The infections that affect the binomial mother-son during pregnancy are of great concern to obstetricians and pediatricians because of its frequency and difficulty in reaching an etiological diagnosis that is important for early treatment. Most newborns with congenital infection are asymptomatic; this shows the importance of laboratory screening for diseases that are transmitted during the pregnancy-puerperal cycle of women. This review aims to provide recommendations with regard to congenital infection by Treponema pallidum and Toxoplasma gondii. Syphilis is one of the diseases with the highest rates of mother-to-child transmission and is a public health problem still with insufficient control in the country. The diagnosis of maternal infection, performed with VDRL and confirmed with a treponemic test, indicates immediate treatment in pregnant women and their partners. The congenital infection is preventable through adequate maternal treatment with benzathine penicillin, which presents great cost-benefit value. Toxoplasmosis is a parasitosis of worldwide distribution, with high prevalence in our environment. The serological screening during the prenatal period allows the detection of susceptible pregnant women who should be prioritized in educational activities and monitored for possible seroconversion. The early treatment of pregnant women with acute infection can reduce the maternal-fetal transmission or fetal impairment improving the prognosis of infected newborns. Syphilis and congenital toxoplasmosis can be avoided with a high quality prenatal, which should be available and accessible. Preventive and diagnostic actions should be intensified in the monitoring of pregnant women, especially in the basic health units (UBS), to generate population impacting results.

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Introdução: as infecções congênitas são resultantes da transmissão vertical de microrganismos de gestantes infectadas para seus conceptos. Apesar dessas infecções, em geral, cursarem com pouca ou nenhuma manifestação clínica nas gestantes, a infecção fetal pode trazer morbimortalidade perinatal e na infância. Objetivo: identificar a prevalência das infecções congênitas encaminhadas ao Centro de Referência e Treinamento em Doenças Infecciosas e Parasitárias Orestes Diniz (CTR/DIP Orestes Diniz) e avaliar os métodos laboratoriais usados para o diagnóstico. Métodos: estudo transversal realizado em ambulatório de referência em doenças infecciosas, a partir de coleta de dados de prontuários de crianças com diagnóstico suspeito de infecção congênita. A confirmação diagnóstica baseou-se em testes sorológicos ou de biologia molecular, além de descrição de sintomatologia da criança. Resultados: um total de 513 crianças foram identificadas, sendo que 41,3% tiveram o diagnóstico confirmado, a maioria foi de toxoplasmose (45,35%) e sífilis (15,98%). Entre as crianças com diagnóstico confirmado, 28,85% apresentaram manifestações clínicas, enquanto que no grupo com diagnóstico indeterminado ou suspeito o percentual foi de 16,38%. As principais manifestações identificadas foram acometimento do sistema nervoso central (n=39) e alterações visuais (n=30). Conclusão: a confirmação de infecção foi definida em aproximadamente metade dos pacientes avaliados e a maioria das crianças foi assintomática ao nascimento. O pré-natal de qualidade e a propedêutica e tratamento precoce das crianças identificadas podem reduzir o impacto dessas infecções no nosso meio.

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BACKGROUND Mevalonate kinase deficiency is a very rare autosomal recessive inheritance that occurs due to the MVK gene mutation located on the long arm of chromosome 12. This mutation leads to a deficiency of the enzyme mevalonate kinase, involved in the synthesis of isoprenoids, and manifests as recurrent fever and elevation of acute phase reactants, in addition to lymphadenomegaly and hepatosplenomegaly, abdominal pain, vomiting, skin lesions, oral aphtous ulcers and arthralgia or arthritis. There are different phenotypes, hyperimmunoglobulinemia D and periodic fever syndrome, the milder one, and mevalonic aciduria, the more severe one. CASE REPORT Patient, 11 months old, male, with accentuated delay in neuropsychomotor development, wide fontanelles, ocular deviation down and nystagmus on the left and severe malnutrition. He was born in the preterm delivery, at home, and from birth presented with anemia and hepatosplenomegaly. She evolved with multiple hospitalizations, always with fever, pallor, food refusal, prostration and respiratory discomfort, as well as tachycardia, tachypnea, elevation of inflammation tests and leukocytosis with neutrophilia. Clinical presentation was always treated as sepsis, but with negative blood cultures. During the intercrisis periods, he maintained food refusal and respiratory discomfort. At 5 months, he evolved with respiratory failure, fever, worsening of hepatosplenomegaly and pancytopenia. Laboratory tests demonstrated hypofibrinogenemia, hyperferritinemia, hypertriglyceridemia and increased transaminases, which led to the suspicion of hemophagocytic syndrome. Treatment with dexamethasone 10mg/m2/SC was initiated, with excellent clinical response. Myelogram was inconclusive. The subsequent clinical worsening coincided with attempts to reduce corticotherapy. Subsequently it evolves with polyarthritis (hands and right knee). Retrospective analysis of the case led to suspicion of autoinflammatory disease, and the positive dosage of mevalonic acid in urine confirmed the diagnosis of mevalonic aciduria. Treatment with canaquinumab 2mg/kg was started every 4 weeks. After the first dose, there was cessation of fever, improvement of both food acceptance and respiratory discomfort. The patient was discharged from hospital 2 weeks after the second dose. Waiting for genetic panel results. CONCLUSION Autoinflammatory diseases bring daily diagnostic challenges to clinical practice, both because they mimic infectious conditions and because of the difficult access to confirmatory tests. For this case, the anti-IL1 drug is considered the best therapy, although there may be no complete response. Despite the off-label use in children under 2 years of age and under 7.5 kg, it was chosen due to the severity of the condition and the scarce therapeutic options, obtaining an excellent response so far.