Phenotip - a web-based instrument to help diagnosing fetal syndromes antenatally.

Prenatal ultrasound can often reliably distinguish fetal anatomic anomalies, particularly in the hands of an experienced ultrasonographer. Given the large number of existing syndromes and the significant overlap in prenatal findings, antenatal differentiation for syndrome diagnosis is difficult. We constructed a hierarchic tree of 1140 sonographic markers and submarkers, organized per organ system. Subsequently, a database of prenatally diagnosable syndromes was built. An internet-based search engine was then designed to search the syndrome database based on a single or multiple sonographic markers. Future developments will include a database with magnetic resonance imaging findings as well as further refinements in the search engine to allow prioritization based on incidence of syndromes and markers.

The atypical faces of neuroblastoma : pictorial essay : P49

Purpose: Neuroblastoma represents 8 to 10% of all pediatric tumors and account for 15% of cancer deaths in children. Neuroblastoma may arise anywhere sympathetic tissue is present and its clinical presentation may be very variable. Therefore, a significant number of unusual tumor presentation and imaging findings are possible.The purpose of this pictorial essay is to review the unusual imaging findings of neuroblastoma. Methods and materials: We retrospectively revised the 25 cases f neuroblastoma detected and treated at our institution in the last 3 years and selected those cases with atypical imaging findings at the initial diagnosis and the follow-up studies. Results: A significant number of our studies showed atypical imaging findings concerning the site of origin, the initial characteristics and extension of the primary tumor or the site of metastasis. Conclusion: The variability of origin and the changing clinical evolution of neuroblastoma may originate a wide spectrum of unusual imaging findings, which should be recognized to allow a correct diagnosis.

Giant oesophageal liposarcoma: case report

We describe imaging findings of a oesophageal liposarcoma in a 66 year old man. The computed tomography scan was performed after a chest radiograph showed a large posterior mediastinal mass. Oesophageal liposarcomas are rare tumours. They can achieve large size before they become symptomatic. Our patient was successfully managed with complete surgical removal.

Redundant nerve roots of the cauda equina: review of the literature

In imaging diagnosis, redundant nerve roots of the cauda equina are characterized by the presence of elongated, enlarged and tortuous nerve roots in close relationship with a high-grade lumbar spinal canal stenosis. This is not an independent entity, but it is believed to be a consequence of the chronic compression at the level of the lumbar canal stenosis and thus may be part of the natural history of lumbar spinal stenosis. The present paper is aimed at reviewing the histopathological, electrophysiological and imaging findings, particularly at magnetic resonance imaging, as well as the clinical meaning of this entity. As the current assessment of canal stenosis and root compression is preferably performed by means of magnetic resonance imaging, this is the imaging method by which the condition is identified. The recognition of redundant nerve roots at magnetic resonance imaging is important, particularly to avoid misdiagnosing other conditions such as intradural arteriovenous malformations. The literature approaching the clinical relevance of the presence of redundant nerve roots is controversial. There are articles suggesting that the pathological changes of the nerve roots are irreversible at the moment of diagnosis and therefore neurological symptoms are less likely to improve with surgical decompression, but such concept is not a consensus.

Cochlear implant: what the radiologist should know

Cochlear implant is the method of choice in the treatment of deep sensorineural hypoacusis, particularly in patients where conventional amplification devices do not imply noticeable clinical improvement. Imaging findings are crucial in the indication or contraindication for such surgical procedure. In the assessment of the temporal bone, radiologists should be familiar with relative or absolute contraindication factors, as well as with factors that might significantly complicate the implantation. Some criteria such as cochlear nerve aplasia, labyrinthine and/or cochlear aplasia are still considered as absolute contraindications, in spite of studies bringing such criteria into question. Cochlear dysplasias constitute relative contraindications, among them labyrinthitis ossificans is highlighted. Other alterations may be mentioned as complicating agents in the temporal bone assessment, namely, hypoplasia of the mastoid process, aberrant facial nerve, otomastoiditis, otosclerosis, dehiscent jugular bulb, enlarged endolymphatic duct and sac. The experienced radiologist assumes an important role in the evaluation of this condition.

Mucinous carcinoma of the breast: iconographic essay with histopathological correlation

The present essay is aimed at describing the most characteristic imaging findings of mucinous carcinoma of the breast, with emphasis on the patterns related to better prognosis. The authors selected cases of mucinous carcinoma of the breast whose images were available, highlighting the imaging findings suggestive of this subtype of breast cancer, either at mammography, ultrasonography or magnetic resonance imaging.

Typical and atypical presentations of paranasal sinus mucocele at computed tomography

Mucoceles are cystic masses that generally affect the sinuses. It occurs as a result from obstruction of the ostium of a sinus and consequential accumulation of mucus. Frontal and ethmoid sinuses are mostly affected. Usually, the clinical symptoms are insidious, varying with the extent of the affected region. The treatment is surgical and endoscopic surgery is the method of choice in most cases. The present study is aimed at describing the main characteristics of paranasal sinuses mucoceles, demonstrating and illustrating a series of atypical presentations with emphasis on imaging findings.

Toxic and metabolic encephalopathies: iconographic essay

Generally, toxic-metabolic diseases affecting the central nervous system can hardly be differentiated just on the basis of their clinical presentation. However, some typical neuroradiological features can guide the correct diagnosis. In this context, magnetic resonance imaging is an important tool which, in association with clinical and laboratory data, can establish an early and specific treatment. The present pictorial essay with selected cases from the archives of the authors' institution describes imaging findings which might help in the etiologic diagnosis of toxic-metabolic diseases.

Immunoglobulin G4-related disease: autoimmune pancreatitis and extrapancreatic manifestations

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.

Torção do grande omento

We present two cases of greater omental torsion, a rare condition of acute abdominal pain, emphasizing the clinical manifestations and imaging findings, which can lead us to the difficult preoperative diagnosis of this entity.

Lobular Carcinoma in Situ with Atypical Mass Presentation: a Case Report

Lobular carcinoma in situ (LCIS) is associated with an increased risk of breast cancer and accounts for 1 to 2% of all breast cancers. LCIS diagnosis currently remains one of the major identifiable risk factors for subsequent breast cancer development. Imaging methods are becoming increasingly sensitive, and the consequent detection of small lesions and subtle abnormalities increases the chance of detection of in situ and invasive carcinomas, leading to a reduction in mortality. This report describes a case of a palpable complaint with abnormal imaging findings, including a solid LCIS mass.

Adrenocortical tumors in children

Childhood adrenocortical tumors (ACT) are rare. In the USA, only about 25 new cases occur each year. In Southern Brazil, however, approximately 10 times that many cases are diagnosed each year. Most cases occur in the contiguous states of São Paulo and Paraná. The cause of this higher rate has not been identified. Familial genetic predisposition to cancer (p53 mutations) and selected genetic syndromes (Beckwith-Wiedemann syndrome) have been associated with childhood ACT in general but not with the Brazilian counterpart. Most of the affected children are young girls with classic endocrine syndromes (virilizing and/or Cushing). Levels of urinary 17-ketosteroids and plasma dehydroepiandrosterone sulfate (DHEA-S), which are abnormal in approximately 90% of the cases, provide the pivotal clue to a diagnosis of ACT. Typical imaging findings of pediatric ACT consist of a large, well-defined suprarenal tumor containing calcifications with a thin capsule and central necrosis or hemorrhage. The pathologic classification of pediatric ACT is troublesome. Even an experienced pathologist can find it difficult to differentiate carcinoma from adenoma. Surgery is the single most important procedure in the successful treatment of ACT. The role of chemotherapy in the management of childhood ACT has not been established although occasional tumors are responsive to mitotane or cisplatin-containing regimens. Because of the heterogeneity and rarity of the disease, prognostic factors have been difficult to establish in pediatric ACT. Patients with incomplete tumor resection or with metastatic disease at diagnosis have a dismal prognosis. In patients with localized and completely resected tumors, the size of the tumor has predictive value. Patients with large tumors have a much higher relapse rate than those with small tumors.

Association of NOS3 gene variants and clinical contributors of hypoxic-ischemic encephalopathy

The aim of this study was to analyze the association of different clinical contributors of hypoxic-ischemic encephalopathy with NOS3 gene polymorphisms. A total of 110 children with hypoxic-ischemic encephalopathy and 128 control children were selected for this study. Association of gender, gestational age, birth weight, Apgar score, cranial ultrasonography, and magnetic resonance imaging findings with genotypic data of six haplotype-tagging single nucleotide polymorphisms and the most commonly investigated rs1800779 and rs2070744 polymorphisms was analyzed. The TGT haplotype of rs1800783, rs1800779, and rs2070744 polymorphisms was associated with hypoxic-ischemic encephalopathy. Children with the TGT haplotype were infants below 32 weeks of gestation and they had the most severe brain damage. Increased incidence of the TT genotype of the NOS3 rs1808593 SNP was found in the group of hypoxic-ischemic encephalopathy patients with medium and severe brain damage. The probability of brain damage was twice as high in children with the TT genotype than in children with the TG genotype of the same polymorphism. Furthermore, the T allele of the same polymorphism was twice as frequent in children with lower Apgar scores. This study strongly suggests associations of NOS3 gene polymorphism with intensity of brain damage and severity of the clinical picture in affected children.

Síndrome de pinzamiento femoroacetabular: manifestaciones clínicas y hallazgos por artroresonancia

El síndrome de pinzamiento femoroacetabular es una entidad reciente secundaria al “desacoplamiento” de la articulación coxofemoral, por alteración en la morfología de la cabeza femoral o del acetábulo, lo cual puede ocasionar osteoartrosis a temprana edad. El propósito del estudio es describir los signos clínicos más frecuentes y los hallazgos imagenológicos del síndrome de pinzamiento femoroacetabular. Metodologia: se realizó un estudio retrospectivo descriptivo de la frecuencia de las manifestaciones clínicas del síndrome de pinzamiento femoroacetabular y hallazgos en artroresonancia magnética entre los meses de Enero de 2008 a junio de 2009. Se seleccionaron treinta y dos pacientes en la institución, y se evaluaron sus manifestaciones clínicas, examen físico e imágenes de artroresonancia magnética. Resultados: todos los pacientes presentaron dolor inguinal en el momento de la consulta, con presencia de test de pinzamiento positivo para todos, y el signo de la C en el 90%. El subtipo más frecuente fue PINCER 46.6 % seguido por el pinzamiento MIXTO 39.3%. El signo de crossover estuvo presente en el 100% de los pacientes con retroversión acetabular (12). El resultado de incapacidad funcional fue WOMAC 48.44 ±14.79 (IC 95% 43.1-53.77), nunca fue mayor a 50 y el dolor tuvo un promedio de 11 / 20. Discusión: la artroresonancia magnética es el examen de elección, cuyos hallazgos permiten comprender las manifestaciones clínicas. El ángulo alfa y la versión femoral constituyeron los signos más significativos, estos hallazgos son equiparables a los obtenidos en estudios donde la mayor parte de la población son mujeres de edad media.

Concordancia interobservador entre ortopedistas de urgencias y cirujanos de codo en fracturas de cúpula radial

El trauma de codo y la fractura de cúpula radial resultan ser un motivo de consulta frecuente en nuestro medio. Es común en nuestro medio que a pesar de tener radiografías de codo en las que se evidencia fractura de cúpula radial se solicite un TAC de codo. Consideramos que el TAC es una herramienta útil en algunos casos de fracturas de la cúpula radial, es decir, no se debe tomar de forma rutinaria el TAC de codo en los pacientes con fracturas de cúpula radial como es usual en nuestro medio. Existen pocos estudios que comparan la concordancia inter observador de las clasificaciones utilizadas para las fracturas de cúpula radial, pero, no existe en la literatura mundial un estudio que evalué las diferencias entre la clasificación de la fractura en base a radiografías y tomografía entre un grupo ortopedistas traumatólogos y sub-especialistas de miembro superior. La realización de este estudio permite elaborar guías de manejo de pacientes con fractura de cúpula radial en la que se racionalizara el uso del TAC de codo.