Rectal gastric heteroptopia in a child. Case-report of casuistic pathology

Heterotopy of gastric mucosa in the rectum in children is a rare malformation to keep in mind when examining a child with a rectal bleeding. About 5 such clinical cases in children were described in the literature over the past 10 years. This condition is congenital, due to impaired tissue differentiation during embriogenesis. This case-report demonstrates the diagnostics and treatment of a child with rectal gastric heteroptopia.

A Rare Case of Allantoic Cyst with Patent Urachus in Fetus with a Microdeletion in 1q21.1q21.2 Region

An allantoic cyst is a rare malformation with a frequency of 3 in 1,000,000 that may be seen antenatally by ultrasound assessment when the connection between the cloaca (future bladder) and the allantois fails to regress. A patent urachus that presents as a cyst (allantoic) is usually considered not to be associated with chromosomal abnormalities, but if it is not repaired after birth this leads to complications such as urinary tract infections and stone formation. We present a case of a fetus diagnosed with allantoic cyst at the first trimester ultrasound assessment at 12 weeks gestation. The follow up scans showed a decrease in size of the allantoic cyst with no other obvious major defects and, when invasive testing (amniocentesis with microarray analysis) was performed, a rare microdeletion, 1q21.1q21.2 was identified (1.82 Mb deletion).

Esophageal Interventions in Infants Born with Esophageal Atresia: A Comprehensive Analysis of a National Database

Introduction Esophageal atresia (EA) is a rare malformation that often requires a series of procedures, including surgical primary anastomosis, staged repair, and endoscopic procedures. Actual numbers and trends in interventions and variety in treatment strategies remain unclear. Materials and Methods Data from the German federal bureau of statistics containing all EA-related inpatient procedures encoded from 2005 until 2018 were analyzed for children during the first year of life. The sum of esophageal anastomoses and replacements was used to calculate an estimate of incidence of EA. Results Over 14 years, 12,627,888 inpatient cases were recorded in infants in Germany. The mean incidence of EA was 1 per 4,217 live births. On average, 163.3 (95% confidence interval [CI]: 150.8–176.1) esophageal anastomoses, 11.2 (95% CI: 8.7–13.7) esophageal lengthening procedures, and 6.7 (95% CI: 5.42–8.00) esophageal replacements were recorded annually. Overall, 187.8 (95% CI: 147.1–200.4) endoluminal treatments (ballon dilatation, bougienage, stent placement, or injection) were performed per 100 anastomoses. Over the years, bougienage was increasingly replaced by ballon dilatation as primary treatment. Boys had a significantly higher number of esophageal procedures than girls, but the incidence of endoscopic treatments in relation to anastomoses was the same for both genders. Conclusion The low incidence of EA in relation to a relatively large number of units treating those patients in Germany may pose challenges for maintaining competency and training of all specialists involved. The number of esophagoscopic treatments for esophageal stricture per anastomosis is lower than previously estimated.

Bifid Tongue and Cleft Palate: A Rare Congenital Malformation

Background: Congenital bifid tongue without other craniofacial abnormalities is a very rare malformation. Here, we discuss a case of the bifid tongue with cleft palate, reported in a 7-month-old girl with no other syndromes or craniofacial abnormalities. Case Reports: This case report described a 7-month-old girl with an anterior bifid tongue, separated medially by a soft, solitary sublingual mass measuring 3 cm x 2 cm in size. There was also an associated incomplete cleft palate. A soft solitary mass measuring 2 cm x 2 cm in size was also seen within the cleft palate. Results: Computed facial tomography (CT) revealed a midline hard palate defect with an intact alveolar process of the maxilla. Pedunculated cystic lesion suspected with epulis was noted to arise on premaxillary alveolar mucosa. Excision of the tongue and hard palate mass and repair of the bifid tongue were done. Summary: Congenital bifid tongue with a cleft is a very rare malformation with different variations. Early surgical intervention is critical to prevent speech impairment and swallowing disorders. A multidisciplinary approach, including well-planned staged operations and rehabilitation, is important to achieve favorable outcomes.

Anomalous Origin of the Right Pulmonary Artery From the Aorta and Congenital Tracheal Stenosis: Staged Repair in a Neonate

Anomalous origin of the right pulmonary artery from the ascending aorta (AORPA), sometimes referred to as hemitruncus, is a rare malformation. We report a unique case of AORPA associated with Ebstein's anomaly and with congenital tracheal stenosis due to complete tracheal rings. The AORPA and tracheal stenosis were both successfully corrected in the neonatal period.

Primary closure of superior partial sternal cleft in a 2-month-old girl: case report

Background Sternal cleft is a quite rare malformation. It is seen 1 out of 100,000 live births and makes up less than 1% of all chest wall deformities, seen more often among females. The deformity can be partial or complete. Partial deformities can be superior or inferior. It is generally diagnosed at birth when paradoxical respiratory movements are seen. Patients are often asymptomatic when they are born and generally other abnormalities accompany. As sternal clefts can be repaired primarily at early ages, they are repaired using autologous or synthetic grafts in the following years. We present a 2-month-old girl with superior partial sternal cleft repaired primary and accompanying hemangiomas in this case report. Case presentation A girl who was born in another center and had a sternal cleft, who did not have any problems in the early period, was admitted to our hospital with respiratory distress at the age of 43 days. The patient was monitored with mechanical ventilator support, and there were hemangiomas around his left ear and lips. There were paradoxical respiratory movements in front of the heart, in the upper midline of the chest. Three-dimensional computed tomography showed that the upper part of the sternum did not develop, and there were hypoplasic sternal bars on both sides. It was evaluated as superior partial sternal cleft, and surgery was planned. In the operation, the sternal bars were released from the pericardium and pleura. The periosteum in the medial of both sternal bars was then released and connected in the midline, in front of the pericardium. Conclusion Although neonates with a sternal cleft are asymptomatic at birth, respiratory symptoms may develop in later periods. In addition, because the structures are more flexible in the neonatal period, the primary repair of the cleft is easier and the risk of cardiac compression is lower. In our case, sternal bars could be approached primary, and no chondral grafts, patches, or steel wires were required.

Caudal Regression Syndrome

Caudal Regression Syndrome (CRS) is a rare malformation syndrome associating to varying degrees agenesis of the coccygeal or lumbosacral vertebrae.This vertebral anomaly can therefore be reduced clinically to a simple coccygeal agenesis without any deficit or even lumbosacral agenesis accompanying a clinical picture with sphincter disorders associated or not with transit disorders and various deficits involving the lower limbs.This syndrome is accompanied by other orthopedic malformations such as shortening of the lower limbs, and / or gastrointestinal abnormalities, see also genitourinary as well as cardiovascular.Its incidence is 1 to 5 cases per 100,000 births. Its precise cause has not yet been identified, but its relationship to maternal diabetes is well established. We report in our study 5 patients with CRS from different clinics whose sphincter disorders were found in the foreground in all our patients and whose results vary according to the inaugural clinical picture. MRI made it possible to refine and confirm the diagnosis highlighting the congenital anomaly and the associated lesions.We have obtained 75% good results and 25% clinical stabilization; nor do we deplore any case of aggravation or death. The interest is to suspect the diagnosis of CRS; document it at the start of the prenatal period and determine its severity and associated abnormalities in order to present options for patient management; because once the diagnosis is made, surgical treatment becomes imperative due to the formidable neurological sequelae compromising the functional prognosis.

First branchial cleft fistula: a case report and literature review

Background First branchial cleft fistula is a rare malformation of the neck and head. The purpose of this report is to showcase a method of treating first brachial cleft fistula while preserving the facial nerve. Case presentation This case report presents an 8-year-old female with a type 2 first branchial cleft fistula. The treatment process follows multidisciplinary approach with the aid of health professionals from different departments, pre-op magnetic resonance imaging (MRI) scanning to map the fistula, and the use of nerve monitoring device (NIM). Conclusion The procedure was successfully done while preserving the facial nerve.

Rare uterine didelphis and cervical pregnancy

Due to increased vaginal bleeding, a surgical operation was performed on a woman with cervical pregnancy. A diagnosis of uterine didelphis (UD) was made during surgery. The hypogastric arteries on both sides were ligated. After controlling the bleeding, the 3Department of XXX, University of XXX, XXX Training and Research Hospital, City, Country abdomen was closed. Uterine defects are a rare malformation that can cause a variety of obstetric problems in pregnant women, and 4Department of XXX, Faculty of XXX, City, Country they must be closely monitored and treated in terms of cervical pregnancy growth. As the pregnancy week continues, life-threatening bleeding may occur, and the patient may need a hysterectomy to stop the bleeding.