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We report a case of a singleton hydrops pregnancy with placental gross and microscopic features between partial hydatidiform mole (PHM) and placental mesenchymal dysplasia (PMD) in a diploid live fetus. Pregnancy was complicated by early onset of growth restriction and pre-eclampsia. A female newborn was born at 29 weeks with no congenital malformations. Histology of the placenta revealed mixed phenotype of PMD and PHM, and genetic test results were normal.

Fibular aplasia-tibial campomelia-oligosyndactyly also known as FATCO syndrome is a rare condition characterized by fibular aplasia, shortening and anterior bowing of the lower limb at the tibia with overlying soft tissue dimpling and oligosyndactyly. Its etiology is currently unknown, but there is a male predominance. There are less than 30 cases reported in the literature but only three with prenatal diagnosis. We report two cases of FATCO syndrome with prenatal lower limb malformation diagnosis. Identification of the ultrasound findings of this condition in the prenatal stages allows an adequate parental counselling regarding the clinical features, prognosis, and potential treatments.

We report a case of mild frontonasal dysplasia, a complex and rare malformation affecting the central portion of the face, especially the eyes, nose, and forehead, which was diagnosed at 20 weeks of gestation. The diagnosis was made by two- and four-dimensional ultrasound and confirmed at autopsy after pregnancy termination. A review of the literature is presented.

Encephalocele is a rare congenital form of neural tube defect characterized by a protrusion of the meninges and cerebral tissue through a skull defect. These defects are classified according to their location: frontal, parietal and occipital, the last one being the most common form of presentation. The prognosis is related to the anatomical site, the volume of the neural contents and the presence of coexisting abnormalities. Most pregnancies are terminated, since the prognosis is poor. We report a case of an isolated fetal frontal encephalocele diagnosed at 21 weeks of gestation.

Triploidy is currently understood as a sporadic genetic disorder, with no recognisable risk of recurrence nor identifiable risk factors. In cases of triploidy, chances of thriving through the second trimester of fetal development are very slim, with most of these pregnancies ending as early miscarriage. We report a case of repeated triploid pregnancies in the same woman, from different fathers, achieving the second trimester of pregnancy; elective termination was decided in both cases, after an amniocentesis revealing a triploid karyotype. Both triploid pregnancies are described and compared; prenatal laboratorial markers, sonographic features, clinical course and pathological findings are analysed and matched with fetal autopsy and placental pathological study. Reported findings strongly point to recurrent triploidy of maternal origin, and so the possibility of a genetic predisposition should be considered. Investigation is required to assess the presence of an underlying genetic mechanism in this setting, thus enabling a better genetic/obstetric counselling.

Bardet-Biedl syndrome (BBS) is a rare ciliopathic human genetic disorder with mainly an autosomal recessive inheritance. BBS phenotype develops over the years and diagnosis is usually made in late childhood or early adulthood. Prenatal diagnosis is rare in the absence of family history or consanguinity. We present a prenatal case without a family history of inherited diseases or consanguinity. Mid-trimester ultrasound revealed hyperechogenic kidneys and postaxial polydactyly putting us on track of BBS. The fetopathology supported this diagnosis and the whole-exome sequencing confirmed the hypothesis. Our case illustrates how high-resolution obstetric scan, detailed observation of fetal features and application of gene sequencing technology contribute to elucidate the aetiology of rare, yet disabling and incurable disease, with the particular setting of negative family history.

Conjoined twins are a very rare complication of monochorionic monoamniotic pregnancies, associated with severe mortality and morbidity. Ultrasonography has made early diagnosis of conjoined twins possible, allowing prompt management and counselling of parents. The diagnosis should be suspected when monozygotic fetuses are shown to consistently hold the same fixed position relative to each other. The location and extent of fusion between the twins determine the potential for surgical separation and postnatal survival. The authors report a case of conjoined thoraco-omphalopagus twins, diagnosed by ultrasonography at 10 weeks of gestation. Due to high complexity of fetal fusion, termination of pregnancy was performed upon patient´s request.

A actinomicose é uma infecção bacteriana supurativa crônica caracterizada por múltiplos abcessos, trajetos fistulosos e fibrose envolvendo a face, o pescoço, o tórax e o abdômen. É causada por uma bactéria anaeróbia, Gram-positiva e saprófita (Actinomyces). A actinomicose pulmonar primária é uma doença rara que resulta provavelmente da aspiração de secreções da orofaringe. Pode apresentar-se como uma doença respiratória crônica. O tratamento de escolha é a antibioticoterapia com penicilina. Os autores apresentam o caso clínico de uma mulher de 55 anos com diagnóstico de actinomicose pulmonar tratada com sucesso com levofloxacina.

Exogenous lipoid pneumonia (ELP) is an infrequent pathology that results from the aspiration or inhalation of exogenous hydrocarbon. The acute form may be seen in cases of accidental aspiration of fatlike material traditionally described in fire-eaters.The authors present the case report of an acute ELP in a 19 year-old patient, fire-eater, admitted at the Emergency Room after inhalation of petroleum.By conclusion, some brief considerations on clinical-imagiological aspects of this situation are discussed.Rev Port Pneumol 2005; XI (6): 567-572

We present a case report of a pregnant woman with increased risk for trisomy 21 at first-trimester screening, assessed by ultrasonography, that was sent to our hospital. Amniocentesis was performed at 14 weeks and 2 days to obtain foetal karyotype that was normal (46,XX). At 19 weeks and 1 day, foetal hydrops associated with cardiac malformation was detected by routine scan. Foetal echocardiogram revealed a complete auriculoventricular septal defect, non-compacted myocardium, and a bradycardia of 70–90 beats per minute, which lead to the suspicion of left isomerism. Foetal death occurred at 20 weeks and 3 days. Autopsy was consistent with the prenatal diagnosis.

Eosinophilic Esophagitis has been increasingly diagnosed and results from a chronic esophagic inflammation with eosinophilic infiltrate.Evaluation of the diagnosed paediatric cases in our centre between 2004 and 2008 and revision of current literature on this subject.Four caucasian boys, aged eight to fifteen years old, were diagnosed with Eosinophilic Esophagitis. They presented with disphagia and food impaction and endoscopic findings included multiple concentric rings (pseudo-trachea pattern) and friable mucosa. All of them had mucosal eosinophil counts higher than 20 eosinophils/high-powered field and were given corticosteroids, either topic or systemic (one case) with therapeutic success.The diagnosis of Eosinophilic Esophagitis must be considered in presence of disphagia, food impaction or gastroesophageal reflux symptoms refractory to treatment. Endoscopic evaluation may be normal and the diagnosis is based on histological findings, making biopsy mandatory whenever clinically suspected. The increasing incidence of the last years associated with the high recurrence rate will lead to future prevalence increased both in child and adulthood.

The 980 exams concerning breast pathology performed in an 18-month period, including 626 fine needle aspiration biopsies, were reviewed. A diagnosis was made in 78.2% of fine needle aspiration biopsies, and in the remaining 21.8% they were considered insufficient for diagnosis. It was possible to establish a correlation with histological findings in 109 cases. There was accordance in 87.2% of the cases, a discrepancy in 6.4% of the cases neither with false positives nor false negatives, and in the remaining cases fine needle aspiration biopsy was considered insufficient for diagnosis despite the presence of a lesion in histological sections. The advantages and pitfalls of fine needle aspiration are discussed, and we consider this technique important in the initial approach to patients with breast disorders.

Fabry disease is an X-linked glycosphingolipidosis caused by deficiency of alpha-galactosidase. Progressive chronic kidney disease (CKD) is a major cause of morbidity and mortality in males. Although 40% of heterozygous females may develop renal involvement, pathologic data on Fabry nephropathy in heterozygotes are scarce. We reviewed the kidney biopsies of four affected females who had normal to slightly sub-normal renal function, two of them with overt proteinuria. Chronic non-specific degenerative lesions and glycosphingolipid accumulation per cell type were semi-quantitatively assessed by light and electron microscopy. Cellular distribution of glycosphingolipid deposits was best assessed on semithin sections. Podocyte effacement was seen only in proteinuric patients. Combined analysis of our data with those of two earlier series showed that glomerular sclerosis and tubulointerstitial fibrosis are predictors of proteinuria and CKD stage. There was no histopathological evidence supporting a major role of vascular damage in the early pathogenesis of Fabry nephropathy in females.

Pleomorphic carcinoma of the lung (PLC) is a rare malignant tumour presenting with a poor clinical outcome. It is included in the group of non-small cell lung carcinomas that contain sarcoma or sarcoma-like components (spindle cells/giant cells). Because of its rarity and diagnostic difficulties, the authors report a case of PLC in a 44 year-old patient, smoker, with the initial clinical presentation of a dorsal tumoural mass. As the time of diagnosis the tumour was in stage IV (TNM), the patient was treated only with supportive therapy and died five months later. During clinical evaluation, a Mounier-Kuhn Syndrome was confirmed. Clinical-imagiological aspects of this situation are reported as well as cytological and immunocytochemical features.

Actinomycosis is a chronic suppurative bacterial infection characterized by multiple abscesses, fistulous pathways, and fibrosis involving the face, neck, chest, and abdomen. It is caused by an anaerobic Gram-positive saprophytic bacterium (Actinomyces). Primary actinomycosis of the lung is a rare disease that probably results from aspiration of oropharyngeal secretions. It can present as a chronic respiratory disease. The treatment of choice is antibiotic therapy with penicillin. The authors report the case of a 55-year-old female diagnosed with pulmonary actinomycosis and successfully treated with levofloxacin.

Végran and colleagues proposed a model in which the lactate released from tumor cells through MCT4 would be taken up by endothelial cells via the MCT1 transporter and stimulate angiogenesis, using human umbilical vein endothelial cells (HUVECs) as model of tumor endothelial cells. By analyzing a total of 505 cases of human tumor samples immunostained for MCT1, we do not confirm plasma membrane expression of MCT1 in the endothelial cells of tumor-associated vessels. Cancer Res; 72(7); 1901–2. ©2012 AACR.

Chiari malformations comprises a group of brain diseases in which mainly the cerebellum is the structure affected. The prenatal diagnosis by ultrasound through identification of specific sonographic signs is already described. However, as some pediatric cases reported in literature are associated with craniofacial anomalies, the fetal face study performed on this clinical case intend to screen the same and to contribute for a more routinely application of the fetal face assessment on this type of cases to promote a more earlier prenatal diagnosis., (undefined)

Os autores descrevem o caso de um encefalocelo frontal (com 7,2 mm) diagnosticado às 10+2 semanas numa primigesta, caucasiana, de 27 anos, sem antecedentes médico-cirúrgicos relevantes. Ecograficamente não foram encontradas outras malformações associadas. Face à literatura por nós consultada, este é aparentemente o caso mais precoce de encefalocelo isolado com diagnóstico pré-natal (46, XY). No seguimento intra-uterino até às 17 semanas, a dimensão da lesão atingiu os 16 mm e acompanhou o crescimento fetal. A evolução intra-uterina e o estudo complementar com ressonância magnética fetal cerebral contribuíram para a decisão da interrupção médica de gravidez às 18 semanas. O exame necrópsico foi totalmente concordante., NASCER E CRESCER - BIRTH AND GROWTH MEDICAL JOURNAL, Vol 23, No 4 (2014)