 9/22 reporting family history of BMD. First symptoms appeared at a median age of 3.0 years (IQR 4.5) and included unstable gait (5/22), fatigue (5/22), myalgias (4/22), asymptomatic elevation of creatine kinase (3/22), delayed motor development (3/22), and myoglobinuria (2/22). Average age at diagnosis was 7.7 years (IQR 5.6). The most frequent genetic alteration was a deletion involving exon 48 of the DMD gene (8/22). The developmental issues identified were intellectual disability (5/22), attention-deficit/hyperactivity disorder (ADHD) (3/22), autism spectrum disorder (1/22), and specific language impairment (1/22). Dilated cardiomyopathy developed at pediatric age in 1 patient, and 3 started corticosteroid therapy owing to worsening motor symptoms. The average follow-up time was 8.7 years (SD 1.1). Conclusion: The phenotypic variability of BMD complicates its diagnosis, but early recognition is crucial for conducting appropriate monitoring and genetic counseling as well as family studies. Our findings highlight the need for multidisciplinary follow-up, particularly due to the significant prevalence of neurodevelopmental problems.
- Breastfeeding for Better Health – A Community-Based InterventionPadilha, Sofia; Arantes, Pedro; Sarmento de Beires, Teresa; Ribeiro, Joana; Eiras, AndreiaIntroduction: Breastfeeding provides multiple health benefits for both mother and child. Several studies suggest that community interventions enhance breastfeeding literacy, practice and duration. The authors developed an intervention to improve parents’ knowledge of the benefits of breastfeeding in the prenatal period as a means of promoting this practice. Methods: An informative session on breastfeeding was organized for pregnant women registered at USF Rainha D. Amélia and their partners. Questionnaires were implemented before, immediately after, and one month post-session to assess knowledge at these intervals. Statistical analysis included descriptive analysis, comparison between questionnaires and analysis of the effect of several variables on knowledge progression. Results: The study included 33 participants, 78.8% of whom were women. Initial questionnaire results showed 67.3% correct answers, which increased to 91.5% immediately post-session, representing a 36% improvement (p < 0.001). Level of education was the sole predictor of higher initial knowledge (p = 0.023). Age and level of education significantly impacted knowledge progression (p = 0.034), but after adjusting for confounders, only previous attendance of a breastfeeding course predicted greater knowledge progression (p = 0.023). Discussion: The project effectively met its goals, confirming the efficacy of community interventions on breastfeeding conducted by healthcare professionals. Age, level of education, and prior breastfeeding knowledge positively influenced the decision to breastfeed. Father’s involvement and increased understanding of breastfeeding will likely enhance their ability to support the mothers. Conclusion: This community intervention positively impacted breastfeeding literacy.
- Bronchial carcinoid tumor as a cause of recurrent pneumoniaGomes, Rita; Carvalho, Catarina; Silva, Gisela; Silva, Sílvia Ferreira; Paupério, Gonçalo S; Carvalho, Fátima; Barbosa, TelmaNeuroendocrine tumors (NETs) are the most common primary lung neoplasms. Clinical manifestations can be subtle, and chest radiograph usually shows non-specific findings, often leading to delayed or inaccurate diagnosis. Despite their indolent nature, NETs have metastatic potential and can cause significant morbidity. Early diagnosis is critical for optimal management, as surgical resection can be curative. The challenge is to correctly diagnose this rare entity while avoiding unnecessary testing. Patients with suspected NETs should be referred to a tertiary hospital for multidisciplinary evaluation, and bronchoscopy should not be delayed. Herein is reported the case of an adolescent with asthma who presented with nonspecific respiratory and constitutional symptoms. The persistence of symptoms and imaging alterations despite multiple treatments for recurrent pneumonia raised clinical suspicion of a more serious underlying condition, leading to the diagnosis of bronchial NET.
- Campylobacter spp Gastroenteritis in Paediatric Patients of a Portuguese Hospital: Impact of the COVID-19 PandemicDe Beir, Joana; Caniço, Joana; Mesquita, Marta; Almeida, SílviaIntroduction: Campylobacter spp is the main cause of acute bacterial gastroenteritis. This study aims to characterise cases of Campylobacter spp acute gastroenteritis (CAG) over the past 10 years in a Portuguese hospital setting and to assess the impact of the COVID-19 pandemic on the incidence and management of these infections. Methods Observational descriptive study of CAG in a Portuguese Paediatrics Department, from 01. June.2013 to 31. December.2023. Diagnosis was established by stool culture/molecular methods. Results: Among 3391 stool samples analysed, 766 tested positive, and Campylobacter spp was isolated in 582 of them. A total of 502 CAG were diagnosed: 89% caused by C. jejuni, 63% were male, and the median age was 2 years. Co-infections were found in 12% of the cases. The incidence of CAG increased over the years, mainly after the emergence of the COVID-19 pandemic. Conclusions: Over the last 10 years, there has been an increase of CAG, mainly affecting young children and boys. After COVID-19, the incidence of campylobacteriosis increased, for reasons that remain to be clarified. Although the clinical course was mostly benign, the acute complications raised after the pandemic.