Background:In 1996, Donovan and colleagues represented a scoring system for better prediction of Hirschsprung disease (HD).Objectives:Our objective was to devise another scoring system that uses a checklist of radiologic and clinical signs to determine the probability of HD in suspicious patients.Patients and Methods:In a diagnostic accuracy study, 55 children with clinical manifestations of HD that referred to a training hospital from 1998 to 2011 were assessed. A checklist was used to evaluate the items proposed by contrast enema (CE), based on six subscales, including transitional zone, rectosigmoid index (RSI), irregular contractions in aganglionic region, cobblestone appearance, filling defect due to fecaloid materials and lack of meconium defecation during the first 48 hours after birth. The patients were classified as high score and low score. Sensitivity, specificity, positive predictive value and negative predictive value of our scoring system were calculated for identifying HD, in comparison with pathologically proved or ruled out HD.Results:Of the 55 patients, 36 (65.4%) cases had HD and 19 (34.6%) cases were without HD. In the HD group, 32 patients showed high scores and four patients had low scores. The sensitivity and specificity of our diagnostic scoring system were 88.9% (95% CI: 78.6% - 99.1%) and 84.2% (95% CI: 68.7% - 100%), respectively. Moreover, positive predictive value (PPV) and negative predictive value (NPV) were 91.4% (95% CI: 82.1% - 100%) and 80% (95% CI: 62.5% - 97.5%), respectively.Conclusions:Our new scoring system of CE is a useful diagnostic method in HD. If a patient’s score is high, that patient is highly suspicious to HD and reversely, when one’s score is low, the patient presents a reduced probability to be diagnosed with HD.

BackgroundPlain radiography and contrast radiologic studies are traditionally the main options in evaluating neonates presenting with bilious vomiting. While ultrasonography (US) is more available, its diagnostic accuracy is in question.ObjectivesThe purpose of this study is to determine the diagnostic accuracy of US in evaluating these patients with bilious vomiting.Patients and MethodsAll neonates with bilious vomiting or bilious nasogastric tube drainage presented to a children’s hospital in a 1.5-year period were included. US were performed in all patients. The results were compared with clinical and radiological data and the final diagnosis. We used chi-square and Fisher’s exact tests for analysis.ResultsThe cause of bilious vomiting for 18 of the 23 included patients was surgical. All patients labeled as surgical candidates by US ended in surgery [positive predictive value (PPV) = 100%], while only 50% of the patients with inconclusive US were operated [negative predictive value (NPV) = 50%, Confidence Interval (CI) 95%: 29%-71%]. The sensitivity and specificity of US in diagnosing intestinal atresia (n = 9) was 89% [CI 95%: (68% - 100%)] and 100%. In cases with malrotation (n = 4) and midgut volvulus (n = 2), sonographic diagnosis was in concordance with final surgical diagnosis.ConclusionThis study suggested that in cases in which US makes a certain diagnosis, its accuracy eliminates the need for further diagnostic tests, but if it is inconclusive, further radiological contrast studies should be tried to make the final diagnosis.

Appendiceal intussusception is an uncommon form of intussusception. Most of the literature regarding appendiceal intussusception discusses the colonoscopic diagnosis or surgical treatment of the condition. Sonographic findings have rarely been described. We present a case of preoperative sonographic diagnosis of appendiceal intussusception.

This study demonstrated that neonatal and infantile autopsy continued to provide clinically useful data in 25% of cases and remains an invaluable tool in pediatric medicine.

Cutis laxa (CL) is a rare congenital and acquired disorder characterized by loose and redundant skin with reduced elasticity. Three types of congenital cutis laxa have been recognized. Other findings are pulmonary emphysema, bronchiectasia, hernia and diverticulosis. We describe a female neonate involved by cutis laxa syndrome and a positive family history. We focus on the radiologic findings of this case such as multiple bladder diverticulosis, GI diverticulosis and very rare accompanying hypertrophic pyloric stenosis (HPS).

Objective: An estrogen-only-producing adrenal tumor is a rare etiology of isosexual precocious puberty (PP) in girls. Methods: We describe a 2.5-year-old girl who presented with signs and symptoms of isosexual PP. In primary laboratory and imaging investigations, serum estradiol level was found to be increased, while follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, cortisol, testosterone, and 17-hydroxyprogesterone levels were shown to be within normal ranges. Abdominopelvic ultrasound and abdominal computed tomography revealed a right-sided adrenal mass, which was initially assumed to be an incidentaloma. Diagnosis of an adrenal cortical tumor was confirmed by tumor resection. Histologic examination revealed the tumor to be a benign adenoma with scattered areas of necrosis. Results: Tumor resection resulted in normalized serum estradiol and diminished clinical signs after 3 weeks. The child received no additional treatment and remains symptom free after 30 months of close observation. Conclusion: With the intent to spread the awareness of adrenocortical tumors as a potentially malignant cause of PP in children, and due to the rarity of an estrogen-producing adrenal mass, we discuss the clinical and biochemical features of our patient and a brief review of the literature.