PRENATAL DIAGNOSISPrenat Diagn 2007; 27: 872–873.Published online 25 June 2007 in Wiley InterScience(www.interscience.wiley.com) DOI: 10.1002/pd.1790

RESEARCH LETTER

Left-sided gastroschisis and bilateral multicystic dysplastickidneys: a rare combination of anomalies

Pankaj Prasun1*, Mandakini Pradhan1, Niraj Kumari2 and Vinita Das3

1Sanjay Gandhi Postgraduate Institute of Medical, Sciences, Medical Genetics, Lucknow, India2Sanjay Gandhi Postgraduate Institute of Medical Sciences, Pathology, Lucknow, India3King George Medical University, Obstetrics and Gynecology, Lucknow, India

Left-sided gastroschisis is very rare. We report a case of left-sided gastroschisis associated with bilateralmulticystic dysplastic kidneys. This combination of anomalies is unknown. The pathogenesis of gastroschisisis not well understood. It is now viewed as a malformation rather than disruption. The findings in this casesupport this view. The combination of dysplastic kidneys with ventral body wall defect suggests an earlydevelopmental defect. Copyright 2007 John Wiley & Sons, Ltd.

KEY WORDS: gastroschisis; multicystic dysplastic kidney; abdominal-wall defect; left-sided

The spectrum of congenital abdominal wall defects iswide and includes gastroschisis, omphalocele, exstrophyof the cloaca or bladder, pantalogy of Cantrell, and limbbody wall complex. A usually small body wall defectlateral to the umbilicus and not covered by membraneis considered as gastroschisis. The defect is almostalways to the right of umbilicus. Left-sided gastroschisisis extremely rare. We describe a fetus with left-sidedgastroschisis and bilateral multicystic dysplastic kidneys.The combination of anomalies observed in this case isunusual and has not been reported before. The etiologyof gastroschisis, particularly the left-sided, is unclear.We also provide a speculative pathogenesis of thefindings observed in our case.

A male fetus of 24 weeks of gestation was broughtto our department for autopsy after termination of preg-nancy following the prenatal diagnosis of bilateral mul-ticystic dysplastic kidneys with severe oligohydramnios.There was a left-sided abdominal wall defect about1.5 cm lateral to the insertion of umbilical cord. Thedefect was circular with regular margin and approxi-mately 5 × 3 cm in dimension. The intestinal loops andpart of the left kidney had herniated through the defect(Figure 1). There was no membrane covering the evis-cerated organs. Internal examination revealed bilaterallyenlarged kidneys with multiple fluid-filled cysts. The leftkidney was partly inside the abdomen and part of it washerniated through the defect. Most of the large and smallintestines were herniated and the abdominal cavity wasrelatively empty. The other organs were normal. Thehistopathology of the kidneys was reported as multicys-tic and dysplastic.

Gastroschisis is a full-thickness defect in the abdom-inal wall just to the right of a normal insertion of the

*Correspondence to: Pankaj Prasun, Sanjay Gandhi Postgradu-ate Institute of Medical, Sciences, Medical Genetics, Lucknow226014, U.P., India. E-mail: drpankajprasoon@yahoo.co.in

umbilical cord into the body wall. A variable amountof intestine, and occasionally parts of other abdominalorgans are herniated outside the abdominal wall withno covering membrane or sac. Left-sided gastroschisisis extremely rare. Reviewing the literature, we foundtwelve observations of left-sided gastroschisis (Blair andMarshall, 1988; Hirthler and Goldthorn, 1989; Toth andKimura, 1993; Thepcharoennirund, 2000; Fraser andCrabbe, 2002; Arroyo Carrera et al., 2003; Ameh et al.,2004; Orpen et al., 2004; Yoshioka et al., 2004; Gowet al., 2006). Most of them did not have an associatedanomaly. The defect identified in our case is markedlydifferent from the left paraumbilical defects describedpreviously. Orpen et al. (2004) have reported a caseof left-sided gastroschisis with pseudoexstrophy. Left-sided paraumbilical abdominal wall defect has not beenreported with multicystic dysplastic kidneys before.

The pathogenesis of gastroschisis is not fully under-stood. Various hypotheses have been proposed: (1) fail-ure of mesoderm to form in the body wall, (2) ruptureof the amnion around the umbilical ring with subse-quent herniation of bowel, (3) ischemic insult to thedeveloping abdominal wall. Pathogenesis of left-sidedgastroschisis is unclear. Regression of left umbilical veinhas been suggested as the defect resembles right-sidedgastroschisis (Yoshioka et al., 2004). This theory cannotexplain the findings in our case. If we consider abdomi-nal wall defect and dysplastic kidneys together then it ishard to imagine a primary vascular accident as causativeof both.

Feldkamp et al., (2007) have provided an excellentreview on the pathogenesis of gastroschisis. They havesuggested that gastroschisis may be a malformation(an abnormality occurring during early development)rather than a disruption (an abnormality produced afternormal development). Abnormality of body wall closureby body folds has been suggested as the underlyingdefect.

Copyright 2007 John Wiley & Sons, Ltd. Received: 14 February 2007Revised: 8 May 2007

Accepted: 10 May 2007Published online: 25 June 2007

MULTICYSTIC KIDNEYS: A RARE COMBINATION OF ANOMALIES 873

Figure 1—Left-sided abdominal wall defect with evisceration ofbowel loops and left kidney. 254 × 190 mm (72 × 72 DPI)

Our observation supports this view. The associationof renal dysplasia with body wall defect suggests anetiology operative during early embryogenesis. Reviewof embryology of kidneys and ventral body wall suggestssome similarity between the two, which is also supportedby mice models.

Bone morphogenetic protein 4 (BMP4) is a secretorysignaling molecule implicated in many aspects of embry-onic development, ranging from establishment of basicembryonic plan to morphogenesis of individual organs(Hogan, 1996). It plays an important role during kidneydevelopment. It determines the site of initial ureteralbudding on Wolffian duct and regulates the branchingmorphogenesis of the ureter (Miyazaki et al., 2000). Inaddition, it also stimulates the growth of metanephricmesenchyme (Miyazaki et al., 2003). Defects in thesefunctions lead to development of dysplastic kidneys inBmp4 +/− mice.

Similarly, BMP4 is supposed to play an importantrole in ventral body wall closure. Ventral body wall

closure defects have been observed in mice in whichBmp4 production is defective (Goldman et al., 2006).

The finding of two distinct anomalies in our casesuggests an early embryonic event affecting both. Adefective common factor such as the signaling moleculeBMP4 may explain these defects, as well as supportthe recently held view of gastroschisis as malformationrather than disruption.

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Copyright 2007 John Wiley & Sons, Ltd. Prenat Diagn 2007; 27: 872–873.DOI: 10.1002/pd