Figure 12 - available via license: Creative Commons Attribution 4.0 International
Content may be subject to copyright.
Fetal MRI performed on a fetus affected by Rubella at 27 weeks of gestational age, showing bilateral temporal cysts (black arrows in (A,B)), and subependymal cysts (white arrows in (B)). Neonatal MRI performed on the same patient at six days after birth, showing temporal cysts (black arrows in (C,D)) ventricular dilatation (black asterisks in (C,D)), and subependymal cysts (white arrow in (D)).
Source publication
Congenital infections represent a challenging and varied clinical scenario in which the brain is frequently involved. Therefore, fetal and neonatal neuro-imaging plays a pivotal role in reaching an accurate diagnosis and in predicting the clinical outcome. Congenital brain infections are characterized by various clinical manifestations, ranging fro...
Citations
... Congenital cytomegalovirus (CMV) infection may affect the CNS and result in HC, temporal cysts, delayed myelination, microcephaly (MiC) or sometimes, MC, with a whole plethora of cerebral or sensorineural abnormalities [63]. Associated finger changes may consist of brachydactyly with rudimentary fingernails, finger agenesis, and syndactyly [64,139]. ...
... Parvovirus or rubella may result in HC and cerebral vasculitis/vasculopathy [63]. ...
Macrocephaly, characterized by an abnormally large head circumference, often co-occurs with distinctive finger changes, presenting a diagnostic challenge for clinicians. This review aims to provide a current synthetic overview of the main acquired and genetic etiologies associated with macrocephaly and finger changes. The genetic cause encompasses several categories of diseases, including bone marrow expansion disorders, skeletal dysplasias, ciliopathies, inherited metabolic diseases, RASopathies, and overgrowth syndromes. Furthermore, autoimmune and autoinflammatory diseases are also explored for their potential involvement in macrocephaly and finger changes. The intricate genetic mechanisms involved in the formation of cranial bones and extremities are multifaceted. An excess in growth may stem from disruptions in the intricate interplays among the genetic, epigenetic, and hormonal factors that regulate human growth. Understanding the underlying cellular and molecular mechanisms is important for elucidating the developmental pathways and biological processes that contribute to the observed clinical phenotypes. The review provides a practical approach to delineate causes of macrocephaly and finger changes, facilitate differential diagnosis and guide for the appropriate etiological framework. Early recognition contributes to timely intervention and improved outcomes for affected individuals.
... Effects on the fetal brain following maternal infection include cerebral vasculitis resulting in arterial infarction or parenchymal haemorrhage. 85 Parvovirus infection is associated with neuronal injury secondary to parenchymal calcifications, arterial infarction, cerebellar haemorrhage, and cortical malformations. 85 Varicella zoster virus (VZV). ...
... 85 Parvovirus infection is associated with neuronal injury secondary to parenchymal calcifications, arterial infarction, cerebellar haemorrhage, and cortical malformations. 85 Varicella zoster virus (VZV). Congenital VZV manifestations include scar and limb deformities, ocular abnormalities and brain abnormalities. ...
Viral infections are common in children. Many can be asymptomatic or have delayed health consequences. In view of increasing availability of point-of-care viral detection technologies, with possible application in newborn screening, this review aimed to (1) identify potentially asymptomatic viruses detectable in infants under one year old, via saliva/nasopharyngeal swab, and (2) describe associations between viruses and long-term health conditions. We systematically searched Embase(Ovid), Medline(Ovid) and PubMed, then further searched the literature in a tiered approach. From the 143 articles included, 28 potentially asymptomatic viruses were identified. Our second search revealed associations with a range of delayed health conditions, with most related to the severity of initial symptoms. Many respiratory viruses were linked with development of recurrent wheeze or asthma. Of note, some potentially asymptomatic viruses are linked with later non-communicable diseases: adenovirus serotype 36 and obesity, Enterovirus-A71 associated Hand, Foot, Mouth Disease and Attention-Deficit Hyperactivity Disorder, Ebstein Barr Virus (EBV) and malignancy, EBV and multiple sclerosis, HHV-6 and epilepsy, HBoV-1 and lung fibrosis and Norovirus and functional gastrointestinal disorders. Our review identified many potentially asymptomatic viruses, detectable in early life with potential delayed health consequences, that could be important to screen for in the future using rapid point-of-care viral detection methods. IMPACT: Novel point-of-care viral detection technologies enable rapid detection of viruses, both old and emerging. In view of increasing capability to screen for viruses, this is the first review to explore which potentially asymptomatic viruses, that are detectable using saliva and/or nasopharyngeal swabs in infants less than one year of age, are associated with delayed adverse health conditions. Further research into detecting such viruses in early life and their delayed health outcomes may pave new ways to prevent non-communicable diseases in the future.
... Chronic cerebral neuropathy in ZIKV-infected children consists of intracranial calcifications, typically subcortical ( Fig. 4A and B), increased fluid spaces (ventricular and extra-axial) (Fig. 4C and D), cortical thinning with abnormalities in the convolutions (polymicrogyria, pachygyria, and agyria), hypoplasia or absence of the corpus callosum, decreased myelin, and hypoplasia of the cerebellum or cerebellar vermis [67][68][69] . ...
... Furthermore, the detection of NNT in samples with negative IgM and positive IgG markers 73 . When congenital infection is suspected, it is advisable to perform laboratory tests to determine the presence of cytomegalovirus, herpes simplex, rubella, human immunodeficiency virus, toxoplasmosis, and syphilis infection to rule out other possible etiologies 54,69 . ...
In February 2016, the World Health Organization declared Zika virus (ZIKV) infection a public health emergency of international concern because it caused congenital Zika syndrome (CZS). The CZS is considered a specific pattern of birth defects caused by ZIKV infection, which is transmitted by the bite of the Aedes aegypti mosquito. The CZS clinical manifestations are broad and nonspecific, including microcephaly, subcortical calcifications, ocular alterations, congenital contractures, early hypertonia, and pyramidal as well as extrapyramidal symptoms. The ZIKV has gained great importance because it has affected a large percentage of the population worldwide during the last few years, despite the measures implemented by international organizations. The pathophysiology and non-vectorial transmission routes of the virus are still under study. The diagnosis is made upon suspicion of ZIKV infection, the patient’s clinical manifestations, and it is confirmed by molecular laboratory tests demonstrating the presence of viral particles. Unfortunately, there is no specific treatment or vaccine for this condition; however, patients receive multidisciplinary care and constant monitoring. Therefore, the strategies that have been implemented are directed toward preventive measures and vector control.
... Congenital cytomegalovirus encephalitis belongs to the Herpesviridae family and is transmitted through direct contact of mucous surfaces with infectious body fluids [16][17][18]. Congenital cytomegalovirus infection rate ranges from 2 to 20 per 1,000 live births and is the most frequent congenital infection worldwide. The timing of seroconversion/fetal infection is highly correlated with the incidence of postnatal sequelae, with periconceptional and early gestational exposure associated with higher risk of symptomatic disease at birth. ...
... It is a major cause of neurodevelopmental sequelae and the most common cause of nongenetic sensorineural hearing loss (25-30%), with 10-20% of infants being symptomatic at birth and sequelae later seen in initially asymptomatic newborns. Long-term sequelae are found in 40-60% of the symptomatic survivors and 10-20% of asymptomatic patients [17]. ...
... Congenital rubella infection is a rare disease resulting from maternal infection with the rubella virus and has largely disappeared since the implementation of immunization programs [16,17,19]. Congenital rubella infection not only affects the brain, but also the heart, hearing, vision and growth. ...
White matter changes are seen in a spectrum of disorders in children and adolescents. Understanding their distribution and appearance helps to reach diagnoses in daily radiologic practice. This pictorial essay will outline the magnetic resonance imaging (MRI) appearances of diseases with white matter changes including demyelinating diseases, dysmyelinating disorders/leukodystrophies, infections, autoimmune diseases, vascular causes, mitochondrial disorders and neurocutaneous syndromes, along with a brief overview of clinical aspects of the diseases such as typical age of presentation, etiology, symptoms and signs and treatment options. This article highlights important features in common white matter diseases in children and adolescents.
The Spike protein enables the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection by binding to multiple receptors, including the angiotensin-converting enzyme 2 (ACE2). Scientific studies also indicate that Spike is involved in severe forms of coronavirus disease 2019 (COVID-19), "long-haul COVID diseases" - also known as "long COVID syndromes" or "post-acute sequelae of SARS-CoV-2 infection" (PACS) - or, recently, in adverse reactions to lipid nanoparticle-messenger ribonucleic acid (mRNA) vaccines or other anti-COVID19 products. Numerous mutations, notably within the subunit 1 of Spike (S1), prevent neutralization by antibodies, but more generally, the virus has developed numerous strategies to avoid immune system surveillance, especially type-I interferons (IFN-I). Meanwhile, a “hyperinflammatory” state, named “cytokine storm,” sets in. However, what role does the Spike protein play in the immune escape mechanisms? Can its inflammatory activities affect IFN-I? Does Spike block IFN-I or hijack them for the virus benefits? What are the other potential consequences? This article was written to provide an up-to-date and more general overview of the impact of the Spike protein on the innate immune system and its effectors at the molecular level.
Objetivo: Realizar uma revisão integrativa da literatura afim de identificar as principais alterações neurológicas causadas por infecções congênitas e perinatais nas crianças. Metodologia: Trata-se de revisão integrativa a partir de proposta de Ganong, que se baseia na coleta de dados disponíveis na literatura e compará-los para aprofundar o conhecimento do tema investigado. Scientific Eletronic Library Online (SCIELO), Biblioteca Virtual em Saúde (BVS), National Institutes of Health (PubMed), Literatura Latino Americana e do Caribe em Ciências da Saúde (LILACS). Resultados: A microcefalia se mostrou o distúrbio neurológico mais prevalente entre as infecções congênitas do grupo TORCH, seguida pelas calcificações intracranianas. Dentre as infecções, CMV se destacou como sendo a principal causadora de vários destes distúrbios neurológicos. Conclusão: Através desta revisão que foi visto que a maioria das infecções TORCHs estão associadas a estes distúrbios neurológicos. O CMV mostrou ter forte tropismo pelas células do tecido nervoso.
This case report presents a patient with a monochorionic twin pregnancy, development of twin–twin transfusion-syndrome (TTTS) and polymicrogyria (PMG) of one fetus. Due to TTTS grade 3, fetoscopic laser ablation was performed at gestational week 16+1. Sonographic follow-up showed a cortical malformation of the right parietal lobe in the former donor, which was identified as PMG by MRI scans. We describe the course of the pregnancy, as well as the clinical, especially neurological, development of the child over 3 years. This case report documents the power of neuroplasticity, leading to comparably good neurological outcome in an extensive, likely acquired cortical malformation. Further, it emphasises the importance of a thorough prenatal imaging characterisation of malformations of cortical development for optimal prenatal counselling of these cases.
This review examines the recent literature on the management of herpes simplex virus (HSV) infections in neonates. We summarized the three clinical categories of maternal HSV infection during pregnancy (primary first episode, nonprimary first episode, or recurrent episode) and the mechanisms of fetal damage. Considering when the transmission of the infection from the mother to the fetus/newborn occurs, three types of neonatal infection can be distinguished: intrauterine infection (5% of cases), postnatal infection (10% of cases), and perinatal infections (85% of cases). Neonatal presentation could range from a limited disease with skin, eye, and mouth disease to central nervous system disease or disseminated disease: the treatment with acyclovir should be tailored according to symptoms and signs of infection, and virological tests. These children need a multidisciplinary follow-up, to timely intercept any deviation from normal neurodevelopmental milestones. Prevention strategies remain a challenge, in the absence of an available vaccine against HSV.
A toxoplasmose congênita (TC) representa um problema de saúde pública, visto que a transmissão vertical (materno-fetal) pode acarretar em sérios problemas de saúde ao feto ou até mesmo levá-lo a óbito. A doença é causada pelo protozoário Toxoplasma gondii e geralmente é assintomática; entretanto, os riscos ao desenvolvimento fetal justificam o rastreio ativo da toxoplasmose durante a gravidez. Ademais, os riscos de transmissão vertical são maiores em gestantes expostas à infecção primária pelo toxoplasma, em comparação com aquelas que foram expostas à infecção antes da concepção. Nesse sentido, métodos diagnósticos que permitam diferenciar o tempo de exposição ao patógeno, como o teste de avidez IgG, são extremamente importantes para a conduta em relação ao tratamento da doença na gravidez. Além disso, cerca de 85% dos recém nascidos com TC não apresentam sinais clínicos evidentes ao nascimento; entretanto, estudos recentes demonstram que em torno de 19% dos lactentes infectados desenvolvem pelo menos uma manifestação clínica da doença durante o primeiro ano de vida. Dessa forma, quando sintomáticos, os recém nascidos apresentam a clássica tríade de coriorretinite (escotoma, dor, fotofobia, visão turva e lacrimejamento excessivo), hidrocefalia e calcificações intracranianas. Ainda, podem manifestar febre, hepatoesplenomegalia, icterícia, anemia, prematuridade e grave restrição do crescimento intrauterino associado a baixo peso ao nascer. Em relação ao tratamento, o manejo da toxoplasmose depende da imunidade do hospedeiro e do status da doença, por isso existem várias combinações de drogas antiparasitárias e antibacterianas que são utilizadas no controle dessa doença. Outrossim, a prevenção da doença é extremamente importante, medidas profiláticas devem ser recomendadas a todas as gestantes susceptíveis à infecção pelo toxoplasma; concomitantemente, estudos em andamento apontam a possibilidade da invenção de uma vacina no futuro, o que possibilitaria a redução da transmissão da doença e das complicações materno-fetais.
