Introduction: Congenital candidiasis is a rare intrauterine infection characterized by vesicular and pustular skin lesions appearing in the first six days of life. Clinical case: The authors describe the case of a full-term infant presenting erythematous macules, vesicles and pustules involving the trunk and extremities and cervical burn-like dermatitis at birth. Mycological skin lesion culture was positive for Candida albicans. Blood culture was positive for methicillin-sensitive Staphylococcus aureus. After systemic antifungal and antibiotic therapy was started, the newborn remained asymptomatic with lesion improvement. Discussion/ Conclusion: Herein is reported a case of congenital candidiasis in a full-term infant, with a successful recovery. The rarity of congenital candidiasis can lead to delayed diagnosis and unnecessary treatment. This case shows that fungal infection should be considered in the differential diagnosis of vesiculopustular skin lesions in neonates. Systemic therapy should be initiated if invasive candidiasis is suspected.
Introduction: Classical homocystinuria (HCU) is an autosomal recessive disorder caused by a deficiency in the cystathionine beta-synthase enzyme and associated with a high probability of vascular complications. Herein is presented the case of an adolescent diagnosed with HCU during cerebral venous sinus thrombosis (CVST) study. Case Report: A 14-year-old girl presented with thrombophilia screening tests suggestive of HCU during CVST study. After referral to an Inherited Metabolic Diseases Unit, she started supplementation with pyridoxine, folic acid, vitamin B12, betaine anhydrous, and cysteine and was advised to restrict natural proteins and methionine from diet. Genetic analysis revealed a homozygous CBS mutation (c.572C>T (p.T191M) with c.699C>T (p.Y233Y) polymorphism. Discussion: In adolescents born before 2004 (year of implementation of the Portuguese newborn screening program), HCU should be considered when studying hypercoagulability syndromes, as it is a treatable condition and treatment can prevent major morbidity and mortality causes.
Introduction: Kawasaki disease, an acute self-limited vasculitis of small and medium arteries of unknown etiology, is the leading cause of heart disease in children in most developed countries. If untreated, it can lead to coronary artery dilatation and aneurysm, placing patients at risk for coronary thrombosis, myocardial infarction, or sudden death. Case Report: A previously healthy five-month-old boy presented with a history of respiratory symptoms and fever, being admitted for respiratory syncytial virus bronchiolitis. He maintained fever for five days associated with progressive clinical worsening and sequential development of conjunctival injection, cracked lips, swelling of hands and feet, and polymorphous rash of the limbs. Diagnostic procedures showed increased levels of inflammatory markers, hyponatremia, hypoalbuminemia, sterile pyuria, and aseptic meningitis. Despite an initial normal echocardiogram, Kawasaki disease was suspected and the boy started intravenous immunoglobulin on the fifth day. On the seventh day, echocardiogram showed signs of pancarditis and mild coronary artery ectasia and acetylsalicylic acid was started. The boy was discharged, but eight days later echocardiogram revealed major and diffuse coronary artery ectasia in a follow-up consultation and he was readmitted to start corticosteroid therapy. After five months, the boy displayed normalization of cardiac changes, without further complications. Comments: Kawasaki disease below six months of age is rare and associated with a high risk of coronary artery aneurysm. It is important to recognize the clinical and laboratory criteria associated with this entity and start early treatment, avoiding cardiac complications.
Congenital cytomegalovirus infections are the most prevalent intrauterine infections worldwide and result from maternal primary or non-primary infections. Diagnosis of primary cytomegalovirus infection during pregnancy is considered reliable and mainly relies on maternal serology. However, diagnosis of non-primary cytomegalovirus infection is more questionable. Herein is reported the case of a 34-week-old male newborn with congenital cytomegalovirus infection of a mother with preconceptional immunity. The organism was identified in urine by polymerase chain reaction in the first week of life. Maternal peripartum serology was the same as prior to conception. This case highlights the pitfalls of cytomegalovirus serology interpretation in non-primary infection during pregnancy. Clinicians should be aware of this and consider congenital cytomegalovirus infection, particularly when suggestive signs are present.
Technological and therapeutic advances in neonatal intensive care have led to a decrease in neonatal morbidity and mortality in recent decades. Along with technical and scientific expertise, it is important to provide a holistic and comprehensive approach to the care of the newborn and family. The purpose of this review is to describe and analyze strategies to improve decision-making within a shared process between health professionals and caregivers at neonatal intensive care setting. The decision-making process is not linear or immutable over time and there is no consensus on the definition of ‘shared decision’. More unanimous is the role of communication as a atherapeutic relationship pillar. Professional ethics, bioethics, and narrative medicine should be used as tools to address the vulnerabilities of families and professionals and as a way to consolidate and structure the human relational dimension intrinsic to medical practice.
Introduction: Pica is the persistent ingestion of non-nutritive substances. It is common during childhood and may be related to nutritional deficits, intellectual disability, stress, and psychosis. However, no causative biological condition is identified in most cases and there is limited evidence to support pharmacological intervention. As several authors describe pica as an impulse control disorder and impulsive symptoms are a core aspect of the diagnostic criteria of attention deficit hyperactivity disorder (ADHD), this study reviews literature data on pica, ADHD, and treatment response during childhood and adolescence and adds two case reports to this body of evidence. Methods: Systematic literature review using the key terms “pica”, “attention deficit”, “hyperactivity”, “child”, and “adolescent”. A retrospective analysis of clinical data of two patients with pica and ADHD followed at the Child and Adolescent Psychiatry Department of Hospital Pediatrico was also conducted. Results: As far as the authors are aware, only three cases are currently reported in the literature describing comorbid pica and ADHD in children. Of these, two reported complete pica symptom remission after methylphenidate treatment. Two other cases of children with pica and ADHD observed at the Child and Adolescent Psychiatry Department of our institution were reported in this study, one of which had complete symptom remission after psychostimulant treatment optimization. Discussion: The suggested association between pica and ADHD may have underlying etiology in poor impulse control and dopaminergic system dysfunctions. Therefore, a pharmacological approach capable of improving dopaminergic functioning may be an alternative treatment for pica. Psychostimulants may improve pica by eliciting an increase in brain dopamine levels and a decrease in impulsivity.
Introduction: Minimally invasive surfactant therapy (MIST) is a surfactant administration procedure that intends to reduce intubations and associated risks. The aim of this study was to compare MIST with INtubation-SURfactant-Extubation (INSURE) technique. Material and methods: Retrospective analysis (from January 2015 to June 2019) of preterm infants on nasal continuous positive airway pressure (nCPAP) treated with surfactant.Results: Fifty-four preterm infants were included and divided in two groups: MIST (n=34) and INSURE (n=20). No significant differences were found between groups regarding gestational age (p=0.480), birth weight (p=0.299), fraction of inspired oxygen (FiO2) prior to surfactant (p=0.220), oxygen therapy duration (p=0.306), progression to intubation (p=0.712), or length of Neonatal Intensive Care Unit stay (p=0.778). FiO2 variation before and after surfactant administration was higher in MIST group (14% vs 9%, p=0.078). No significant complications were reported with either technique.Conclusions: MIST is a safe technique in preterm infants on nCPAP. This study shows similar outcomes with MIST and INSURE procedures, with a greater reduction in FiO2 requirements with MIST. Overall, MIST is less invasive and as effective as INSURE in preterm infants.
Introduction: Child sexual abuse (CSA) is a global public health problem across different culture and socioeconomic strata. Teachers have a privileged role in prevention programs and the approach is feasible and effective in preschoolers. The aim of this study was to characterize preschool teachers’ knowledge, attitudes, and training about CSA prevention.Methods: A non-experimental, exploratory, cross-sectional study was conducted in Leiria, Portugal, comprising 47 preschool teachers. Data was retrieved through a questionnaire developed by study authors. Results: Most preschool teachers had no CSA prevention training. About half of inquired teachers considered their knowledge about CSA prevention as reasonable. However, 12.8% classified it as poor, mainly teachers with less practice years (50% vs 69.6% of teachers with ≥30 practice years who classified their knowledge as reasonable, p=0.03). Most participants agreed that CSA prevention should be part of preschool curriculum, particularly older teachers (92% vs 77%, p=0.03). Most respondents considered adjusting these concepts to preschoolers challenging for implementation of prevention programs, 72.4% considered that some topics were not suitable for discussion with preschool children, and 82.9% considered that their approach was not well accepted by parents or caregivers. Discussion: Study results evidenced several difficulties and limited training of preschool teachers in CSA prevention. Encouragingly, most teachers showed a positive attitude towards participating in CSA training education and including this topic in preschool curriculum. This study emphasizes the importance of teachers’ education in this subject through implementation of training programs.
The revolutionary advances in genetic testing technologies of the past decade have allowed detailed analysis of a patient ́s whole genome with increased precision, speed and cost-effectiveness, substantially improving diagnostic rates. High-throughput genome-scale tests commonly used in pediatric care include chromosome microarray analysis (CMA) and whole exome sequencing (WES). CMA assesses genome-wide copy number variations (CNVs) and has been well established in clinical practice as the first-tier test in children with developmental delay/ intellectual disability, autism spectrum disorder or multiple congenital anomalies, with diagnostic yields ranging from 12 to 28%.1 WES is more recent and takes advantage of next-generation-sequencing (NGS) technology to analyze the protein coding regions of known genes (approximately 20.000) for sequence variants and can additionally screen for CNVs. WES is particularly useful in the etiological investigation of unspecific genetic conditions with multiple differential diagnoses and in disorders with genetic heterogeneity such as epilepsy, developmental delay/intellectual disability, sensorineural hearing loss or retinitis pigmentosa. The diagnostic yields of WES range from 15% to 50% and can be enhanced with trio analyses (proband and both parents).2
Children are more susceptible than adults to development of tuberculosis after exposure to active disease, hence screening and chemoprophylaxis are particularly important. Although Portugal is considered to have a low burden of tuberculosis, educating the population on the importance of screening and treatment is vital to decrease the number of cases. Herein is reported the case of an 11-year-old girl with previous contact with active tuberculosis who was lost to follow-up and later diagnosed with bacillary pulmonary tuberculosis.
VATER is a nonrandom association of congenital defects with common developmental pathogenesis including/which includes malformations like vertebral defects, anal atresia or imperforate anus, tracheoesophageal fistula with esophageal atresia, and radial or renal dysplasia. VATER acronym was initially used to describe this association, but other malformations, like cardiac defects and limb anomalies, were later also considered cardinal features and included, changing the acronym to VACTERL. Although few cases have been reported, VATER/VACTERL spectrum association can be detected in first-trimester ultrasound. Herein, the authors describe two cases of VATER/VACTERL association suspected during the 12-week ultrasound and confirmed in anatomopathological study. Prenatal VACTERL association diagnosis is challenging and rarely detected in the first pregnancy trimester. It requires skill and experience to interpret ultrasound findings and some features are difficult to recognize before birth. Early diagnosis is important for parental counselling and delivery planning. Management options include medical pregnancy termination and delivery in a tertiary center to improve outcomes.
Case report: The authors present the case of a 15-year-old adolescent boy with occipital spur noticed since the previous year and with progressive enlargement. No history of trauma or other associated symptoms was evident. Physical examination showed a hard tumefaction with no inflammatory signs and x-ray revealed occipital hyperostosis. The boy spent most free time playing with mobile gadgets, with poor body posture.Discussion/Conclusion: Although considered a normal feature, occipital spur in adolescents and young adults may be linked to poor posture, for instance associated with prolonged use of handheld technology. Exaggerated technology use may be associated with several complaints and musculoskeletal symptoms should not be neglected.
Here in is reported the case of a 16-year-old female diagnosed with vitreous haemorrhage and hemangioblastoma of the retina, referred to the Emergency Department due to sudden vision loss. Brain and pelvic magnetic resonance imaging showed cerebellar hemangioblastomas and renal nodular lesions of suspicious nature. The patient was submitted to partial left nephrectomy and histological examination revealed papillary renal cell carcinoma with clear-cell predominance. Clinical diagnosis of Von Hippel-Lindau (VHL) disease was confirmed by genetic study.VHL disease is a hereditary, autosomal dominant syndrome of multiple neoplasms caused by germline mutations in VHL tumor-suppressor gene. Patients are predisposed to development of cysts and hypervascular neoplasms, the most common being hemangioblastomas of the central nervous system (CNS) and retina, cysts and renal cell carcinomas, and pheochromocytomas. VHL diagnosis should be suspected if an individual with family history of VHL presents with a characteristic disease lesion or, in absence of family history of VHL, with two CNS and/or retinal hemangioblastomas or a CNS/retinal hemangioblastoma associated with renal cell carcinoma, pheochromocytoma, pancreatic cysts or endocrine tumor, or epididymal cystadenoma. In VHL disease, imaging plays a key role in detection of abnormalities, follow-up, and screening of asymptomatic mutated gene carriers.
A previously healthy 15-year-old girl was sent to the Pediatric Emergency Department by the general practitioner due to suspicion of a hematological condition. The girl presented with ecchymotic lesions on the anterior region of the thorax and antero-proximal region of the upper limbs, which had apparently worsened in the last 24 hours. She denied trauma or impact sports, fever or recent infections, and blood loss or other symptoms. Laboratory evaluation showed no alterations and urine toxicology screening was negative. When confronted with normal laboratory evaluation, the girl confessed intentional self-inflicted injuries following a discussion with her mother. Parents were made aware of the situation, and a pediatric psychiatry consultation was recommended. After discharge, follow-up in the girl’s home country was assured.With this report, the author intend to raise awareness of the importance of maintaining a high index of suspicion to non-suicidal self-injury, identifying alarm signs and establishing early preventive strategies.
ncontinentia pigmenti is an X-linked neuroectodermal dysplasia. It is a rare genetic disease with multiorgan involvement, and hence a multidisciplinary approach is of paramount importance. Although diagnosis is based on clinical findings, genetic molecular testing can be performed to confirm diagnosis and allow future genetic counselling. The authors describe the case of a 4-month-old girl accidentally diagnosed with incontinentia pigmenti following routine physical examination in the Emergency Department. Timely diagnosis enabled appropriate multidisciplinary approach and follow-up.
Introduction: Although banished from current mental disorders classifications, the condition formerly known as hysteria has clinical manifestations still puzzling to clinicians. Herein is briefly revised the historical concept of hysteria, as well as, psychological mechanisms underlying some of its current derivatives: conversive and dissociative disorders. Case report: A previously healthy 17-year-old boy presented with sudden onset of total strength loss in the lower limbs. After neurological assessment, the boy was diagnosed with conversion disorder. Two months later he developed trance and possession states requiring hospitalization, and later, dissociative amnesia. Despite psychological distress underlying patient’s symptoms, la belle indifference was also a meaningful issue. Discussion: This study presents a critical reflection about conversion and dissociative disorders and diagnostic challenges arising from their inconsistent and variable clinical features. Conclusion: With this case report, the authors intend to raise awareness to the risk of recurring care demand for care that can elicit iatrogenic harm and delayed proper treatment.
Introduction: Behcet's syndrome is a systemic vasculitis characterized by recurrent oral and/or genital ulcers, and several systemic manifestations. The authors describe the case of a pediatric-onset Behcet's syndrome. Case report: An 11-year-old boy was referred to the Pediatric consultation after two episodes of great saphenous vein thrombophlebitis. He had experienced daily oral aphthae for the past three years, and various episodes of folliculitis with pustule formation. Laboratory study was normal. The boy showed no signs of uveitis. The diagnosis of Behcet's syndrome diagnosis was established according to the international criteria, with positive HLA- B51 testing. Colchicine was initiated, with favourable response. Conclusions: Due to clinical feature overlap with other conditions, Behcet's syndrome diagnosis remains challenging. Consensus pediatric classification criteria developed in 2016 enabled greater sensitivity and earlier diagnosis.
