Journal of Perinatology (2006) 26, 375–377 r 2006 Nature Publishing Group All rights reserved. 0743-8346/06 $30 www.nature.com/jp PERINATAL/NEONATAL CASE PRESENTATION Intestinal malrotation in neonates with nonbilious emesis

K El-Chammas1, W Malcolm2, AM Gaca3, K Fieselman4 and CM Cotten2 1Department of Pediatrics, American University of Beirut Medical Center, Beirut, Lebanon; 2Department of Pediatrics, Division of Neonatology, Duke University Medical Center, Durham, NC, USA; 3Department of Radiology, Duke University Medical Center, Durham, NC, USA and 4East Carolina University, Greenville, NC, USA

Cases Intestinal malrotation is a relatively uncommon condition with diverse Case 1 outcomes. Familiarity with variations in the presentation of malrotation is Baby #1 is a term female (birth weight 3255 g) with a past medical imperative as early diagnosis and prompt subsequent surgical intervention history significant for apneic episodes including a life-threatening are essential to optimizing outcome. The most frequent clinical sign in the event on the second day of life in the well-baby nursery that neonate is -stained emesis. We report three cases of unsuspected necessitated cardiopulmonary resuscitation. Extensive work-up at malrotation that were diagnosed in neonates with a history of nonbilious the time included ruled out sepsis, as well as normal results on emesis who were assessed for presumed gastroesophageal reflux or brain magnetic resonance imaging, electroencephalogram, aspiration. Gastroesophageal reflux is a common condition among electrocardiogram and gastric emptying scan. A sleep study newborns, and can be a subtle presentation of malrotation. Clinicians revealed central and obstructive apnea and, after a period of should consider malrotation as a possible cause of reflux, particularly in observation, the infant was sent home on caffeine and a home infants with unusually pathologic or persistent symptoms necessitating apnea monitor. She was seen in the follow-up clinic and was noted ongoing treatment for reflux. to have recurrent episodes of nonbilious emesis with breast feeding. Journal of Perinatology (2006) 26, 375–377. doi:10.1038/sj.jp.7211507 The patient had normal feeding, growth and bowel movement Keywords: malrotation; gastroesophageal reflux patterns, with no report of fevers or abdominal pain. She underwent an upper gastrointestinal (GI) tract contrast study that revealed spontaneous GER and malrotation without any evidence of (Figure 1). The team was consulted Introduction and the patient was admitted to the general pediatric ward. The Intestinal malrotation is a relatively uncommon condition with following day, she underwent a Ladd’s procedure to correct the diverse outcomes. Bilious emesis is its most common presenting malrotation, in addition to an appendectomy. Soon thereafter, her sign.1 Gastroesophageal reflux (GER) is a relatively common, but reflux symptoms improved and her 9-month neurodevelopmental vexing problem for neonatologists caring for infants in the testing was normal. She has had no surgical complications. neonatal intensive care unit (NICU) and postdischarge. Gastroesophageal reflux can present with or without emesis, but emesis associated with GER with no obstruction, is expected to be Case 2 nonbilious. Owing to the prevalence of medical treatment for GER Baby #2 is a male born prematurely by Cesarean section at 30 in NICU infants, especially preterm infants,2 which we suspect is weeks gestation owing to maternal pre-eclampsia, (birth weight often performed without prior radiological evaluation, we report 1330 g). During his NICU stay, respiratory distress quickly resolved here three cases of unsuspected intestinal malrotation that were and after 48 h of antibiotics for suspected sepsis, he was discharged diagnosed in neonates who were being assessed for presumed GER to a community hospital for an unremarkable convalescent period. or aspiration, with a history of nonbilious emesis. The cases serve He was discharged home 3 weeks later. He was brought to the as a reminder of the difficulties involved in diagnosing Emergency Department at the age of 2½ months status malrotation, one very serious potential underlying cause of GER postcardiopulmonary arrest at home, was resuscitated and admitted symptoms in infants. for further management after suffering anoxic brain injury. During this hospitalization, he was noted to have recurrent nonbilious Correspondence: Dr CM Cotten, Assistant Clinical Professor of Pediatrics, Clinical Research emesis without any other GI symptoms. An upper GI tract contrast Director, Duke Neonatology, Director Special Care Nursery, Durham Regional Hospital, Box study was performed to assess the emesis and was significant for 3179 DUMC, Durham, NC 27710, USA. E-mail: [email protected] reflux as well as malrotation (Figure 2). He subsequently Received 29 September 2005; revised 12 March 2006; accepted 21 March 2006 underwent a Ladd’s procedure with an appendectomy, and a Nissen Malrotation with nonbilious emesis K El-Chammas et al 376

Case 3 Baby #3 is a male born prematurely at 32 weeks of gestation (birth weight 1660 g), with a history pertinent for multiple episodes of ‘feeding intolerance’ characterized solely by nonbilious emesis, with an acute life-threatening event. During the evaluation of his emesis at the age of 1½ months, an upper GI contrast study revealed reflux and malrotation. Ladd’s procedure with appendectomy and a Nissen fundoplication were performed. Follow-up developmental testing at 18 months was significant for growth failure, oral feeding difficulties and language delays. Surgical complications included hospital admissions for an incarcerated , esophageal stricture and small bowel obstruction, all necessitating further surgical intervention.

Discussion Malrotation, the incomplete or abnormal rotation of the GI tract about the superior mesenteric artery, is a relatively uncommon condition associated with diverse outcomes. Familiarity with Figure 1 Subtle case of malrotation, with duodenal–jejunal junction variations in the presentation of malrotation is imperative as early located at the same level as the gastric antrum, but not located to the diagnosis and prompt subsequent surgical intervention are left of the left pedicle of the spine. essential to optimizing outcome in many cases. The actual incidence of malrotation in infants and children beyond the neonatal period is difficult to estimate, as such anomalies may remain asymptomatic and undetected throughout life. Approximately 50 to 70% of cases are diagnosed during the neonatal period; about 50% present in the first week of life, and over 60% present before the end of the first month.1,3 A substantial number of cases present beyond the neonatal period; most present in infancy but up to 20% become symptomatic after the first year of life.4,5 Male infants are more frequently affected than female infants.6 There have been few published series that delineate the clinical characteristics of children with malrotation. The most frequent reported sign in neonates is bile-stained emesis, which should always be viewed seriously and urgent investigations undertaken to establish the cause.1 Bilious emesis is a sign of intestinal obstruction, not exclusively malrotation. In one report of 63 infants evaluated for bilious , 24 had a surgical diagnosis; among these, four had malrotation.7 More chronic GI signs, such as intermittent pain and vomiting, are more commonly manifested by 8 Figure 2 Upper gastrointestinal (GI) examination demonstrates older children. The risk of volvulus is reduced in patients 4 failure of duodenal–jejunal junction to cross midline, consistent with over 1 month of age compared to patients in the neonatal period. malrotation. Abdominal radiographs may show a dilated with a fluid level and some gas in the distal bowel; however, it may be interpreted as normal in 20% of cases.6 The upper GI contrast study is the preferred study in patients presenting nonacutely, despite the fundoplication. His 18-month neurodevelopmental assessment risk of contrast aspiration, one of the major objections to this study showed global developmental delays with spastic quadriplegia. He in the presence of suspected high obstructions – but in cases has had no surgical complications of the Ladd’s procedure or involving growing premature infants, this is not a likely concern.4 Nissen. The appropriate position of the duodenojejunal junction is to the

Journal of Perinatology Malrotation with nonbilious emesis K El-Chammas et al 377 left of the left pedicle of the spine, and at the same craniocaudal malrotation in mind as a possibility. We recommend consideration level as the pylorus. Signs of malrotation noted with this study are of a radiographic contrast study on infants whose GER symptoms incomplete duodenal obstruction, duodenojejunal flexure to the appear unusually severe or persistent, with or without reflux right of the expected location, proximal jejunal loops lying medications, or will undergo an antireflux surgical procedure such abnormally on the right side of the , and a ‘high’ as fundoplication. seen with delayed follow through films.4 Contrast enema examination is unreliable in confirming the diagnosis, as the position of the cecum is extremely variable.9 A contrast meal is References more accurate in defining the size, shape, rotation and the presence of obstruction in the duodenum or upper jejunum.9 1 Millar AJW, Rode H, Brown RA, Cywes S. The deadly vomit: malrotation and Ultrasound, with Doppler flow characteristics, assesses the position midgut volvulus. Pediatr Surg Int 1987; 2: 172–176. and relative relationship of the superior mesenteric vessels; reversal 2 Malcolm WF, Cotten CM for the NICHD Neonatal Research Network Anti- of that position in volvulus, otherwise known as the sonographic Reflux Medications (ARM) at NICU Discharge for Extremely Low Birth whirlpool sign, is a valid and highly sensitive sign for the diagnosis Weight (ELBW) Infants Society for Pediatric Research, 2006 Poster presentation. of midgut volvulus secondary to malrotation, but is not sufficiently 10,11 3 Filston HC, Kirks DR. Malrotation-the ubiquitous anomaly. J Pediatr Surg accurate to confidently exclude malrotation or volvulus. 1981; 16: 614–620. Laparoscopy may also be used to confirm or exclude the diagnosis 4 Yanez R, Spitz L. Intestinal malrotation presenting outside the neonatal 12 and, in selected cases, may even be used for treatment. period. Arch Dis Child 1986; 61(7): 682–685. In contrast to malrotation, GER is a frequent diagnosis in 5 Cywes S, Millar AJW. Embryology and anomalies of the intestine. Bockus newborns, especially preterm infants in the NICU. In some centers, Gastroenterology, e5th edn. WB Saunders: Philadelphia, PA, 1995 pp 899– more than half of very low birth weight infants who survive to 929. discharge are sent home on antireflux medications, while in 6 Millar AJW, Rode H, Cywes S. Malrotation and volvulus in infancy and others, less than 10% receive this therapy.2 This variation is likely childhood. Sem Pediatr Surg 2003; 12(4): 229–236. due, at least in part, to the uncertainty clinicians have for the 7 Godbole P, Stringer MD. Bilious vomiting in the newborn: how often is it appropriate diagnostic tests to use to diagnose GER and assess its pathologic? J Pediatr Surg 2002; 37: 909–911. clinical significance. It has been suggested that malrotation can be 8 Seashore JH, Touloukian RJ. Midgut volvulus. An ever-present threat. Arch Pediatr Adolesc Med 1994; 148(1): 43–46. an important factor responsible for delayed gastric emptying in 13 9 Simpson AJ, Leonidas JC, Krasma IH, Becker JM, Schneider KM. Roentgen GER. In a series of 74 children undergoing Nissen fundoplication diagnosis of midgut malrotation: value of upper gastrointestinal radio- for persistent GER unresponsive to intensive medical treatment, graphic study. J Pediatr Surg 1972; 7: 243–252. there was an unexpectedly high incidence of intestinal malrotation, 10 Dufour D, Delaet MH, Dassonville M, Cadranel S, Perlmutter N. Midgut whereas in another series none of the 21 patients undergoing malrotation, the reliability of sonographic diagnosis. Pediatr Radiol 1992; radiological investigation for GER had malrotation.14,15 This 22: 21–23. evidence reinforces the fact that the upper GI contrast study is not a 11 Patino MO, Munden MM. Utility of the sonographic whirlpool sign in definitive gold standard test to diagnose reflux, but could be useful diagnosing midgut volvulus in patients with atypical clinical presentations. for diagnosing the potentially lethal malformation, or other Ultrasound Med 2004; 23(3): 397–401. anatomic causes, in severe cases of GER. 12 Gross E, Chen MK, Lobe TE. Laparoscopic evaluation and treatment of The three cases discussed here all presented with nonbilious intestinal malrotation in infants. Surf Endosc 1996; 10: 936–937. emesis and without any emergent signs suggestive of malrotation. 13 Demirbilek S, Karaman A, Gurunluoglu K, Akin M, Tas E, Aksoy RT et al. Delayed gastric emptying in gastroesophageal reflux disease: the role of Following on the suspicion of unusually severe GER or persistent malrotation. Pediatr Surg Int 2005; 21(6): 423–427. nonbilious emesis in these infants, upper GI contrast studies were 14 Kumar D, Brereton RJ, Spitz L, Hall CM. Gastro-oesophageal reflux and performed in each case that revealed reflux as well as malrotation, intestinal malrotation in children. Br J Surg 1988; 75: 533–535. and the recommended surgical treatment was carried out. With the 15 Aksglaede K, Pedersen JB, Lange A, Funch-Jensen P, Thommesen P. Gastro- common suspicion of GER and prevalent use of antireflux esophageal reflux demonstrated by radiography in infants less than 1 year of medications in neonates, physicians should keep the diagnosis of age. Comparison with pH monitoring. Acta Radiol 2003; 44: 136–138.

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