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Neuroimaging in inborn errors of immunity
Sousa Brandão, Pedro; Conceição, Carla; Farela Neves, JoãoPurpose: Inborn errors of immunity (IEIs) are a heterogeneous group of germline disorders whose recognition is increasing but which remain underdiagnosed and associated with significant pediatric morbidity and mortality. This review aims to systematize the main neuroimaging manifestations of IEIs, addressing how neuroradiologists can identify characteristic patterns to support earlier diagnosis and guide clinic...
Systematic functional validation of IKAROS variants from patients and laborator...
Kuehn, Hye Sun; Gil Silva, Agustin A.; Klangkalya, Natchanun; Esteve-Sole, Ana; Goel, Shubham; Niemela, Julie E.; Stoddard, Jennifer L.; Chong, HeyThe transcription factor IKAROS plays an important role in lymphocyte development, differentiation, and as a tumor suppressor. To date, >70 IKAROS germ line heterozygous variants have been reported in patients with primary immunodeficiency (PID)/inborn errors of immunity (IEI) and leukemia, and this number continues to grow. Germ line IKAROS loss- and gain-of-function mutations have been linked to immunodeficie...
Tics, Functional Tics, TikTok and COVID-19: A Pediatric Case Report
Mendonça, Vanessa; Cabral, Marta; Chasqueira, Cláudia; Antunes Martins, Ana; Farela Neves, JoãoFunctional tics are a rare manifestation of the spectrum of functional neurological disorders. The phenomenological similarity with organic and simulated pathology poses important diagnostic challenges, but they should not be considered a diagnosis of exclusion. Recently there have been sudden outbreaks of bizarre tics in adolescent girls during the confinement imposed by the COVID-19 pandemic, whose appearance...
Cold Agglutinin Syndrome and Hemophagocytic Lymphohistiocytosis: An Unusual Com...
Sousa Nunes, Beatriz; Gouveia, Catarina; Kjollerstrom, Paula; Farela Neves, JoãoAutoimmune hemolytic anemia (AIHA) and hemophagocytic lymphohistiocytosis (HLH) are rare complications of infectious mononucleosis. The authors describe a 12-year-old male with acute infectious mononucleosis, hepatitis, cholestasis, and an autoimmune hemolytic disorder caused by cold agglutinins IgM (anti-i specificity). Clinical deterioration with persistent fever, anemia, and hepatosplenomegaly was consistent...
H Factor Deficiency: A Case with an Atypical Presentation
Rocha, Ana Paula; Borges, Madalena; Neves, Conceição; Farela Neves, JoãoWe report a case of an 18-month-old boy with H factor deficiency with atypical presentation: recurrent acute otitis media and several maternal family members with autoimmune disorders (vitiligo, thyroiditis and immune trombocytopenia). Blood tests revealed low C3 and AH50, as well as low properdin and H factor. I factor was normal. CFH gene molecular test confirmed the H factor deficiency diagnosis. This child ...
ERYTHRODERMIA: THE FIRST MANIFESTATION OF COMBINED IMMUNODEFICIENCY
Diamantino, Filipa; Farela Neves, João; Lopes, Maria JoãoTransfusion-associated graft-versus-host disease (TA-GVHD) is a rare complication of transfusion of nonirradiated blood components. It usually affects children in high-risk groups, including those who have primary immunodeficiencies (PIDs). It usually presents with skin, hepatic, digestive, and hematologic involvement and is normally fatal. We report a case of a nonlethal, attenuated, TA-GVHD which was the clue...
Ingestão de ibuprofeno pela primeira vez
Rodrigues, Vera; Farela Neves, João; Rocha Brito, Maria JoãoDescrevemos o caso de uma criança de três anos de idade, previamente saudável, internada por febre alta, exantema papulovesicular generalizado com predomínio no tronco, dorso e face, acompanhado de edema palpebral, fotofobia, hiperémia conjuntival com exsudado e sem lesões da córnea.
Abordagem do traumatismo craniano ligeiro na idade pediátrica: neuro imagem ou ...
Esteves, Isabel; Crispim, João; Farela Neves, João; Cunha, FlorbelaIntrodução: A abordagem dos traumatismos crânio encefálicos (TCE) exige avaliação do risco de lesão intra craniana (LIC). Não são consensuais as indicações para tomografia computorizada crânio encefálica (TC-CE). Objectivo: Rever a incidência de LIC no TCE ligeiro, identificar variáveis clínicas associadas e avaliar a efectividade de uma abordagem conservadora no pedido de TC-CE. Métodos: Estudo prospectivo his...
Doença pneumocóccica invasiva na era vacinal
Farela Neves, João; Rodrigues, Patrícia; Peres, Ana; Constantino, Cláudia; Cunha, FlorbelaIntrodução: A incidência da doença pneumocóccica invasiva (DPI) em Portugal em 2006 foi estimada em 30,9:100.000 em crianças com menos de 24 meses. Uma vacina conjugada heptavalente contra o Streptococcus pneumoniae (PCV7) está disponível desde Fevereiro de 2001 incluindo cerca de 61% dos serotipos responsáveis pela DPI em Portugal. Objectivos: Avaliar o impacto da DPI na população infantil da área de influênci...