RESUMO
Anorectal and cloacal malformations are a broad mix of congenital abnormalities related to the distal rectum and anus. Confusion exists between all the forms in this large and heterogeneous group. The spectrum includes everything from anal stenosis, ventral anus, anal atresia (with and without fistula) and the full spectrum of cloacal malformations. Imaging in these conditions is done through the whole armamentarium of radiologic modalities, with very different imaging strategies seen across the centres where these conditions are managed. In 2017, the European Society of Paediatric Radiology (ESPR) abdominal imaging task force issued recommendations on the imaging algorithm and standards for imaging anorectal malformations. This was followed by further letters and clarifications together with an active multispecialty session on the different imaging modalities for anorectal malformations at the 2018 ESPR meeting in Berlin. Through this paper, the abdominal task force updates its guidelines and recommended imaging algorithm for anorectal malformations.
Assuntos
Malformações Anorretais , Anus Imperfurado , Radiologia , Canal Anal/anormalidades , Canal Anal/diagnóstico por imagem , Malformações Anorretais/diagnóstico por imagem , Anus Imperfurado/diagnóstico por imagem , Criança , Humanos , Reto/anormalidades , Reto/diagnóstico por imagemRESUMO
We aim to present a practical approach to imaging in suspected biliary atresia, an inflammatory cholangiopathy of infancy resulting in progressive fibrosis and obliteration of extrahepatic and intrahepatic bile ducts. Left untreated or with failure of the Kasai procedure, biliary atresia progresses to biliary cirrhosis, end-stage liver failure and death within the first years of life. Differentiating biliary atresia from other nonsurgical causes of neonatal cholestasis is difficult as there is no single method for diagnosing biliary atresia and clinical, laboratory and imaging features of this disease overlap with those of other causes of neonatal cholestasis. In this second part, we discuss the roles of magnetic resonance (MR) cholecystopancreatography, hepatobiliary scintigraphy, percutaneous biopsy and percutaneous cholecysto-cholangiography. Among imaging techniques, ultrasound (US) signs have a high specificity, although a normal US examination does not rule out biliary atresia. Other imaging techniques with direct opacification of the biliary tree combined with percutaneous liver biopsy have roles in equivocal cases. MR cholecystopancreatography and hepatobiliary scintigraphy are not useful for the diagnosis of biliary atresia. We propose a decisional flowchart for biliary atresia diagnosis based on US signs, including elastography, percutaneous cholecysto-cholangiography or endoscopic retrograde cholangiopancreatography and liver biopsy.
Assuntos
Atresia Biliar , Colestase , Atresia Biliar/diagnóstico por imagem , Biópsia , Colangiografia , Colangiopancreatografia Retrógrada Endoscópica , Humanos , Lactente , Fígado/diagnóstico por imagem , Espectroscopia de Ressonância Magnética , Cintilografia , Fatores de Risco , Design de SoftwareRESUMO
Since Francis Fontan first introduced the eponymous technique, the Fontan procedure, this type of surgical palliation has allowed thousands of children affected by specific heart malformations to reach adulthood. Nevertheless, abdominal, thoracic, lymphatic and neurologic complications are the price that is paid by these patients. Our review focuses on Fontan-associated liver disease; the purpose is to summarize the current understanding of its physiopathology, the aim of follow-up and the specific radiologic follow-up performed in Europe. Finally, we as members of the Abdominal Task Force of the European Society of Paediatric Radiology propose a consensus-based imaging follow-up algorithm.
Assuntos
Técnica de Fontan , Cardiopatias Congênitas , Hepatopatias , Radiologia , Adulto , Criança , Técnica de Fontan/efeitos adversos , Cardiopatias Congênitas/diagnóstico por imagem , Cardiopatias Congênitas/cirurgia , Humanos , Fígado/patologia , Cirrose Hepática/patologia , Hepatopatias/patologia , Complicações Pós-Operatórias/patologiaRESUMO
Fontan surgery is a life-saving procedure for newborns with complex cardiac malformations, but it originates complications in different organs. The liver is also affected, with development of fibrosis and sometimes cirrhosis and hepatocellular carcinoma. There is no general agreement on how to follow-up these children for the development of liver disease. To understand the current practice on liver follow-up, we invited members of the European Society of Paediatric Radiology (ESPR) to fill out an online questionnaire. The survey comprised seven questions about when and how liver follow-up is performed on Fontan patients. While we found some agreement on the use of US as screening tool, and of MRI for nodule characterization, the discrepancies on timing and the lack of a shared protocol make it currently impossible to compare data among centers.
Assuntos
Carcinoma Hepatocelular , Técnica de Fontan , Cardiopatias Congênitas , Neoplasias Hepáticas , Radiologia , Criança , Consenso , Seguimentos , Cardiopatias Congênitas/diagnóstico por imagem , Cardiopatias Congênitas/cirurgia , Humanos , Recém-Nascido , Cirrose Hepática , Neoplasias Hepáticas/diagnóstico por imagem , Inquéritos e QuestionáriosRESUMO
We present a practical approach to imaging in suspected biliary atresia, an inflammatory cholangiopathy of infancy resulting in progressive fibrosis and obliteration of extrahepatic and intrahepatic bile ducts. Left untreated or with failure of the Kasai procedure, biliary atresia progresses towards biliary cirrhosis, end-stage liver failure and death by age 3. Differentiation of biliary atresia from other nonsurgical causes of neonatal cholestasis is challenging because there is no single method for diagnosing biliary atresia, and clinical, laboratory and imaging features of this disease overlap with those of other causes of neonatal cholestasis. Concerning imaging, our systematic literature review shows that ultrasonography is the main tool for pre- and neonatal diagnosis. Key prenatal features, when present, are non-visualisation of the gallbladder, cyst in the liver hilum, heterotaxy syndrome and irregular gallbladder walls. Postnatal imaging features have a very high specificity when present, but a variable sensitivity. Triangular cord sign and abnormal gallbladder have the highest sensitivity and specificity. The presence of macro- or microcyst or polysplenia syndrome is highly specific but less sensitive. The diameter of the hepatic artery and hepatic subcapsular flow are less reliable. When present in the context of acholic stools, dilated intrahepatic bile ducts rule out biliary atresia. Importantly, a normal US exam does not rule out biliary atresia. Signs of chronic hepatopathy and portal hypertension (portosystemic derivations such as patent ductus venosus, recanalised umbilical vein, splenomegaly and ascites) should be actively identified for - but are not specific for - biliary atresia.
Assuntos
Atresia Biliar , Colestase , Hipertensão Portal , Atresia Biliar/diagnóstico por imagem , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética , Gravidez , Ultrassonografia , Ultrassonografia Pré-NatalRESUMO
Contrast-enhanced ultrasound (CEUS) and diffusion-weighted imaging (DWI) are safe, repeatable imaging techniques. The aim of this paper is to discuss the advantages, technical factors and possible clinical applications of these imaging tools in focal renal lesions in children.
Assuntos
Meios de Contraste , Imagem de Difusão por Ressonância Magnética/métodos , Aumento da Imagem/métodos , Neoplasias Hepáticas/diagnóstico por imagem , Ultrassonografia/métodos , Europa (Continente) , Humanos , Fígado/diagnóstico por imagem , Radiologia , Sociedades MédicasRESUMO
Contrast-enhanced ultrasonography (US) has become an important supplementary tool in many clinical applications in children. Contrast-enhanced voiding urosonography and intravenous US contrast agents have proved useful in routine clinical practice. Other applications of intracavitary contrast-enhanced US, particularly in children, have not been widely investigated but could serve as a practical and radiation-free problem-solver in several clinical settings. Intracavitary contrast-enhanced US is a real-time imaging modality similar to fluoroscopy with iodinated contrast agent. The US contrast agent solution is administered into physiological or non-physiological body cavities. There is no definitive list of established indications for intracavitary US contrast agent application. However, intracavitary contrast-enhanced US can be used for many clinical applications. It offers excellent real-time spatial resolution and allows for a more accurate delineation of the cavity anatomy, including the internal architecture of complex collections and possible communications within the cavity or with the surrounding structures through fistulous tracts. It can provide valuable information related to the insertion of catheters and tubes, and identify related complications such as confirming the position and patency of a catheter and identifying causes for drainage dysfunction or leakage. Patency of the ureter and biliary ducts can be evaluated, too. US contrast agent solution can be administered orally or a via nasogastric tube, or as an enema to evaluate the gastrointestinal tract. In this review we present potential clinical applications and procedural and dose recommendations regarding intracavitary contrast-enhanced ultrasonography.
Assuntos
Doenças Biliares/diagnóstico por imagem , Meios de Contraste , Doenças Urogenitais Femininas/diagnóstico por imagem , Gastroenteropatias/diagnóstico por imagem , Aumento da Imagem/métodos , Doenças Urogenitais Masculinas/diagnóstico por imagem , Ultrassonografia/métodos , Cavidade Abdominal/diagnóstico por imagem , Adolescente , Criança , Pré-Escolar , Europa (Continente) , Feminino , Humanos , Lactente , Masculino , Pediatria , Sociedades MédicasRESUMO
Very early onset inflammatory bowel disease (VEO-IBD) is defined as disease presenting before the age of 6. These children require a tailored imaging approach because conventional imaging studies can be difficult to perform at such a young age. Unlike inflammatory bowel disease in older children and adults, colonic disease predominates in VEO-IBD, and small-bowel disease is rare. Distinguishing Crohn disease from ulcerative colitis is challenging both clinically and on histology. Radiology offers the greatest utility for detecting small-bowel disease because it helps to distinguish the two main disease entities and guide clinical management. Small-bowel ultrasound is recommended as the first-line investigation because it requires relatively little preparation, is readily available and is generally well tolerated in young children. We present these recommendations, based on the current evidence for radiologic management in this group, and propose an imaging algorithm for investigating VEO-IBD.
Assuntos
Doenças Inflamatórias Intestinais/diagnóstico por imagem , Algoritmos , Criança , Diagnóstico Diferencial , Europa (Continente) , Feminino , Humanos , MasculinoRESUMO
The above article was published online with incorrect author name. The right spelling should be Damjana Kljucevsek instead of Damjana Kjucevsek. The correct name is presented here.
RESUMO
Lung diseases represent one of the most life threatening conditions in the newborn. Important progresses in modern perinatal care has resulted in a significantly improved survival and decreased morbidity, in both term and preterm infants. Most of these improvements are directly related to the better management of neonatal lung conditions, and infants of very low gestational ages are now surviving. This article reviews the common spectrum of diseases of the neonatal lung, including medical and surgical conditions, with emphasis to the radiological contribution in the evaluation and management of these infants. Imaging evaluation of the neonatal chest, including the assessment of catheters, lines and tubes are presented.
Assuntos
Pneumopatias/complicações , Pneumopatias/diagnóstico por imagem , Síndrome do Desconforto Respiratório do Recém-Nascido/etiologia , Cateterismo Venoso Central/instrumentação , Cateterismo Periférico/instrumentação , Tubos Torácicos , Desenho de Equipamento , Humanos , Recém-Nascido , Pneumopatias/cirurgia , Imageamento por Ressonância Magnética , Radiografia Torácica/instrumentação , Síndrome do Desconforto Respiratório do Recém-Nascido/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Ultrassonografia de IntervençãoRESUMO
Subcutaneous fat necrosis of the newborn is an uncommon, transient and self-healing panniculits. This entity generally follows an uncomplicated course, however there are rare and important complications. The authors present a case of a newborn with subcutaneous fat necrosis complicated by hypercalcemia and nephrocalcinosis. The pathogenesis of hypercalcemia is not fully understood and the nephrocalcinosis can evolve to chronic kidney disease. Clinicians should be aware of subcutaneous fat necrosis as a possible risk factor for hypercalcemia and patients should have serial serum and urinary calcium determinations for up to 6 months after the appearance of the skin lesions. The early diagnosis and prompt treatment of hypercalcemia are essential to prevent severe complications.
A necrose gorda do tecido celular subcutâneo do recém-nascido é uma paniculite rara, transitória e auto-limitada. Tipicamente apresenta evolução favorável, contudo podem surgir complicações potencialmente graves. Apresenta-se um caso que evoluiu com hipercalcémia e nefrocalcinose. A etiopatogenia da hipercalcémia é ainda pouco compreendida e a nefrocalcinose pode constituir uma causa de doença renal crónica. A monitorização regular dos valores de cálcio sérico e urinário neste contexto é essencial, no mínimo até 6 meses após a resolução das lesões cutâneas, porque o diagnóstico precoce e a terapêutica adequada constituem a única possibilidade de prevenir complicações mais graves.
Assuntos
Necrose Gordurosa/complicações , Hipercalcemia/etiologia , Nefrocalcinose/etiologia , Gordura Subcutânea , Feminino , Humanos , Recém-NascidoRESUMO
Respiratory complications of rickets may be life-threatening particularly in developing countries. A 7-month-old boy presented with recurrent infections, seizures, failure to thrive, wheezing and respiratory distress progressing to global respiratory failure. Several antimicrobial regimens, bronchodilators and corticosteroids resulted in only short-term improvement. He was transferred from Cape Verde to a third-care hospital in Portugal. He was hypotonic and undernourished, with respiratory anguish and classical skeletal signs of rickets, despite vitamin D supplementation. Hypocalcaemia, normal phosphate levels and normal vitamin D status 25(OH)D3 and 1.25(OH)2D3) pointed to vitamin D-dependent rickets type II. Treatment with high doses of calcium and calcitriol allowed progressive respiratory, musculoskeletal and neurological recovery. Although respiratory manifestations of rickets were described many years ago, the present case raises relevant issues about the level of diagnostic support, the risk of complications and how they should be assessed and monitored.
Assuntos
Calcitriol/uso terapêutico , Cálcio/uso terapêutico , Raquitismo Hipofosfatêmico Familiar/diagnóstico , Raquitismo Hipofosfatêmico Familiar/tratamento farmacológico , Deficiência de Vitamina D/tratamento farmacológico , Calcifediol/sangue , Calcitriol/administração & dosagem , Cálcio/administração & dosagem , Diagnóstico Tardio , Humanos , Lactente , Masculino , Portugal , Radiografia Torácica , Tomografia Computadorizada por Raios XRESUMO
Hepatocyte nuclear factor 1 beta (HNF1B) plays an important role in embryonic development, namely in the kidney, pancreas, liver, genital tract, and gut. Heterozygous germline mutations of HNF1B are associated with the renal cysts and diabetes syndrome (RCAD). Affected individuals may present a variety of renal developmental abnormalities and/or maturity-onset diabetes of the young (MODY). A Portuguese 19-month-old male infant was evaluated due to hypoplastic glomerulocystic kidney disease and renal dysfunction diagnosed in the neonatal period that progressed to stage 5 chronic renal disease during the first year of life. His mother was diagnosed with a solitary hypoplastic microcystic left kidney at age 20, with stage 2 chronic renal disease established at age 35, and presented bicornuate uterus, pancreatic atrophy, and gestational diabetes. DNA sequence analysis of HNF1B revealed a novel germline frameshift insertion (c.110_111insC or c.110dupC) in both the child and the mother. A review of the literature revealed a total of 106 different HNF1B mutations, in 236 mutation-positive families, comprising gross deletions (34%), missense mutations (31%), frameshift deletions or insertions (15%), nonsense mutations (11%), and splice-site mutations (8%). The study of this family with an unusual presentation of hypoplastic glomerulocystic kidney disease with neonatal renal dysfunction identified a previously unreported mutation of the HNF1B gene, thereby expanding the spectrum of known mutations associated with renal developmental disorders.
Assuntos
Doenças do Sistema Nervoso Central/genética , Esmalte Dentário/anormalidades , Diabetes Mellitus Tipo 2/genética , Fator 1-beta Nuclear de Hepatócito/genética , Doenças Renais Císticas/genética , Insuficiência Renal/genética , Doenças do Sistema Nervoso Central/fisiopatologia , Esmalte Dentário/fisiopatologia , Diabetes Mellitus Tipo 2/fisiopatologia , Progressão da Doença , Feminino , Mutação em Linhagem Germinativa , Humanos , Lactente , Recém-Nascido , Doenças Renais Císticas/fisiopatologia , Masculino , Gravidez , Complicações na Gravidez/fisiopatologia , Insuficiência Renal/fisiopatologia , Análise de Sequência de DNARESUMO
Computed tomography (CT) is a powerful and irreplaceable imaging technique in the evaluation of thoracic disease in infants and children. Recent advances in CT technology, with multi-detector equipment now widely available in most institutions, allowing a highly detailed evaluation of the chest in a short time period has resulted in expanding indications of chest CT in paediatric patients. Its improved diagnostic yield along with a widespread availability has also resulted in an increased number of CT examinations in children, not always with beneficial impact on patient management and outcome. Accordingly with the ALARA concept, a judicious and correct use of CT is strongly advisable in order to reduce unnecessary high dose radiation exposure. The objective of this paper is to review the use of chest CT in paediatric patients focused mainly on basic technical aspects and clinical applications in the evaluation of the lungs, mediastinum and chest wall.
Assuntos
Lesões por Radiação/prevenção & controle , Proteção Radiológica/métodos , Radiografia Torácica/métodos , Doenças Torácicas/diagnóstico por imagem , Tomografia Computadorizada por Raios X/efeitos adversos , Tomografia Computadorizada por Raios X/métodos , Criança , Pré-Escolar , Humanos , Lactente , Recém-Nascido , Doses de Radiação , Lesões por Radiação/etiologia , Radiografia Torácica/efeitos adversosRESUMO
Infantile hepatic hemangioma is the third most frequent liver tumor in children and the most common below 6 months of age. Therapeutic options depend on clinical manifestations and should be tailored on an individual patient basis. We present the case of a 4 year old boy with neonatal diagnosis of large vascularized liver tumor with imagiological criteria of infantile hepatic hemangioma. We highlight the occurrence of heart failure and Kasabach-Merrit syndrome (thrombocytopenia, anemia) that have spontaneously regressed. During follow up, sequential imaging (ultrasound with Doppler, magnetic resonance imaging, dynamic contrast enhancement computed tomography) confirmed the hypothesis of IHH, allowing vascular mapping of the lesion. From the first year on, we observed a favorable course with progressive tumor regression. In the present case, a conservative approach has been maintained, but the best therapeutic option remains unclear. We highlight the specific features of this case, discussing the most cost-effective approach.
Os hemangiomas hepáticos infantis constituem o terceiro tumor hepático mais frequente na criança e o mais frequente antes dos seis meses. As opções terapêuticas são determinadas pela apresentação clínica, devendo ser individualizadas. Apresenta-se o caso de uma criança actualmente com quatro anos de idade, com diagnóstico neonatal de volumosa malformação hepática vascularizada, com critérios imagiológicos compatíveis com hemangioma hepático infantil. Destaca-se a ocorrência inicial de Síndrome de Kasabach-Merrit (trombocitopenia, anemia) e insuficiência cardíaca que resolveram espontaneamente. Ao longo do período de seguimento, o estudo imagiológico evolutivo (ecografia, doppler ressonância magnética e tomografia computorizada com administração de contraste endovenoso) confirmou a hipótese de HHI ao permitir o mapeamento vascular detalhado. A partir do primeiro ano de vida, constatou-se evolução favorável com redução progressiva da massa. Embora se tenha mantido atitude conservadora, a melhor abordagem e intervenção nesta entidade, permanece controversa. Salientam-se as particularidades deste caso, discutindo a abordagem com melhor relação custo-benefício.
Assuntos
Hemangioma/terapia , Neoplasias Hepáticas/terapia , Pré-Escolar , Hemangioma/patologia , Humanos , Neoplasias Hepáticas/patologia , MasculinoRESUMO
The nutcracker syndrome is associated with left renal vein compression in its passage between the abdominal aorta and superior mesenteric artery. This phenomenon can cause left renal vein hypertension manifested by abdominal pain, hematuria, and pelvic congestion syndrome. The diagnosis is essentially clinical, supported by imaging and necessarily one of exclusion. The literature suggests that it occurs with a reasonable prevalence in children who present with isolated hematuria but is commonly misdiagnosed. We describe two clinical cases of children with hematuria whose investigation led to the diagnosis of Nutcracker Syndrome. In the presence of hematuria of unknown origin it's necessary to consider this entity, highlighting the essential role of a noninvasive test such as renal ultrasound with Doppler in its diagnosis.
Assuntos
Hematúria/etiologia , Síndrome do Quebra-Nozes/complicações , Criança , Pré-Escolar , Humanos , Masculino , Síndrome do Quebra-Nozes/diagnóstico por imagem , UltrassonografiaRESUMO
Diarrheic fecal samples from 258 pre-weaned calves (1-30 day-old) from 9 dairy farms located in Banat region, Romania, were microscopically examined for the presence of Cryptosporidium oocysts. Overall, 65 (25%) samples were found positive. A higher percent of infection was recorded in calves aged between 8 and 14 days compared with other age categories (1-7, 8-14, 15-21 and 22-30 days; p<0.05). Genetic characterization was carried out on all Cryptosporidium-positive samples. After DNA extraction, Cryptosporidium species were determined by a nested PCR of the small subunit rRNA gene (18S) followed by RFLP analysis with SspI, VspI and MboII restriction enzymes. The restriction patterns showed that animals were infected with Cryptosporidium parvum. Subsequently, subtyping of 13 C. parvum isolates, based on sequence analysis of the 60 kDa glycoprotein (GP60) gene, showed 2 subtypes (IIaA15G2R1 and IIaA16G1R1) belonging to the subtype family IIa. This is the first molecular study of bovine Cryptosporidium infection in Romania.
Assuntos
Criptosporidiose/veterinária , Cryptosporidium/genética , Animais , Bovinos , Criptosporidiose/epidemiologia , Criptosporidiose/parasitologia , Cryptosporidium/classificação , Indústria de Laticínios , Diarreia/parasitologia , Diarreia/veterinária , Fezes/parasitologia , Humanos , Reação em Cadeia da Polimerase/métodos , Reação em Cadeia da Polimerase/veterinária , Polimorfismo de Fragmento de Restrição , Romênia/epidemiologia , ZoonosesRESUMO
PURPOSE: Few reports have compared chronic obstructive lung diseases (OLDs) starting in childhood. AIMS: To describe functional, radiological, and biological features of obliterative bronchiolitis (OB) and further discriminate to problematic severe asthma (PSA) or to diagnose a group with overlapping features. RESULTS: Patients with OB showed a greater degree of obstructive lung defect and higher hyperinflation (P < 0.001). The most frequent high-resolution computed tomography (HRCT) features (increased lung volume, inspiratory decreased attenuation, mosaic pattern, and expiratory air trapping) showed significantly greater scores in OB patients. Patients with PSA have shown a higher frequency of atopy (P < 0.05). ROC curve analysis demonstrated discriminative power for the LF variables, HRCT findings and for atopy between diagnoses. Further analysis released five final variables more accurate for the identification of a third diagnostic group (FVC%t, post-bronchodilator ΔFEV(1) in ml, HRCT mosaic pattern, SPT, and D. pteronyssinus-specific IgE). CONCLUSIONS: We found that OB and PSA possess identifiable characteristic features but overlapping values may turn them undistinguishable.