Intestinal Malrotation in Children: Clinical Presentation and Outcomes.

INTRODUCTION: Intestinal malrotation (IM) is characterized by abnormal intestinal rotation and fixation predisposing to a risk of midgut volvulus. The aim of this study was to describe the clinical presentation and outcome of IM from birth through childhood. MATERIALS AND METHODS: This was a retrospective study of children with IM managed at a single center between 1983 and 2016. Data were retrieved from medical records and analyzed. RESULTS: Three hundred nineteen patients were eligible for the study. Using strict inclusion and exclusion criteria, 138 children were included. Vomiting was the most common symptom up to 5 years of age. At 6 to 15 years of age, abdominal pain was the predominant symptom. One hundred twenty-five patients underwent a Ladd's procedure and of 124 patients with available data, 20% had a postoperative complication (Clavien-Dindo IIIb-V) within 30 days. The odds ratio to develop postoperative complications was significantly increased in extremely preterm patients (p = 0.001) and in patients with severely affected intestinal circulation (p = 0.006). Two patients had intestinal failure due to midgut loss after midgut volvulus, one of whom needed intestinal transplantation. Four patients, all extremely preterm, died related to the surgical procedure. In addition, seven patients died of reasons not related to IM. Fourteen patients (11%) had adhesive bowel obstruction and one patient had recurrent midgut volvulus requiring surgical treatment. CONCLUSIONS: IM presents with different symptoms through childhood depending on age. Postoperative complications are common after Ladd's procedure, particularly among extremely preterm infants and patients with severely affected circulation caused by midgut volvulus.

Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation.

BACKGROUND: Intestinal malrotation is a potentially life-threatening congenital anomaly due to the risk of developing midgut volvulus. The reported incidence is 0.2%-1% and both apparently hereditary and sporadic cases have been reported. Intestinal malrotation is associated with a few syndromes with known genotype but the genetic contribution in isolated intestinal malrotation has not yet been reported. Rare copy number variants (CNVs) have been implicated in many congenital anomalies, and hence we sought to investigate the potential contribution of rare CNVs in intestinal malrotation. METHODS: Analysis of array comparative genomic hybridization (aCGH) data from 47 patients with symptomatic intestinal malrotation was performed. RESULTS: We identified six rare CNVs in five patients. Five CNVs involved syndrome loci: 7q11.23 microduplication, 16p13.11 microduplication, 18q terminal deletion, HDAC8 (Cornelia de Lange syndrome type 5 and FOXF1) as well as one intragenic deletion in GALNT14, not previously implicated in human disease. CONCLUSION: In the present study, we identified rare CNVs contributing pathogenic or potentially pathogenic alleles in five patients with syndromic intestinal malrotation, suggesting that CNV screening is indicated in intestinal malrotation with associated malformations or neurological involvements. In addition, we identified intestinal malrotation in two known syndromes (Cornelia de Lange type 5 and 18q terminal deletion syndrome) that has not previously been associated with gastrointestinal malformations.

Manifestations of small bowel disease in pediatric Crohn's disease on magnetic resonance enterography.

BACKGROUND: We report the manifestations of Crohn's disease (CD) observed on magnetic resonance enterography (MRE) in a pediatric population at the time of CD diagnosis. METHODS: MRE of 95 consecutive pediatric patients with inflammatory bowel disease (IBD) examined in 2006-2009 were retrospectively analyzed, with documentation of findings based on type and location of the small bowel (SB) disease. RESULTS: In all, 51 were boys and 44 girls. 54 had CD, 31 non-CD IBD, and 10 no IBD. The most common site of SB involvement in CD was the terminal ileum seen in 29 (53.7%) patients, followed by ileum in 10 (18.5%) and jejunum in 9 (16.7%) patients. Solitary jejunal inflammation (3.7%), SB stenoses (1.9%), fistula formation (0.95%), and abscess (0.95%) were much less common. Perienteric lymphadenopathy was seen in 30 (55.6%) patients and fatty proliferation in 9 (16.7%). The most common manifestation of SB inflammation was increased contrast enhancement of bowel wall (93.5%), thickening of the bowel wall (90.3%), and derangement of bowel shape with saccular formations (25.8%). CONCLUSIONS: MRE in the pediatric population often demonstrates increased contrast uptake, bowel wall thickening, and perienteral lymphadenopathy in CD. More chronic small bowel changes seen commonly in adults and solitary jejunal involvements are less commonly seen.

Does enteral contrast increase the accuracy of appendicitis diagnosis?

BACKGROUND: Several approaches traditionally have helped opacify the bowel when computed tomography (CT) is used to diagnose appendicitis. With the development of multidetector row CT (MDCT), the need for enteral contrast agents is less obvious. Purpose The objective of this study was to evaluate retrospectively the accuracy of MDCT demonstration of appendicitis using enteral contrast agents. METHODS: We reviewed radiologic reports of all 246 adult patients with suspected appendicitis who underwent 16-slice MDCT during 2005-2006 at our department. The use of enteral contrast agents and the route of administration were documented by one investigator. A radiologist evaluated whether the responses in the reports were consistent with diagnosis of appendicitis. The accuracy of the radiologic reports was assessed using the results of surgery, histopathology and 3 to 21 months of follow-up. RESULTS: Of patients studied, 14.6% received no enteral contrast agent, 8.5% received both oral contrast and rectal contrast (enema), 46.7% received oral contrast and 30.1% received rectal contrast enemas. The accuracies for the CT diagnosis of appendicitis with different combinations of agents ranged from 95% to 100%, with no significant difference among groups. CONCLUSION: Our study shows that the accuracy for diagnosis of appendicitis by abdominal 16-slice MDCT is high regardless of enteral contrast use. Therefore, further use of enteral contrast agents for CT diagnosis of appendicitis in adults cannot be recommended.

The accuracy of focused abdominal CT in patients presenting to the emergency department.

Focused computed tomography(CT) examination (FCT) is CT limited to a specific abdominal area in an attempt to reduce radiation exposure. We wanted to evaluate FCT on the basis of information from the request form and thus reduce radiation dose to the patient without missing relevant findings. We retrospectively analyzed 189 consecutive acute abdominal CT, dividing the findings as localized in the upper or lower abdomen. Another researcher blindly determined where the CT should be focused to, based only on information provided in the request form. The sensitivity and specificity of FCT in patients with symptoms from only upper abdomen was 100%. Sensitivity, specificity, and accuracy of FCT in patients with symptom from only lower abdomen were 79%, 100%, and 92%, respectively. Our study suggests that among patients with symptoms from the lower abdomen, not examining the upper abdomen would lead to missing relevant findings.

Hyrtl's anastomosis is normally developed in placentas from small for gestational age infants.

BACKGROUND: The aim of this study was to investigate the occurrence and appearance of the anastomosis between the two umbilical arteries in placentas from infants small for gestational age (SGA). METHODS: The arterial systems of 64 placentas from singleton pregnancies resulting in SGA infants were visualized by angiography. The method allowed study of the anastomosis between the umbilical arteries and calculation of the relative placental area supplied by each artery. The results were compared with findings in a previous study of appropriate for gestational age (AGA) infants. One-way analysis of variance (ANOVA) and chi2-analyses were used for statistics. RESULTS: In 56 placentas the anastomosis was represented by a true vessel, in two by a fenestration, and in another two cases by fusion of the umbilical arteries. The anastomosis was absent in one case and another three cases had a single umbilical artery (SUA). When the diameter of the anastomosis was thinner than that of the umbilical arteries, their supply areas were significantly (p < or = 0.001) more symmetrical than in cases with a wider anastomosis. The anatomy of the anastomosis and the relationship between its width and the symmetry between the supply areas of each umbilical artery did not differ in placentas from SGA and AGA infants, despite various types of cord insertion and placentation. CONCLUSION: Static measurements of Hyrtl's anastomosis do not indicate a contributing part for intrauterine growth retardation.