15 documents found, page 1 of 2

Nijmegen breakage syndrome: The importance of follow-up

Abstract Nijmegen breakage syndrome (NBS) is a rare genetic disorder caused by mutations in the NBN gene, which is inherited in an autosomal recessive pattern. The condition results in inadequate DNA repair and is characterized by immunodeficiency with recurrent sinopulmonary infections, increased radiosensitivity, and predisposition to malignancy, particularly of lymphoid origin. The main clinical feature is p...

Pediatric COVID-19 ─ What kind of disease is it?

Abstract Background: The burden of COVID-19 is reported to be less significant in pediatric patients, with lower morbidity and mortality. Our center secured daily telephone follow-up for pediatric COVID-19 outpatients during the isolation period of the pandemic. The aim of this study was to describe COVID-19 manifestations in the pediatric population. Methods: This was a retrospective cohort study of pediatric ...

Gastrointestinal manifestations of COVID-19 in pediatric age

Abstract Introduction: Gastrointestinal (GI) symptoms associated with COVID-19 have become increasingly relevant, particularly in pediatric age. The expression of angiotensin II receptors in the GI tract may explain, not only the predominance of GI symptoms, but also the presence of isolated GI manifestations of the disease in some cases. The aim of this study was to characterize a population of pediatric patie...

Long COVID in children and adolescents: Is it real?

Abstract Introduction : While acute COVID-19 symptoms are well defined and described, long-term symptoms are not. Most patients achieve full recovery within 3-4 weeks after the onset of the infection, but in some cases, symptoms persist weeks or months after recovery. Although extensively studied in adults, COVID-19 data in pediatric patients remains scarce. Objective : To review the available literature regard...

A rare presentation of COVID-19 in a ten-year-old girl

Abstract Multisystem inflammatory syndrome in children (MIS-C) is a severe and rare manifestation of SARS-CoV-2 infection. A 10-year-old-girl without epidemiological context of COVID-19 presented with fever, headache, and vomiting with two days of evolution. She was hemodynamically stable. Laboratory tests showed lymphopenia, mild thrombocytopenia, and positive C-reactive protein. Reverse transcription polymera...

Cutaneous leishmaniasis - two cases, two perspectives

Although endemic in some regions, as the Douro river valley, cutaneous leishmaniasis is a rare zoonosis in Portugal. Children are the most affected age group. Treatment remains controversial, given the lack of scientific evidence. The goal of cutaneous leishmaniasis treatment is to avoid dissemination and progression to disfiguring lesions. The option between no, systemic, or intralesional treatment should be c...

Kérion celsi: uma complicação rara da Tinea capitis

A Tinea capitis atinge maioritariamente crianças em idade escolar, sendo a transmissão possível através do contacto com animais infetados, solo, de pessoa para pessoa ou através de objectos contaminhados. A apresentação clínica varia desde uma dermatose descamativa não inflamatória até uma doença inflamatória com lesões eritematosas e descamativas com alopécia, podendo progredir para lesões do tipo Kérion celsi...

Enterocolite por citomegalovírus em lactente

Celulite da região orbitária: a realidade de 10 anos de um hospital nível 3

Doença invasiva pneumocócica: uma realidade sempre presente