ACUTE ACALCULOUS CHOLECYSTITIS RELATED TO HEPATITIS A VIRUS: REPORT OF 3 CASES.

Hepatitis A virus commonly affects children in developing countries. Usually, it presents as an asymptomatic infection or a self-limited acute hepatitis. We report 3 rare pediatric cases of acute acalculous cholecystitis associated with to hepatitis A virus. Conservative treatment was successful, with complete clinical, analytical and imaging remission.

Multisystem Inflammatory Syndrome in Children Associated with COVID-19 in a Tertiary Level Hospital in Portugal.

INTRODUCTION: Multisystem inflammatory syndrome in children (MIS-C) is a rare and severe manifestation of coronavirus disease 2019 (COVID-19). The aim of this study was to describe the characteristics of children with MIS-C admitted to a pediatric tertiary hospital in Portugal. MATERIAL AND METHODS: Observational descriptive study of MIS-C patients admitted between April 2020 and April 2021. Demographic and clinical characteristics, diagnostic tests, and treatment data were collected. The diagnosis of MIS-C was based on the World Health Organization and Centers for Disease Control and Prevention criteria. RESULTS: We reported 45 children with MIS-C. The median age was seven years (IQR 4 - 10 years) and 60.0% were previously healthy. SARS-CoV-2 infection was confirmed in 77.8% by RT-PCR or antibody testing for SARS-CoV-2, and in 73.3%, an epidemiological link was confirmed. All the patients had a fever and organ system involvement: hematologic (100%), cardiovascular (97.8%), gastrointestinal (97.8%), mucocutaneous (86.7%), respiratory (26.7%), neurologic (15.6%), and renal (13.3%) system. Neurological (p = 0.035) and respiratory (p = 0.035) involvement were observed in patients with a more severe presentation. There was a significant difference of medians when comparing disease severity groups, namely in the values of hemoglobin (p = 0.015), lymphocytes (p = 0.030), D-dimer (p = 0.019), albumin (p < 0.001), NT-proBNP (p = 0.005), ferritin (p = 0.048), CRP (p = 0.006), procalcitonin (p = 0.005) and IL-6 (p = 0.002). From the total number of children, 93.3% received intravenous immunoglobulin, 91.1% methylprednisolone, and one patient (2.2%) received anakinra. Thirteen patients (28.8%) required intensive care and there were no deaths. Of the 21 patients evaluated, 90.4% had reduction of exercise capacity and of the 15 patients who underwent cardiac magnetic resonance, 53.3% had sequelae of cardiac injury. CONCLUSION: We observed a large spectrum of disease presentation in a group of patients where most were previously healthy. A small percentage of patients (28.9%) had a severe presentation of the disease. MIS-C is a challenge in current clinical practice and its diagnosis requires a high level of clinical suspicion as the timely initiation of therapy is essential to prevent complications. However, there is no scientific consensus on the treatment and follow-up of these patients.

Introdução: A síndrome inflamatória multissistémica em crianças (MIS-C) é uma manifestação rara, mas grave da doença por coronavírus 2019 (COVID-19). Este estudo teve como objetivo descrever as características de crianças com MIS-C internadas num hospital pediátrico terciário em Portugal. Material e Métodos: Estudo observacional e descritivo de doentes com MIS-C internados de abril de 2020 a abril de 2021. Analisaram-se dados demográficos, clínicos, exames de diagnóstico e terapêutica. O diagnóstico baseou-se nos critérios da Organização Mundial de Saúde e Centers for Disease Control and Prevention. Resultados: Foram identificadas 45 crianças, com mediana de idades de sete anos (AIQ 4 - 10 anos) sendo 60,0% previamente saudáveis. A infeção por SARS-CoV-2 foi confirmada por RT-PCR ou serologia em 77,8% dos doentes e 73,3% tinham link epidemiológico. Todos os casos cursaram com febre e envolvimento multiorgânico: hematológico (100%), cardiovascular (97,8%), gastrointestinal (97,8%), mucocutâneo (86,7%), respiratório (26,7%), neurológico (15,6%) e renal (13,3%). O envolvimento neurológico (p = 0,035) e respiratório (p = 0,035) ocorreu nos doentes mais graves. Houve uma diferença significativa das medianas quando comparados grupos de gravidade da doença, nomeadamente nos valores de hemoglobina (p = 0,015), linfócitos (p = 0,030), D-dímeros (p = 0,019), albumina (p < 0,001), NT-proBNP (p = 0,005), ferritina (p = 0,048), pCr (p = 0,006), procalcitonina (p = 0,005) e IL-6 (p = 0,002). Destas crianças, 93,3% realizaram imunoglobulina intravenosa, 91% metilprednisolona e um (2,2%) realizou anakinra. Treze doentes (28,8%) necessitaram de cuidados intensivos e não se registaram óbitos. Dos 21 doentes avaliados seis meses após a alta, 90,4% apresentaram diminuição da tolerância ao esforço e 8/15 (53,3%) lesão cardíaca persistente. Conclusão: Observámos um amplo espectro de apresentação da doença num grupo de doentes previamente saudável, na sua maioria. Uma pequena percentagem de pacientes (28,9%) teve uma apresentação grave da doença. O diagnóstico da MIS-C é um desafio na prática clínica atual e requer um elevado nível de suspeição pois o início atempado de terapêutica é fundamental para prevenir complicações. No entanto, não existe ainda consenso científico sobre a melhor terapêutica e seguimento destes doentes.

Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings.

The authors present a new association of two heterozygous TACR3 mutations (p.Arg230His and p.Trp275*) responsible for a clinical trait of normosmic congenital hypogonadotropic hypogonadism in a family.

Zinner and Mayer-Rokitansky-Küster-Hauser syndromes: when unilateral renal agenesis meets genital anomalies.

Congenital unilateral renal agenesis is a relatively frequent condition at birth diagnosed mostly incidentally. Despite the excellent prognosis, unilateral renal agenesis is associated with an increased risk of other structural abnormalities, including genital malformations. The authors present two cases of asymptomatic adolescents with known congenital unilateral renal agenesis and associated genital malformations solely diagnosed during puberty-a man with Zinner syndrome and a female with Mayer-Rokitansky-Küster-Hauser syndrome.

Children Who Leave the Emergency Department Without Being Seen: Why Did They Leave and What Would Make Them Stay?

INTRODUCTION: Children who visit emergency departments and leave without being seen represent a multifactorial problem. We aimed to compare the sociodemographic characteristics of children who left and of those who did not leave, as well as to evaluate parental reasoning, subsequent use of medical care and patient outcome. MATERIAL AND METHODS: This was a prospective case-control study of a random sample of children who left without being seen and their matched controls from an emergency department during a three-month period. We performed a phone questionnaire to obtain information concerning reasons for leaving, patient outcomes and general feedback. RESULTS: During the study period, 18 200 patients presented to the emergency department, of whom 92 (0.5%) left without being seen. Fifty-five (59.8%) completed the questionnaire and there were 82 controls. The most common reasons for leaving were 'excessive waiting time' (92.7%) and 'problem could wait' (21.8%). A significantly higher number of patients who left sought further medical care (78.2% vs 11%) but they did not experience higher levels of unfavourable outcomes. DISCUSSION: The waiting time seems to be the major factor that drives the decision to leave. The fact that parents felt safe in leaving and the low level of adverse outcomes highlights the low-acuity nature of the majority of patients who leave. CONCLUSION: Reducing the waiting times may be the logical strategic mean to decrease the rates of patients who leave without being seen. However, our data seems to indicate that the concerns surrounding clinical outcome after leaving may be partly unwarranted.

Introdução: O abandono de doentes do serviço de urgência pediátrico antes da observação médica constitui um problema multifatorial. Procurámos comparar características sociodemográficas de crianças que abandonaram a urgência e das que não abandonaram, assim como avaliar os motivos, recurso subsequente a cuidados de saúde e outcome clínico. Material e Métodos: Estudo caso-controlo prospetivo de amostra aleatória de crianças que abandonaram a urgência e de controlos pareados durante um período de três meses. Foi realizado um questionário telefónico para recolha de informação relacionada com os motivos para o abandono, outcomes clínicos e opiniões gerais. Resultados: Durante o período do estudo, 18 200 doentes recorreram ao Serviço de Urgência Pediátrica, dos quais 92 (0,5%) abandonaram. Um total de 55 casos (59,8%) e 82 controlos completaram o questionário. As razões mais comuns para o abandono foram 'tempo de espera excessivo' (92,7%) e 'problema podia esperar' (21,8%). Um número significativamente superior de doentes que abandonaram recorreu subsequentemente a cuidados de saúde (78,2% vs 11%), não tendo contudo apresentado uma incidência superior de outcomes adversos. Discussão: O tempo de espera parece ser o fator prioritário que motiva a decisão de abandonar a urgência. A segurança referida pelos pais aquando da decisão e a incidência reduzida de outcomes adversos parecem reforçar a noção de que se trata de doentes com casos clínicos de baixa gravidade. Conclusão: A redução do tempo de espera parece ser a medida estratégica lógica para diminuir as taxas de abandono. No entanto, a preocupação associada ao outcome clínico após o abandono poderá ser parcialmente injustificada.

Lumbar pseudo-tail associated with dermal sinus - A case report.

BACKGROUND: Lumbosacral and coccygeal skin covered appendages are a rare malformation, considered human-tails. CASE REPORT: The authors describe the case of a full term newborn girl with lumbar skin appendage and a normal neurologic examination. The magnetic resonance of the spine revealed a dermal sinus continuous with the skin appendage and with extension into to the spinal canal. Due to the infection risk, a surgery was performed on the third day of life, with dermal sinus ligation and appendage removal. At 12 months of follow-up the girl has a normal neurologic examination. CONCLUSIONS: With the description of this case the authors aim to emphasize that although rare, lumbar skin appendages can be associated with spinal dysraphism and other lesions, requiring extensive work-up and long-term surveillance.

Lumbar pseudo-tail associated with dermal sinus - A case report / Pseudocola lumbar asociada a seno dérmico - Caso clínico

Background: Lumbosacral and coccygeal skin covered appendages are a rare malformation, considered human-tails. Case report: The authors describe the case of a full term newborn girl with lumbar skin appendage and a normal neurologic examination. The magnetic resonance of the spine revealed a dermal sinus continuous with the skin appendage and with extension into to the spinal canal. Due to the infection risk, a surgery was performed on the third day of life, with dermal sinus ligation and appendage removal. At 12 months of follow-up the girl has a normal neurologic examination. Conclusions: With the description of this case the authors aim to emphasize that although rare, lumbar skin appendages can be associated with spinal dysraphism and other lesions, requiring extensive work-up and long-term surveillance

Antecedentes: Los apéndices humanos lumbosacros y coccígeos recubiertos de piel son malformaciones raras, consideradas colas humanas. Caso clínico: Describimos el caso de una niña recién nacida a término, con un apéndice cutáneo lumbar y con una exploración neurológica normal. La resonancia magnética lumbosacra demostró un seno dérmico contiguo al apéndice cutáneo con extensión al canal vertebral. Dado el riesgo de infección, fue operada al tercer día de vida realizándose ligación del seno dérmico y resección del apéndice cutáneo. Pasados 12 meses la niña continúa presentando un examen neurológico normal. Conclusiones: Con la descripción de este caso los autores pretenden realzar que, aunque raros, los apéndices cutáneos lumbares suelen asociarse a disrafismos espinales. Precisan, por ello, un estudio exhaustivo y seguimiento a largo plazo