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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.
- 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.
- Dermatology clinical casePublication . Brandão, Pedro; Falcão-Reis, Inês; Rodrigues, Cátia; Ferreira, Vânia; Sá, IsabelUlcus Vulvae Acutum or Lipschütz ulcer is a rare cause of acute vulvar ulcer that usually affects young, non-sexually active women and consists on the sudden emergence of vulvar ulcers some days after an influenza-like syndrome, usually caused by Epstein-Barr virus. Despite its exuberant presentation, such ulcers are benign and self-limited. Diagnosis is clinical and treatment, symptomatic. Lesions typical resolve within a few weeks, leaving no scars. The authors describe the case of a 17-year-old, sexually active female adolescent with Lipschütz ulcers.
- Fever from Primary Tooth Eruption – What is the evidence?Publication . Matos, Sara; Silva, PatríciaIntroduction: There is no consensus on the causal relationship between primary dental eruption and both systemic and local signs and symptoms. Fever, an important sign, is often reported. Such lack of evidence hampers clinical reasoning and may contribute to delayed diagnosis of important conditions. Objective: To review existing evidence underlying the association between primary tooth eruption and fever. Methods: A review of the evidence on English, Portuguese and Spanish scientific publications over the last ten years was performed in the main international databases using the query “tooth eruption” and “fever” [MeSH], and in the index of Portuguese medical journals using the query “erupção dentária” and “febre” [DeCS]. SORT system of the American Family Physician was used for rating the strength of evidence. Results: A total of 53 articles were retrieved, from which two meta-analyses and two original studies were selected, comprising a total of 5317 children. Massignan et al. (2016) meta-analysis and Memarpour et al. (2015) clinical trial found a slight temperature increase on the day of primary tooth eruption, but no fever. In Nemezio et al. (2017) meta-analysis, this association was observed in the subgroup that used the rectal method for temperature assessment. Un Lam et al. (2016) observational study reported a fever prevalence of 49.9%. Discussion and conclusions: The present analysis had several limitations, including a significant heterogeneity amongst studies in the definition of fever, interpersonal variability during fever measurements, different fever assessment methods or absence of that information, and no exclusion of confounding factors. Given available evidence, it is not possible to establish a clear association between primary dental eruption and the occurrence of fever. A higher number of robust studies is required to confirm this hypothesis (SORT B).
- Fluid administration − Which direction?Publication . Vaz, Sara; Sousa, Sofia Cochito; Abecasis, Francisco; Boto, Leonor; Rios, Leonor; Camilo, Cristina; Vieira, MarisaIntroduction: Although fluid administration for intravenous hydration is a common practice in pediatric age, it is not devoid of risks. Methods: This was a retrospective cohort study including all children admitted to surgical recovery and receiving intravenous hydration at a Pediatric Intensive Care Unit between January and December 2015. Sodium, chloride, and base excess values were registered on two occasions: after surgery and during Unit’s hospitalization. Results: Two hundred and seven children were included in the study, 66% of which, male, with a median age of 6.7 years. Fluids used consisted of 0.9% saline solution, 0.45% saline solution, and polyelectrolyte solution. The most frequently used fluids were polyelectrolyte (62%) and 0.9% saline solution (48%) at the operating room, and 0.9% saline (63%) and 0.45% saline (44%) solutions at the Pediatric Intensive Care Unit. At the operating room, 0.9% saline solution led to higher chloride median values and more negative base excess (metabolic acidosis) values compared with polyelectrolyte solution. At the Pediatric Intensive Care Unit, 0.9% saline solution administration resulted in hyperchloremia (p=0.002) and more metabolic acidosis (p=0.019) compared with 0.45% saline solution. There was no statistically significant association between type of solution used and sodium values. Discussion: This study shows that the use of 0.9% saline solution is associated with development of hyperchloremic acidosis. This suggests that replacement of 0.9% saline solution with a plasma-like electrolyte solution may improve patient outcomes.
- Hypotonia and feeding problems in the newborn: a congenital myotonic dystrophy type 1 clinical casePublication . Silva, Cláudia Teles; Madureira, Cristina; Melo, Cláudia; Martins, Cecília; Cardoso, Raquel; Miguel, CristinaIntroduction: Congenital myotonic dystrophy type 1 (DM1) is characterized by hypotonia and severe general weakness at birth, often with respiratory distress and even death. Clinical report:A newborn male with prenatal diagnosis of ventriculomegaly and polyhydramnios was born at 39 weeks of gestation with no immediate occurrences and a maternal family history of two cases with unspecified neuromuscular conditions. The newborn was admitted in the second day of life due to feeding problems and desaturation episodes, presenting with hypotonia, non-vigorous crying, facial diplegia, and arthrogryposis of the lower limbs. A genetic study for myotonic dystrophy was requested, which revealed cytosine thiamine and guanine (CTG) expansion in the DMPK gene (1100−1400 repeats), confirming diagnosis of congenital DM1. Discussion and conclusions: Despite the presence of congenital DM1, this newborn presents with a milder phenotype than expected for the condition. Symptom recognition, combined with family history, allowed an early diagnosis and adequate follow-up.
- Imaging clinical casePublication . Martins, Cristiana; Ferreira, Jorge; Pereira, GabrielaIntroduction: Acute hemorrhagic edema of infancy (AHEI) is a rare and benign leukocytoclastic vasculitis, frequently misdiagnosed. Case report: A twelve-month-old boy presented with a seven-day history of coryza and cough associated with lowgrade fever and the sudden appearance of a purpuric rash over the left lower limb. It progressed to an annular purpuric rash, with well-defined edges, on the face, limbs, ears, buttocks, and scrotum, with right tibiotarsal joint edema. Mild thrombocytosis was detected on laboratorial investigation. Patient was treated with a two-day course of oral betamethasone, with clinical improvement. No complications were reported within three weeks of follow-up. Discussion: AHEI has a sudden onset and a benign, self-limiting course. This report may be a helpful reminder to discriminate AHEI from other, more serious diseases, avoiding exhaustive and unnecessary investigation.
- Linear IgA bullous dermatosis: report of an exuberant clinical case and literature reviewPublication . Pereira, Sandra; Martins, Alexandra; Oliveira, Teresa; Monteiro, VirgíniaIntroduction: Linear IgA dermatosis (LIGAD) is a rare acquired disease, with a probable autoimmune origin. Its differential diagnosis involves other bullous dermatosis. Case Report: A previously healthy 12-month-old male was observed at the Emergency Department due to a 4-day itchy vesiculobullous rash in the perineal region, lower abdomen, hands, and feet. Analytical study was normal. Flucloxacillin and hydroxyzine were initiated without improvement. New (some of which confluent) lesions, erosions, and serohematic crusts developed on the periphery of previous lesions. A skin biopsy was performed at this time, revealing a subepidermal blister with neutrophilic infiltrate at histological examination. Direct immunofluorescence uncovered linear IgA deposits along the basement membrane. Lesion remission occurred without further therapeutic measures. Discussion: Although clinically exuberant, LIGAD is usually a self-limited disease. A high degree of suspicion is important, since immunofluorescence is diagnostic and pathognomonic, avoiding late diagnosis, unnecessary treatments, and parental anxiety.
- Perinatal clinical casePublication . Alves, Marta; Branco, Liliana; Lopes, Andreia; Pereira, BárbaraA 16-day-old male was observed at the Emergency Department for a right cervical mass noticed on the same day by the parents, with no other associated symptoms. He was a fullterm child, delivered by vacuum extraction, with an uneventful perinatal period. At the time of physical examination, a cervical mass was palpable in the inferior portion of the right sternocleidomastoid muscle, in association with ipsilateral torticollis. Cervical ultrasound revealed a fusiform thickening of the sternocleidomastoid muscle, with well-defined, hypoechoic margins, confirming the diagnosis of fibromatosis colli. Parents were instructed to adopt positioning measures and physical therapy was initiated, with clinical resolution by seven months of age. Fibromatosis colli is the most severe presentation of congenital muscular torticollis. Although typical clinical findings usually enable the diagnosis, cervical ultrasound is useful to confirm muscular origin of the mass. Torticollis in the opposite direction of the mass, spinal deformities, abnormal eye movements, or other abnormal neurological findings
- A rare case of pediatric volvulus caused by a persistent omphalomesenteric cystPublication . Valpaços, Catarina; Costa, Mariana; Figueiredo, Suzana; Silva, Ana Raquel; Correia-Pinto, Jorge; Osório, AngélicaA persistent omphalomesenteric duct is one possible cause of small-bowel volvulus, a rare cause of acute abdomen in children. A four-year-old child was admitted to the Emergency Department with abdominal pain and incoercible vomiting, with neither abdominal guarding nor relevant abnormalities revealed in complementary diagnostic exams. Due to a significant clinical deterioration over a 48-hour observation period, the child was transferred to a tertiary hospital with pediatric surgery. An abdominal ultrasound revealing severe bowel distension and increased abdominal free fluid warranted an exploratory surgery, which identified a voluminous omphalomesenteric duct cyst. When symptomatic, treatment of this condition is consensual and consists of surgical excision of the anatomical abnormality, either by laparoscopy or conventional surgery. The latter was performed. Conclusion: A persistent omphalomesenteric duct is a rare condition that generally requires a high level of clinical suspicion for diagnosis to be made, being most commonly detected during surgery. Associated complications and mortality rates are high, and a timely intervention is key, since surgical removal is the only treatment option.