scholarly journals Antenatal Diagnosis of a Rare Neural Tube Defect: Sincipital Encephalocele

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
Mehdi Kehila ◽  
Sana Ghades ◽  
Hassine Saber Abouda ◽  
Aida Masmoudi ◽  
Mohamed Badis Chanoufi

Context. Fetal sincipital encephalocele is one of the most serious congenital neural tube defects with a high risk of mortality and neonatal morbidity. Prenatal diagnosis of this malformation is important in fetal medicine.Case Report. We report a case of prenatal diagnosis of sincipital encephalocele using ultrasound and MRI imaging. The diagnosis was done at 25 weeks of gestation by identifying an anterior cephalic protrusion through a defect in the skull.Conclusion. Through this case, we discuss the differential diagnosis, management, and prognosis of such lesions.

2021 ◽  
Vol 14 (3) ◽  
pp. e237669
Author(s):  
Susan Addley ◽  
Moiad Alazzam ◽  
Catherine Johnson ◽  
Hooman Soleymani majd

Gastrointestinal stromal tumours (GISTs) are rare - and rectovaginal extragastrointestinal stromal tumours (RV-EGISTs) even rarer. We share a case of RV-EGIST, complemented by high-quality radiological and surgical images. A review of current literature pertaining to RV-EGIST is also included. Our case report highlights the diagnostic challenge presented by extragastrointestinal stromal tumours. Differentiated from overlapping pathologies only by targeted application of immunohistopathology and cytogenetics, the inclusion of RV-EGIST in the differential diagnosis of a rectovaginal tumour is essential to making this correct diagnosis. Primary surgery is the treatment of choice for RV-EGIST if complete cytoreduction can be achieved, combined with adjuvant tyrosine kinase inhibitor (TKI) therapy for those with high-risk features to further reduce rates of future recurrence.


2005 ◽  
Vol 29 (4) ◽  
pp. 293-298 ◽  
Author(s):  
Virginia Karapanou

This report demonstrates a simple endodontic solution to an interdisciplinary case of a patient with multiple gene deficiencies. An adolescent patient presented with an impacted premolar that could not be extracted due to high-risk conditions. A suspicious degree of radiolucency around the crown was clinically diagnosed as dentigerous cyst. The treatment dilemma and implementation are discussed. This case report offers a different treatment option for impacted teeth when significant differential diagnosis of a pericoronal lesion dictates treatment.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Kaihui Zeng ◽  
Dongmei Li ◽  
Yao Zhang ◽  
Chengcheng Cao ◽  
Ruobing Bai ◽  
...  

Abstract Background Congenital megaduodenum is a rare disorder; however, its prenatal diagnosis has not been reported previously. We report the case of an abdominal cystic mass in a fetus that was later diagnosed as megaduodenum. Case presentation An abdominal cystic mass was found during ultrasonography of a fetus at 11 weeks of gestation. The mass progressively enlarged with gestation. The amniotic fluid volume decreased and then returned to normal. During the last prenatal ultrasound examination, the mass was observed communicating with the stomach; therefore, duodenal dilation was suspected. Finally, the patient was diagnosed with megaduodenum caused by a developmental defect in the nerve plexus. Conclusions Congenital megaduodenum is a differential diagnosis of massive fetal abdominal cystic masses. Ultrasound examinations of such masses communicating with the stomach may help determine the diagnosis.


2021 ◽  
pp. 1-3
Author(s):  
Thomas Glenn ◽  
Jose Honold ◽  
Beth F. Printz ◽  
Dana Mueller

Abstract A 4-hour-old infant with profound cyanosis on an alprostadil infusion was urgently transferred to Rady Children’s Hospital with suspected CHD. Upon arrival, urgent echocardiography was performed but could not confirm the presence of discrete pulmonary veins or pulmonary venous drainage. Given the difficulty in delineating the anatomy, a cardiac CT scan was performed and demonstrated a nearly atretic common pulmonary vein with multiple small collaterals that drained to systemic veins. Due to the high risk of mortality associated with operative repair, the decision was made to proceed with compassionate withdrawal of care. The described anatomy of common pulmonary vein atresia remains rare, and to our knowledge, fewer than 40 cases have been reported in the literature. Albeit rare, common pulmonary vein atresia should be considered in the differential diagnosis of a severely cyanotic neonate.


2016 ◽  
Vol 64 (3) ◽  
pp. 555
Author(s):  
Edna Karina García ◽  
Pedro Alberto Sierra ◽  
Omar Quintero-Guevara ◽  
Lina Jaramillo

Immunity defects are important predisposing factors to aggressive infections with high risk of mortality. The case of a teenager with a history of immunodeficiency, who developed gas gangrene infection originated in the left lower limb is reported here. The disease progressed in less than 24 hours, developed systemic involvement and led to multiple organ failure and death. Pathophysiological aspects and features of the agent are reviewed here, highlighting the importance of high index of clinical suspicion and immediate handling.


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