Hepatosplenic involvement of tuberculosis: an uncommon presentation that demands attention in specific scenarios.

Abdominal tuberculosis (TB), a potential differential diagnosis for acute and chronic abdomen, should be considered in specific situations, such as immunosuppressant or biological drug use, HIV, or in patients residing in endemic areas. Although the presence of thoracic tuberculosis may indicate abdominal TB, only 15% of patients with abdominal TB have evidence of pulmonary disease. Involvement of the liver and spleen is a common autopsy finding in patients with disseminated TB. However, the most common pattern is of fine miliary lesions. Hepatic involvement with a macronodular pattern, a rare occurrence, is linked to dissemination through the portal vein. The splenic macronodular form, an extremely rare presentation, can manifest as solitary or multiple nodules, oval or round, with a variable appearance reflecting different stages of the disease, adding to the uniqueness of this case.

Amyloidosis: a rare cause of severe acute liver failure.

Gastrointestinal amyloidosis can be primary, more associated with monoclonal plasma cell dyscrasia, or secondary, usually secondary to a tissue-destructive, chronic inflammatory process (such as inflammatory bowel disease, for example) and long-term dialysis. The rare presentation of severe acute liver failure in systemic amyloidosis can make this diagnosis/ management more difficult. Hepatomegaly with signs of diffuse infiltrative disease and periportal involvement associated with thoracic and other abdominal radiological findings in the appropriate clinical context may constitute a diagnostic imaging clue in this challenge.

When the adrenals alert us to a systemic fungal disease.

We present a patient referred for investigation of adrenal insufficiency, confirmed due to disseminated paracoccidioidomycosis (PCM), with abdominal and central nervous system (CNS) involvement. Establishing the pathogenesis and immunological processes involved in chronic or latent infections by PCM has been challenging. Medical doctors caring for patients with immunodeficiencies should learn about these fungal infections to properly guide travel planning and have this possibility in the diagnostic arsenal when the patient returns from endemic areas. After 13 months of treatment, the patient showed good clinical evolution, and we repeated imaging exams, showing partial improvement of the preview lesions. Diagnosis and treatment can prevent catastrophic events.

Imaging manifestations of von Hippel-Lindau disease: an illustrated guide focusing on abdominal manifestations.

Von Hippel-Lindau (VHL) disease is a monogenic autosomal dominant disorder with germline mutations of the VHL anti-oncogene on the short arm of chromosome 3 (3p25-26). It affects 1:36,000-50,000 individuals, with a penetrance greater than 90% at 65 years of age. Although of variable onset and presentation, with pleiotropism even among members of the same family who share a specific mutation, VHL disease usually manifests initially in young adults. It predisposes to the development of benign and malignant tumors of the central nervous system (CNS) and visceral organs. The clinical diagnosis of VHL disease can be made in the following circumstances: a) in patients with a family history of the disease and at least one of the tumors characteristic of it (e.g., retinal or CNS hemangioblastomas, clear cell renal cell carcinoma, pancreatic neuroendocrine tumors, and endolymphatic sac tumors); b) in patients with two or more CNS hemangioblastomas; c) or in patients with a retinal or CNS hemangioblastoma plus at least one visceral tumor characteristic of the disease, excluding renal and epididymal cysts. Imaging plays an important role in the diagnosis and follow-up of patients with VHL disease. This pictorial essay presents characteristic images of abdominal manifestations of VHL disease-related tumors that all radiologists should be aware of.

A doença de von Hippel-Lindau (VHL) é uma desordem autossômica dominante monogênica com mutações na linha germinativa do antioncogene VHL, no braço curto do cromossomo três (3p25-26). Afeta 1:36.000-50.000 indivíduos, com penetrância superior a 90% aos 65 anos de idade. Embora tenha início e apresentação variáveis, com pleiotropismo mesmo entre membros da mesma família que partilham uma mutação específica, usualmente manifesta-se de início em adultos jovens e predispõe ao desenvolvimento de tumores benignos e malignos no sistema nervoso central (SNC) e órgãos viscerais. Clinicamente, o diagnóstico pode ser realizado em uma das seguintes circunstâncias: a) em pacientes com história familiar de doença de VHL e pelo menos um dos tumores característicos relacionados à síndrome (como hemangioblastomas retinianos ou do SNC, carcinoma de células renais de células claras, tumores neuroendócrinos pancreáticos e tumores do saco endolinfático); b) dois ou mais hemangioblastomas do SNC; c) um hemangioblastoma retiniano ou do SNC mais pelo menos um tumor característico visceral relacionado à síndrome, excluindo-se cistos renais e epididimários. Nesse contexto, a imagem ocupa importante papel no diagnóstico e acompanhamento desses pacientes. Este ensaio iconográfico apresenta imagens características de manifestações abdominais de tumores relacionados à doença de VHL que todos os radiologistas devem conhecer.

Imaging manifestations of von Hippel-Lindau disease: an illustrated guide focusing on abdominal manifestations / Manifestações de imagem da doença de von Hippel-Lindau: um guia ilustrado das manifestações abdominais

Abstract Von Hippel-Lindau (VHL) disease is a monogenic autosomal dominant disorder with germline mutations of the VHL anti-oncogene on the short arm of chromosome 3 (3p25-26). It affects 1:36,000-50,000 individuals, with a penetrance greater than 90% at 65 years of age. Although of variable onset and presentation, with pleiotropism even among members of the same family who share a specific mutation, VHL disease usually manifests initially in young adults. It predisposes to the development of benign and malignant tumors of the central nervous system (CNS) and visceral organs. The clinical diagnosis of VHL disease can be made in the following circumstances: a) in patients with a family history of the disease and at least one of the tumors characteristic of it (e.g., retinal or CNS hemangioblastomas, clear cell renal cell carcinoma, pancreatic neuroendocrine tumors, and endolymphatic sac tumors); b) in patients with two or more CNS hemangioblastomas; c) or in patients with a retinal or CNS hemangioblastoma plus at least one visceral tumor characteristic of the disease, excluding renal and epididymal cysts. Imaging plays an important role in the diagnosis and follow-up of patients with VHL disease. This pictorial essay presents characteristic images of abdominal manifestations of VHL disease-related tumors that all radiologists should be aware of.

Resumo A doença de von Hippel-Lindau (VHL) é uma desordem autossômica dominante monogênica com mutações na linha germinativa do antioncogene VHL, no braço curto do cromossomo três (3p25-26). Afeta 1:36.000-50.000 indivíduos, com penetrância superior a 90% aos 65 anos de idade. Embora tenha início e apresentação variáveis, com pleiotropismo mesmo entre membros da mesma família que partilham uma mutação específica, usualmente manifesta-se de início em adultos jovens e predispõe ao desenvolvimento de tumores benignos e malignos no sistema nervoso central (SNC) e órgãos viscerais. Clinicamente, o diagnóstico pode ser realizado em uma das seguintes circunstâncias: a) em pacientes com história familiar de doença de VHL e pelo menos um dos tumores característicos relacionados à síndrome (como hemangioblastomas retinianos ou do SNC, carcinoma de células renais de células claras, tumores neuroendócrinos pancreáticos e tumores do saco endolinfático); b) dois ou mais hemangioblastomas do SNC; c) um hemangioblastoma retiniano ou do SNC mais pelo menos um tumor característico visceral relacionado à síndrome, excluindo-se cistos renais e epididimários. Nesse contexto, a imagem ocupa importante papel no diagnóstico e acompanhamento desses pacientes. Este ensaio iconográfico apresenta imagens características de manifestações abdominais de tumores relacionados à doença de VHL que todos os radiologistas devem conhecer.

Hepatobiliary phases in magnetic resonance imaging using liver-specific contrast for focal lesions in clinical practice.

BACKGROUND: Challenging lesions, difficult to diagnose through non-invasive methods, constitute an important emotional burden for each patient regarding a still uncertain diagnosis (malignant x benign). In addition, from a therapeutic and prognostic point of view, delay in a definitive diagnosis can lead to worse outcomes. One of the main innovative trends currently is the use of molecular and functional methods to diagnosis. Numerous liver-specific contrast agents have been developed and studied in recent years to improve the performance of liver magnetic resonance imaging (MRI). More recently, one of the contrast agents introduced in clinical practice is gadoxetic acid (gadoxetate disodium). AIM: To demonstrate the value of the hepatobiliary phases using gadoxetic acid in MRI for the characterization of focal liver lesions (FLL) in clinical practice. METHODS: Overall, 302 Lesions were studied in 136 patients who underwent MRI exams using gadoxetic acid for the assessment of FLL. Two radiologists independently reviewed the MRI exams using four stages, and categorized them on a 6-point scale, from 0 (lesion not detected) to 5 (definitely malignant). The stages were: stage 1- images without contrast, stage 2- addition of dynamic phases after contrast (analogous to usual extracellular contrasts), stage 3- addition of hepatobiliary phase after 10 min (HBP 10'), stage 4- hepatobiliary phase after 20 min (HBP 20') in addition to stage 2. RESULTS: The interobserver agreement was high (weighted Kappa coefficient: 0.81- 1) at all stages in the characterization of benign and malignant FLL. The diagnostic weighted accuracy (Az) was 0.80 in stage 1 and was increased to 0.90 in stage 2. Addition of the hepatobiliary phase increased Az to 0.98 in stage 3, which was also 0.98 in stage 4. CONCLUSION: The hepatobiliary sequences improve diagnostic accuracy. With growing potential in the era of precision medicine, the improvement and dissemination of the method among medical specialties can bring benefits in the management of patients with FLL that are difficult to diagnose.

Imaging manifestations of von Hippel-Lindau disease: an illustrated guide focusing on the central nervous system.

Von Hippel-Lindau (VHL) disease is a rare, autosomal dominant inherited syndrome that affects the germline of the VHL gene, a tumor suppressor gene. VHL disease is characterized by the multisystemic development of a variety of benign and malignant tumors, especially in the central nervous system (CNS). Such tumors include retinal and CNS hemangioblastomas, as well as endolymphatic sac tumors. The various tumor sites are responsible for the diversity of signs and symptoms related to the disease. The mean age at symptom onset is 33 years. Despite medical advances, the average life expectancy of patients with VHL disease is 49 years. Imaging plays a pivotal role in the clinical diagnosis and is essential to the follow-up of patients with VHL disease. This pictorial essay describes characteristic CNS manifestations of VHL disease-related tumors that all radiology residents should be aware of.

A doença de von Hippel-Lindau (VHL) é uma síndrome hereditária autossômica dominante rara que afeta a linha germinativa do gene VHL, um gene supressor tumoral. A doença de VHL é caracterizada pelo desenvolvimento multissistêmico de uma variedade de tumores benignos e malignos, especialmente no sistema nervoso central (SNC). Dentre eles, destacam-se hemangioblastomas retinianos e do SNC, e o tumor do saco endolinfático. Os diferentes locais dos tumores justificam a diversidade de sinais e sintomas relacionados à doença, que usualmente se manifestam com a idade média de 33 anos. Apesar dos avanços da medicina, a expectativa de vida média desses pacientes é de 49 anos. Exames de imagem têm papel fundamental no diagnóstico e são essenciais no seguimento dos pacientes com doença de VHL. Este ensaio iconográfico descreve as manifestações características dos tumores do SNC relacionados à doença de VHL que todos os residentes de radiologia devem saber.

Manifestações de imagem da doença de von Hippel-Lindau: um guia ilustrado com foco no sistema nervoso central / Imaging manifestations of von Hippel-Lindau disease: an illustrated guide focusing on the central nervous system

Abstract A doença de von Hippel-Lindau (VHL) é uma síndrome hereditária autossômica dominante rara que afeta a linha germinativa do gene VHL, um gene supressor tumoral. A doença de VHL é caracterizada pelo desenvolvimento multissistêmico de uma variedade de tumores benignos e malignos, especialmente no sistema nervoso central (SNC). Dentre eles, destacam-se hemangioblastomas retinianos e do SNC, e o tumor do saco endolinfático. Os diferentes locais dos tumores justificam a diversidade de sinais e sintomas relacionados à doença, que usualmente se manifestam com a idade média de 33 anos. Apesar dos avanços da medicina, a expectativa de vida média desses pacientes é de 49 anos. Exames de imagem têm papel fundamental no diagnóstico e são essenciais no seguimento dos pacientes com doença de VHL. Este ensaio iconográfico descreve as manifestações características dos tumores do SNC relacionados à doença de VHL que todos os residentes de radiologia devem saber.

Abstract Von Hippel-Lindau (VHL) disease is a rare, autosomal dominant inherited syndrome that affects the germline of the VHL gene, a tumor suppressor gene. VHL disease is characterized by the multisystemic development of a variety of benign and malignant tumors, especially in the central nervous system (CNS). Such tumors include retinal and CNS hemangioblastomas, as well as endolymphatic sac tumors. The various tumor sites are responsible for the diversity of signs and symptoms related to the disease. The mean age at symptom onset is 33 years. Despite medical advances, the average life expectancy of patients with VHL disease is 49 years. Imaging plays a pivotal role in the clinical diagnosis and is essential to the follow-up of patients with VHL disease. This pictorial essay describes characteristic CNS manifestations of VHL disease-related tumors that all radiology residents should be aware of.

Association of IL-9, IL-10, and IL-17 Cytokines With Hepatic Fibrosis in Human Schistosoma mansoni Infection.

This is a case series study to evaluate immunological markers associated with schistosomiasis advanced fibrosis, including 69 patients from an endemic area from the State of Sergipe and from the Hepatology Service of the University Hospital in Sergipe, Brazil. Hepatic fibrosis was classified based on Niamey protocol for ultrasonography (US). Immune response to Schistosoma mansoni antigens was evaluated by stimulating peripheral blood mononuclear cells (PBMCs) from these patients with either adult worm (SWAP-10 µg/ml) or egg (SEA-10 µg/ml) antigens or purified protein derivative of turberculin (PPD-10 µg/ml) or phytohemagglutinin (PHA-1 µg/ml) for 72 h. The levels of IFN-γ, TNF-α, IL-5, IL-10, and IL-17 were measured in these supernatants by ELISA and IL-9 by Luminex. Single nucleotide polymorphisms in IL-17, IL10, and CD209 genes were genotyped using TaqMan probe by qPCR. Higher levels of IL-9, IL-10, and IL-17 were found in PBMC supernatants of patients with advanced hepatic fibrosis. Direct correlations were detected between IL-9 and IL-17 levels with US spleen sizes, portal vein diameters, and periportal thickening. The CD209 rs2287886 AG polymorphism patients produce higher IL-17 levels. Together, these data suggest a role of these cytokines in the immunopathogenesis of advanced fibrosis in human schistosomiasis.

Tubulovillous adenoma of the duodenal papilla: radiological-endoscopic and anatomopathological correlation in the surgical proposal.

Tubulovillous adenomas of the duodenal ampulla are rare neoplasms. The present report describes a case with radiological-endoscopic and pathological correlation in which the patient underwent duodenal pancreatectomy with good postoperative progression. With advanced imaging methods, especially magnetic resonance and endoscopic ultrasound, locoregional aspects and extraluminal, lymphovascular, and metastatic invasion have been increasingly discussed as contributors to therapeutic decision making. This progression improves lesion staging and is especially useful in selecting eligible candidates for endoscopic treatment.

SARS-CoV-2 and acute pancreatitis: a new etiological agent?

We hereby report a case of COVID-19 who presented acute pancreatitis (AP) without any other risk factors, which emphasizes the possibility of considering SARS-CoV-2 as a new etiological agent for AP. We suggest the study of pancreatic enzymes in COVID-19 patients with gastrointestinal symptoms, which may reveal pancreatic involvement that is not yet recognized in this population.

Tubulovillous adenoma of the duodenal papilla: radiological-endoscopic and anatomopathological correlation in the surgical proposal

SUMMARY Tubulovillous adenomas of the duodenal ampulla are rare neoplasms. The present report describes a case with radiological-endoscopic and pathological correlation in which the patient underwent duodenal pancreatectomy with good postoperative progression. With advanced imaging methods, especially magnetic resonance and endoscopic ultrasound, locoregional aspects and extraluminal, lymphovascular, and metastatic invasion have been increasingly discussed as contributors to therapeutic decision making. This progression improves lesion staging and is especially useful in selecting eligible candidates for endoscopic treatment.

RESUMO Os adenomas túbulo-vilosos da ampola duodenal são neoplasias raras. Neste trabalho apresentamos um caso com correlação radiológico-endoscópica e patológica, tendo a paciente sido submetida à duodenopancreatectomia com boa evolução pós-operatória. Com os avanços dos métodos de imagem, em especial da ressonância magnética e ultrassonografia endoscópica, aspectos locorregionais, além da invasão extraluminal, linfovascular e metastática, têm sido discutidos de maneira crescente como contribuintes na decisão terapêutica. Essa evolução contribui para o melhor estadiamento destas lesões e é especialmente útil para selecionar candidatos elegíveis ao tratamento endoscópico.

The value of morphofunctional magnetic resonance imaging with hepatospecific contrast agent in the characterization of hepatocellular carcinoma in a non-cirrhotic patient with hepatitis C.

Hepatocellular carcinoma in patients with hepatitis C in the absence of cirrhosis is uncommon. We demonstrate the importance of morphofunctional magnetic resonance imaging (MRI) with a hepatospecific contrast agent by describing an asymptomatic female patient with HCV, who presented with a nodule detected on ultrasound. She underwent inconclusive computed tomography, presenting no signs of chronic liver disease. MRI with hepatospecific contrast providing functional information combined with the superior tissue contrast inherent to this method stands out for its greater accuracy with the possibility of not resorting to invasive diagnostic methods. With increasing experience and the dissemination of this new diagnostic modality in the medical field, its use and other potential benefits of morphofunctional MRI with hepatospecific contrast agents may be established, benefiting patients with challenging focal liver lesions.

The value of morphofunctional magnetic resonance imaging with hepatospecific contrast agent in the characterization of hepatocellular carcinoma in a non-cirrhotic patient with hepatitis C

SUMMARY Hepatocellular carcinoma in patients with hepatitis C in the absence of cirrhosis is uncommon. We demonstrate the importance of morphofunctional magnetic resonance imaging (MRI) with a hepatospecific contrast agent by describing an asymptomatic female patient with HCV, who presented with a nodule detected on ultrasound. She underwent inconclusive computed tomography, presenting no signs of chronic liver disease. MRI with hepatospecific contrast providing functional information combined with the superior tissue contrast inherent to this method stands out for its greater accuracy with the possibility of not resorting to invasive diagnostic methods. With increasing experience and the dissemination of this new diagnostic modality in the medical field, its use and other potential benefits of morphofunctional MRI with hepatospecific contrast agents may be established, benefiting patients with challenging focal liver lesions.

RESUMO O surgimento de carcinoma hepatocelular em pacientes portadores de hepatite C na ausência de cirrose é de ocorrência pouco comum. Demonstramos a importância da ressonância magnética (RM) morfofuncional com contraste hepatoespecífico por meio da descrição de uma paciente do sexo feminino, assintomática, portadora do vírus da hepatite C (VHC), que se apresentou com nódulo detectado na ultrassonografia. Realizou tomografia computadorizada inconclusiva, sem sinais de hepatopatia crônica. A RM com contraste hepatoespecífico, ao proporcionar informações funcionais, somado ao superior contraste tecidual inerente ao método, destaca-se pela maior acurácia, com a possiblidade de não se recorrer a métodos diagnósticos invasivos. Com o acúmulo de experiência e divulgação dessa nova modalidade diagnóstica no meio médico, sua utilização e outros potenciais benefícios da RM morfofuncional com contraste hepatoespecífico podem vir a se estabelecer, beneficiando pacientes com lesões hepáticas focais desafiadoras.

Immunoglobulin G4-related disease: autoimmune pancreatitis and extrapancreatic manifestations.

We present a case of immunoglobulin G4 (IgG4)-related disease with pancreatic and extrapancreatic involvement, including the biliary and renal systems. Given the importance of imaging methods for the diagnosis of IgG4-related disease and its differentiation from pancreatic adenocarcinoma, we emphasize important abdominal computed tomography and magnetic resonance imaging findings related to this recently recognized systemic autoimmune disease.

Apresentamos um caso de doença relacionada à IgG4, com acometimento pancreático e extrapancreático biliar e renal. Dada a relevância dos métodos de imagem para seu diagnóstico e diferenciação com o adenocarcinoma pancreático, ressaltamos os principais achados abdominais na tomografia computadorizada e ressonância magnética desta doença autoimune sistêmica recentemente reconhecida.

Immunoglobulin G4-related disease: autoimmune pancreatitis and extrapancreatic manifestations / Doença relacionada à IgG4: pancreatite autoimune e manifestações extrapancreáticas

Abstract We present a case of immunoglobulin G4 (IgG4)-related disease with pancreatic and extrapancreatic involvement, including the biliary and renal systems. Given the importance of imaging methods for the diagnosis of IgG4-related disease and its differentiation from pancreatic adenocarcinoma, we emphasize important abdominal computed tomography and magnetic resonance imaging findings related to this recently recognized systemic autoimmune disease.

Resumo Apresentamos um caso de doença relacionada à IgG4, com acometimento pancreático e extrapancreático biliar e renal. Dada a relevância dos métodos de imagem para seu diagnóstico e diferenciação com o adenocarcinoma pancreático, ressaltamos os principais achados abdominais na tomografia computadorizada e ressonância magnética desta doença autoimune sistêmica recentemente reconhecida.

Aspectos ultrassonográficos associados à morbidade de formas clínicas crônicas de esquistossomose mansônica, utilizando-se protocolo proposto pela Organização Mundial da Saúde / Sonographic features associated with morbidity of chronic clinical presentations of schistosomiasis mansoni using the protocol proposed by the World Health Organization

OBJECTIVE: To evaluate sonographic features associated with morbidity in patients with chronic clinical presentations of schistosomiasis mansoni, according to the protocol proposed by the World Health Organization (WHO). MATERIALS AND METHODS: Two distinctive populations were evaluated: a) patients from an endemic area, and b) patients from a tertiary institution, with histopathologically confirmed periportal fibrosis. Inclusion criteria: diagnosis confirmed by parasitological stool examination for Schistosoma mansoni (Kato-Katz method). Exclusion criteria: positive serology for HIV, HTLV-1, HBV or HCV. The Niamey protocol on ultrasonography proposed by the WHO was utilized. RESULTS: As the measures of periportal spaces were isolatedly evaluated, no alteration was observed in 21% of the tertiary institution patients with advanced disease. As all parameters of the Niamey protocol were considered, 100% of patients from the tertiary institution, with severe disease, presented advanced periportal fibrosis. In hepatosplenic patients from endemic areas, fibrosis was not identified at ultrasonography. CONCLUSION: The sonographic protocol proposed by the WHO can detect advanced periportal fibrosis in patients with severe form of disease with higher sensitivity than the isolated measurement of periportal space. The complexity involved in the sonographic identification of early stages of periportal fibrosis in endemic areas may give rise to the field of diagnostic supplementation and to a continued improvement of sonographic protocols in these areas.

OBJETIVO: Avaliar aspectos ultrassonográficos associados à morbidade em pacientes com formas clínicas crônicas de esquistossomose mansônica, utilizando-se protocolo proposto pela Organização Mundial da Saúde (OMS). MATERIAIS E MÉTODOS: Foram avaliadas duas populações distintas: a) área endêmica e b) institucional terciária, com histopatológico confirmando fibrose. Critérios de inclusão: diagnóstico confirmado por parasitológico de fezes para Schistosoma mansoni (método Kato-Katz). Critérios de exclusão: sorologia positiva para HIV, HTLV-1, VHB ou VHC. Foi utilizado protocolo ultrassonográfico de Niamey, proposto pela OMS. RESULTADOS: Avaliando-se isoladamente as medidas dos espaços periportais, estas se mostraram sem alterações em 21% dos indivíduos com doença avançada da instituição terciária. Utilizando-se todos os parâmetros do protocolo, 100% dos indivíduos da instituição terciária, com forma grave da doença, apresentaram fibrose periportal avançada. Em pacientes hepatoesplênicos da área endêmica não se identificou fibrose à ultrassonografia. CONCLUSÃO: O protocolo ultrassonográfico proposto pela OMS detecta fibrose periportal avançada nos pacientes com forma grave da doença, com maior sensibilidade do que a medida do espaço periportal isoladamente. A complexidade de identificação das fases iniciais da fibrose periportal, em áreas endêmicas, pela ultrassonografia, pode suscitar o campo da complementação diagnóstica e a continuidade do aprimoramento dos protocolos ultrassonográficos nestas áreas.

Malformações do sistema nervoso central e malformações associadas diagnosticadas pela ultrassonografia obstétrica / Central nervous system malformations and associated defects diagnosed by obstetric ultrasonography

OBJETIVO: Identificar a prevalência de malformações congênitas do sistema nervoso central (SNC) e malformações associadas diagnosticadas pela ultrassonografia obstétrica. MATERIAIS E MÉTODOS: Estudo observacional, transversal, descritivo, em instituição de referência para gestações de alto risco. RESULTADOS: Malformações congênitas do SNC estiveram presentes sem outras malformações associadas em 65,78%, com a distribuição: hidrocefalia (37,5%), mielomeningocele (15%), encefalocele (12,5%), agenesia de corpo caloso (12,5%), anencefalia (12,5%), holoprosencefalia (7,5%), Dandy-Walker (7,5%), Arnold-Chiari (5,0%), hidranencefalia (5,0%), meningocele (5,0%), cisto aracnoideo (2,5%). Malformações congênitas de outros sistemas estiveram associadas às do SNC: craniofacial (73,9%), ortopédica (65,2%), cardiovascular (34,8%), geniturinária (30,4%), gastrintestinal (30,4%), respiratória (8,7%), sindrômica (8,7), oftalmológica (4,3%). A sensibilidade ultrassonográfica no estudo de malformações fetais do SNC foi 79,4%. A taxa de falso-negativos foi 20,5%. Dentre as limitações quantificáveis destaca-se o oligodrâmnio, presente em 25% dos falso-negativos. CONCLUSÃO: A ultrassonografia obstétrica possui boa sensibilidade no rastreio de malformações fetais do SNC, em especial com o aperfeiçoamento constante e domínio na utilização de métodos especializados, como o Doppler e a ultrassonografia volumétrica (3D/4D), contribuindo para firmar-se como modalidade de escolha nesta rotina. Complementar ao método, a ressonância magnética pode vir a fornecer subsídios para uma ainda melhor assistência perinatal.

OBJECTIVE: To identify and evaluate the prevalence of congenital central nervous system (CNS) malformations and associated defects diagnosed by obstetric ultrasonography. MATERIALS AND METHODS: Observational, descriptive, cross-sectional study developed in an institution of reference for high-risk pregnancies. RESULTS: Congenital CNS malformations without other associated defects were present in 65.78% of cases, as follows: hydrocephalus (37.5%), myelomeningocele (15%), encephalocele (12.5%), corpus callosum agenesis (12.5%), anencephaly (12.5%), holoprosencephaly (7.5%), Dandy-Walker (7.5%), Arnold-Chiari (5.0%), hydranencephaly (5.0%), meningocele (5.0%), arachnoid cyst (2.5%). Congenital malformations of other systems were associated with such malformations, as follows: craniofacial (73.9%), orthopedic (65.2%), cardiovascular (34.8%), genitourinary (30.4%), gastrointestinal (30.4%), respiratory (8.7%), syndromic (8.7%), ophthalmologic (4.3%). The sonographic sensitivity in the study of CNS malformations was 79.4%. The rate of false-negative results was 20.5%. Oligohydramnios, present in 25% of false-negative studies, stands out among the quantifiable limitations. CONCLUSION: Obstetric ultrasonography presents good sensitivity in the screening for fetal CNS malformations, specially with the constant improvement and control of specialized methods such as Doppler and volumetric ultrasonography (3D/4D), contributing to consolidate its role as a modality of choice in this routine. Magnetic resonance imaging may play a supplementary role, providing information for an even better perinatal care.