Congenital epulis is a rare benign oral cavity tumor that usually arises from the maxillary alveolar mucosa. It is also known as congenital gingival granular cell tumor. Prenatal diagnosis is uncommon and mostly confined to the third trimester. We report a case of congenital epulis, which was referred to our department at 35 weeks of gestation. Both images from our prenatal 2D/3D ultrasound (including Doppler technique) and magnetic resonance examination are presented. A baby girl weighing 2,800 g was delivered spontaneously at 36 weeks and 1 day. The newborn had to be intubated immediately after delivery. A simple excision of the mass was performed on the first day of neonatal life after clinical examination by our pediatric stomatologists confirmed the presence of a tumor resembling epulis. The correctness of this diagnosis was subsequently confirmed by histogenesis. Photographs from the operating room show the postnatal appearance of the tumor. The baby was discharged at the age of 19 days and has remained well at follow-up controls.
Objectives: To assess whether fetal bladder volume can be used in the prediction of spontaneous resolution of prenatal hydronephrosis (PNH) and to determine the feasibility of measuring bladder volume using three-dimensional (3D) ultrasound, in comparison with two-dimensional (2D) bladder measurement. Methods: Receiver operating characteristic (ROC) analysis was used to assess the diagnostic accuracy of 2D bladder volume in predicting prognosis in PNH. Virtual organ computer-aided analysis (VOCAL) was performed to calculate 3D bladder volume for cases where 3D measurements were available and then 2D and 3D bladder volume measurement agreement was determined using a paired t-test and difference against the mean plots. Results: ROC analysis showed that 2D bladder volume could not predict the spontaneous resolution of PNH for the 42 cases included. Gestational age, at first diagnosis of PNH, could predict prenatal resolution; area under the ROC curve (AUC) = 0.83 (95% confidence interval (CI) 0.70 -0.95) and postnatal resolution within the first few weeks of birth; AUC = 0.76 (95% CI 0.61 -0.91). There was a correlation between gestational age and bladder volume, with a 25% increase in bladder volume for each week gestation (95% CI 21-30%). 2D and 3D bladder volume measurements showed acceptable agreement in the 17 cases included. Conclusions: 2D Bladder volume measurement agrees with 3D measured using VOCAL software and is unable to predict the spontaneous resolution of PNH. Interestingly, PNH diagnosed at earlier gestational age resolved prenatally or by the first weeks of life, questioning the need for multiple prenatal scans which increase parental anxiety and use limited medical resources. Further research to validate these results and reduce the limitations of this retrospective pilot study is warranted. We present our first experience on using HDlive Studio to diagnose Apert syndrome. Case: A 31-year-old pregnant Japanese woman was referred to our hospital due to suspected head skull bone abnormalities at 20 weeks and 1 day of gestation. 2D sonography showed clover leaf-like skull. HDlive Studio clearly showed protruded forehead. X-ray mode showed broad metopic and sagittal sutures and large anterior and posterior fontanelles. HDlive Studio depicted fused fingers and toes at 28 weeks an 1day of gestation. Diagnosis of Apert syndrome was highly suggested. She was delivered vaginally of a viable female fetus at 41 weeks and 4days of gestation. Her birth weight was 3,836g with Apgar scores of 7 (1min) and 9 (5min), and umbilical artery pH 7.208. Craniosynostosis and syndactly of fingers and toes were noted. Postnatal examination confirmed the diagnosis of Apert syndrome. Conclusion: HDlive Studio can be useful adjunctive diagnostic tool to confirm fetal congenital anomalies due to its realistic-like images. Emanuel syndrome, a rare complex disease described in 1980, is characterised by hypotonia, microcephaly, severe psychomotor delay, micrognathia, orofacial clefts, congenital heart anomalies and hypoplastic k...
Ústav pro péči o matku a dítě, Praha 2 Klinika zobrazovacích metod 2. LF UK a FN Motol, Praha 3 3. LF UK, Praha Schizencefalie je vzácná vrozená vývojová vada centrálního nervového systému (CNS), která se manifestuje kombinací psycho motorické retardace a epilepsie. Výsledný klinický obraz je velmi variabilní a obtížně predikovatelný i při použití velmi přesných zobrazovacích metod CNS. Výraznou diskrepanci mezi závažným morfologickým postižením CNS a absencí očekávaných sym ptomů prezentuje případ těžce nezralého novorozence, u kterého byla bilaterální schizencefalie diagnostikována postnatálně. Kazuistika demonstruje překvapivý morfologický vývoj schizencefalie, asociované anomálie (septo optická dysplázie) a příznivý klinický stav pacienta v jednom roce korigovaného věku.Klíčová slova: schizencefalie, vrozená vývojová vada CNS, extrémně nezralý novorozenec, septo optická dysplázie. Bilateral schizencephaly in a preterm newbornSchizencephaly is a rare congenital developmental defect of the central nervous system. It is manifested by a combination of motor deficit, mental retardation and epilepsy. The resulting clinical picture is extremely variable and difficult to predict despite highly accurate neoroimaging. Significant discrepancy between severe morphological disability and absence of expected symptoms is also described in the case report of our patient. Bilateral schizencephaly was diagnosed in a extremely premature newborn in the intensive care unit. It describes the subsequent development of the defect, associated anomalies (septooptic dysplasia) and the clinical condition of the patient up to one year of corrected age.
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