Paediatric radiology
Brice Antao, S Irish Michael, Anthony Lander, S Rothenberg MD Steven in Succeeding in Paediatric Surgery Examinations, 2017
From the list of options above, choose the most likely diagnosis for the following clinical scenarios. Each option may be used once, more than once, or not at all. A newborn child has an abdominal wall defect with herniation of bowel and liver. Further assessment reveals a scoliosis. Prenatal chromosomal assessment was abnormal (XO).An abdominal wall defect occurs in a child with associated amputation of the right arm at the mid-forearm. The defect is on the left side and there is no membrane covering the herniated bowel.A neonate is born with a relatively small abdominal wall defect that is to the right of the midline. No amnion covers the herniated bowel and it is non-rotated. No other congenital abnormalities are demonstrable.A newborn child with an abdominal wall defect is described as having Beckwith–Wiedemann’s syndrome, which includes macroglossia, gigantism, pancreatic hyperplasia and hypoglycaemia. What is the abdominal wall defect in this syndrome?
Prune belly syndrome
Prem Puri in Newborn Surgery, 2017
Prune belly syndrome represents a spectrum of disease severity, ranging from those that die within the first few days of life to those that survive with relatively stable renal function in childhood. The most obvious defect in newborns with the syndrome is the shriveled prune belly–like appearance of the abdominal wall due to a deficiency in the abdominal wall musculature (Figure 82.1). The affected muscles in decreasing order of frequency are the transversus abdominis, rectus abdominis below the umbilicus, and internal oblique, external oblique, and rectus abdominis above the umbilicus.22–24 Biopsy from the abdominal musculature shows that major functioning or recoverable muscle exists in the lateral and upper sector of the abdomen, but that little or no muscle exists in the lower central abdomen.25 Light microscopy shows a thin mass of muscle tissue with an irregular pattern of fatty infiltration interdigitated with the muscle. Electron microscopy shows a loss of coherence and internal orientation.26 Z-bands are shattered and disarranged, and glycogen granules are clumped in various areas. The abdominal wall defect may result in chronic constipation and respiratory infection. In addition, this defect increases the risk of postoperative pulmonary complications in patients who undergo general anesthesia. It is also impossible for the patient with a complete manifestation of the triad syndrome to raise himself/herself from the supine position to the sitting position without using the arms or rolling over and pushing up. However, the defect itself does not have prognostic significance.
Management of Enterocutaneous Fistula
Jeff Garner, Dominic Slade in Manual of Complex Abdominal Wall Reconstruction, 2020
Reconstruction of a contaminated abdominal wall defect represents a particular technical and strategic challenge for the surgeon. Where the contamination is the result of a mature enterocutaneous fistula these challenges are magnified, and there is a complex spectrum of care required to achieve a successful outcome for the affected patient; if such fistulas occur from bowel exposed in an open abdominal wound (laparostomy), they are referred to as enteroatmospheric. The yearly incidence of enterocutaneous fistulation is unknown but data from the two UK national intestinal failure units suggest that some 25 cases with enterocutaneous and 8 cases with enteroatmospheric fistula undergo surgical reconstruction each year.1,2 National guidance recommends that referral to an intestinal failure unit should be considered in cases who have, or are at risk of developing, intestinal failure.3
Gestational Outcomes of Pregnancies with Prenatally Detected Gastroschisis and Omphalocele
Published in Fetal and Pediatric Pathology, 2019
Fatih Aktoz, Ozgur Ozyuncu, Atakan Tanacan, Erdem Fadiloglu, Canan Unal, Tutku Soyer, Tolga Celik, Mehmet Sinan Beksac
Gastroschisis was defined as the presence of a paraumbilical abdominal wall defect, usually to the right of the midline, with visceral herniation on ultrasound examination. The umbilical cord insertion site adjacent to the defect was normal. The intestines floated freely in the amniotic fluid without a covering membrane. Omphalocele was defined as an upper, middle, or lower midline abdominal wall defect covered by an outer membrane of amnion and an inner membrane of peritoneum containing abdominal contents on ultrasound examination [3, 4]. All omphalocele cases were evaluated in terms of associated syndromes like Pentalogy of Cantrell, amniotic band sequence, schisis association, OEIS syndrome (omphalocele, exstrophy of the bladder, imperforate anus, spinal defects), Shprintzen syndrome, Carpenter syndrome, Goltz syndrome, Marshall-Smith syndrome, Meckel-Gruber syndrome, otopalato-digital type II syndrome, CHARGE (coloboma, heart defect, atresia choanae, restricted growth and development, genital abnormality, and ear abnormality) syndrome, and Beckwith-Wiedemann syndrome (macroglossia, gigantism, omphalocele) [14–16]. A detailed ultrasound examination was performed in order to detect coexisting abnormalities and all cases were evaluated by medical genetics. Suspicious findings for a fetal abdominal wall defect was recorded during the first trimester ultrasound scan of all the cases. However, final diagnosis was confirmed by detailed fetal abnormality screening performed between the 18th and 22nd gestational weeks by an expert perinatologist.
Severe Adams-Oliver Syndrome after Maternal COVID-19 Infection Could Be Another Effect of the SARS-CoV-2 Inflammatory Storm? Case Report
Published in Fetal and Pediatric Pathology, 2023
Marcos Masaru Okido, Conrado Savio Ragazini, Geraldo Duarte, Conrado Milani Coutinho, Alessandra Cristina Marcolin
Cesarean section was performed at 37 + 0 weeks’ gestation. The newborn (NB) male weighed 1,195 g, was 29 cm in length, and had an Apgar score of 4/9. The NB lacked forearms, hands, legs, and feet. The fetal head had an extensive area of skin and skull aplasia. Part of the fetal brain was visualized due to tissue transparency (Fig. 3). The NB had a large area of skin and underlying tissue agenesis over the abdomen. The umbilical cord had usual insertion site. An area of abdominal wall defect was detected on the left side with protrusion of the intra-abdominal contents (Fig. 4). The infant was placed under palliative care and died the following day. Autopsy permission was not granted. The parents provided written informed consent to publish her case (including publication of images).
Prenatal Diagnosis and Management of Ectopia Cordis: Varied Presentation Spectrum
Published in Fetal and Pediatric Pathology, 2019
Gürcan Türkyilmaz, Sahin Avcı, Tugba Sıvrıkoz, Emircan Erturk, Umut Altunoglu, Sebnem Erol Turkyilmazlmaz, Ibrahim Halil Kalelioglu, Recep Has, Atil Yuksel
Intra- and extracardiac anomalies accompany the majority of cases. EC is frequently found in association with pentalogy of Cantrell, a syndrome involving five anomalies: (a) a midline supraumbilical abdominal wall defect, (b) a sternal cleft, (c) ventral diaphragmatic hernia, (d) congenital heart defects, (e) and EC. A ventricular septal defect is the most common cardiac anomaly; also atrial septal defect, tetralogy of Fallot, double-outlet right ventricle and ventricular diverticulum commonly coexist with EC [17]. Neural tube defects, such as anencephaly, encephalocele and cranioschisis have been reported with Cantrell syndrome. Gallbladder agenesis and polysplenia may be other attending anomalies. Vertebral anomalies, clubfoot, the absence of tibia, fibula or radius have been reported in a few case reports [18,19]. The association of an abdominal wall defect with EC is the hallmark of this syndrome in the prenatal period. The prenatal findings were concordant with pentalogy of Cantrell in four fetuses in our series (Cases 1, 2, 3 and 7). We detected a large abdominal wall defect with EC in all of these cases, but unfortunately, we could not show a cardiac malformation in any case. We scanned the patients in the first trimester in three patients (Cases 1, 2 and 3) and due to early gestation, we could not perform an adequate cardiac screening. We could not scan these cases in the second trimester because the patients opted for termination of pregnancy. We performed a postnatal evaluation in all of these cases, but we did not find an additional structural cardiac malformation. Tetralogy of Fallot was identified in postnatal echocardiography in Case 7, but we could not demonstrate this anomaly in fetal life.
Related Knowledge Centers
- Abdominal Wall
- Atrazine
- Birth Defect
- Gastroschisis
- Genetic Testing
- Omphalocele
- Ultrasound
- Abdomen
- Alpha-Fetoprotein
- Genetic Counseling