Angelini P

Campagnano S

D'ANDREA, Vito

DE CRISTOFARO, Flaminia

De Vargas Macciucca M

Leo E

PANZIRONI, Giuseppe

Ricci F

Italian

Archivio della ricerca- Università di Roma La Sapienza

CHIRURGIA ITALIANA 2001 - Voi. 53 N. 5 PP 723-727 723Heterotaxia: radiologica! andsurgical observationsin a case of polysplenicsyndromeGIUSEPPE PANZIRONI, FLAMINIA DE CRISTOFARO, PATRIZIA ANCELINI, FRANCESCA RICCI,SARAH CAMPACNANO, MARINA DE VARGAS MACCIUCCA, ENRICO LEO*, VITO D'ANDREA*Department of Radiology, University of Rome "La Sapienza", Rome* 3rd Department of Surgery, University of Rome "La Sapienza", RomePoliclinico "Umberto I", Rome, ItalyRiassunto Gli Autori descrivono il caso di una paziente asintomatica portatrice di una sindrome po-lisplenica diagnosticata mediante immagini ultrasonografiche, radiografiche e di risonan-za magnetica, e confermata all'atto chirurgico. Una malformazione della milza è fre-quentemente associata al quadro dell'eterotassia ed ad altre malformazioni di organi to-racici ed addominali, ma non può essere evidenziata nessuna caratteristica patognomo-nica legata a tale condizione. Nel caso descritto, le indagini radiologiche hanno eviden-ziato la presenza di una milza polilobulata in una sede atipica, al di sotto del fegato, as-sociata al malposizionamento del fondo gastrico e della giunzione gastroesofagea, coninterruzione della vena cava inferiore ed in assenza di malformazioni congenite cardia-che. In conclusione, la sindrome polisplenica rappresenta una rara condizione cllnica lacui diagnosi è spesso occasionale perché asintomatica nell'adulto. L'utilizzo di più meto-di radiologici permette di distinguere la presenza di masse patologiche in sede mediasti-nica piuttosto che addominale e di determinare l'esatta anatomia delle strutture coinvolteonde poter programmare in maniera idonea un eventuale atto chirurgico, qualora doves-se rendersi necessario.Parole c/i/ave:eterotassia, polisplenia, vena cava inferioreSummary Heterotaxia: radiological and surgical observations in a case of polysplenic syndrome.C. Panzironi, F. De Cristofaro, P. Angelini, F. Ricci, S. Campagnano, M. De Vargas Mac-ciucca, E. Leo, V. D'AndreaWe describe a case of asymptomatic polysplenic syndrome as suggested by ultrasono-graphy, gastrointestinal series, computed tomography, magnetic resonance imaging scansand arteriography, and confirmed at surgery. Spleen malformation is frequently associatedwith heterotaxia and other malformations of thè thoracic and abdominal organs, but nopathognomonic features can be detected in relation to this condition. In our patient, ima-ging studies revealed thè presence of a polylobulated spleen in an atypical positionCorrespondence to: Or. Giuseppe Panzironi - Via Lima 31 - 00198 Roma724 HETEROTAXIA: SURGICAL AND RADIOLOCICAL OBSERVATIONS ON A CASE OF POLYSPLENIC SYNDROMEbelow thè liver, associated with malpositioning of thè gastric fundus and gastro-oesopha-geal junction with interruption of thè inferior vena cava, but no congenita! heart disease.In conclusion, polysplenic syndrome is a rare clinical condition, occasionally found inasymptomatic adults. Radiological detection could be mistaken for mediastinal or abdo-minal pathological masses, and only a thorough study performed with several differentradiologica! methods can determine thè precise anatomy of thè structures involved so asto be able to pian surgery where necessary.Key words: heterotaxia, polysplenia, inferior vena cava.Chir Ital 2001; 53, 5: 723-727IntroductionThe heterotropy or heterotaxia syndrome is anabnormal position of organs and great vessels1, pro-bably due to thè abnormal rotation of some anato-mical structures in a direction different from that ofthè principal axis, or to their position on thè side op-posite to thè one normally occupied.In this case thè new position is different from thatin thè situs solitus or in thè situs inversus2, and is de-fined as "situs ambiguus", where normally asymme-tric structures can become symmetric1'3.Heterotropy is a rare genetic syndrome with auto-somal recessive inheritance, characterised by an inci-dence of 1-5/100004. It is a polymorphic syndrome,since there is no single pathognomonic abnormality.One form of heterotaxy is isomerism characteri-sed by a symmetric position of thè abdominal andchest organs, associated with congenital abnormali-ties. Usually, during embryogenesis, development ofthè hemithorax is asymmetric: in isomerism, thè twohemithoraxes have a mirror image and thè right orleft hemisomus arrangement can prevaii1"4'5.Right isomerism, also defined as "asplenic syn-drome", is more common in male patients and oc-curs with severe cyanosis, transposition of thè greatvessels, pulmonary stenosis or atresia and systemicvenous abnormalities, splenic agenesia and a tran-sverse liver. Most of these patients die during theirfirst year of life6.Left isomerism, also defined as "polysplenic syn-drome", is more common in females and is general-ly characterised by thè presence of several spleensor a single lobulated spleen, with a less severe clini-cai picture and prognosis, in that thè patients are so-metimes asymptomatic and therefore have a betterchance of survival6.The case reported here is that of an asymptoma-tic female patient with a polysplenic syndrome, whi-ch could only be diagnosed with thè aid of imagingstudies.Case reportA 51-year-old female patient was admitted to ourhospital for elective umbilical hernia. She had un-dergone appendectomy when she was 29 years old.Routine laboratory examination findings were nor-mal .During hospitalisation, following an acute abdo-men episode with colie pain and bilious emesis,routine radiological studies were performed. ChestX-rays did not reveal any abnormality. A plain filmof thè abdomen showed a gastric bubble under thèdiaphragm, left colie flexure and intestinal loops intheir normal sites and radiopaque gallstones.Abdominal ultrasonography revealed a midlineliver and two smooth masses located between thè li-ver and thè right kidney, with rounded margins, mo-derately hypoechoic as compared to thè liver paren-chyma and with a diameter not exceeding 3-4 cm.(Fig. 1).The spleen was not evident in its typical locationand thè pancreas could not be explored because ofmeteorism.Fig. 1. Abdominal ultrsonography showing two splenuiesunder thè liver parenchyma.CHIRURCIA ITALIANA 2001 - Voi. 53 N. 5 PP 723-727 725In view of these findings, other examinations we-re required, consisting in a centrasi study of thè ga-strointestinal tract, computed tomography and ma-gnetic resonance imaging.The contrast study of thè gastrointestinal tractconfirmed thè malpositioning of thè gastro-oesopha-geal junction and of thè superior gastric portion;neither oesophageal hiatal hernia nor gastro-oe-sophageal reflux were detected. The duodenum for-med its normal backward "C", and thè duodeno-jejunal junction was in its typical site (Fig. 2).Computed topography (CT) and magnetic reso-nance imaging (MRI) confirmed thè presence of asmooth textured mass below thè liver with roundedmargins, which was interpreted as thè spleen in anatypical location, and an abnormal vascular pediclewith correct positioning of thè splenic artery andvein, thè latter regularly draining into thè superiormesenteric vein (Fig. 3).Both imaging methods showed a considerabledilation of thè azygous vein (azygous continuation),a dilated right diaphragmatic vein and thè absenceof thè inferior vena cava with independent suprahe-patic veins draining directly into thè right atrium.The correct position of thè gastric fundus wasconfirmed.Since thè patient was also scheduled for cholecy-stectomy, angiography was performed in order todetect other possible vascular malformations. Itshowed a common hepatic artery originating fromthè superior mesenteric artery , thè absence of thèinferior vena cava with an enlarged azygous veinand thè coeliac trunk with thè left gastric and sple-nic arteries running together to thè right side.Cholecystectomy revealed a single lobulatedspleen with its vessels between thè superior pole ofthè right kidney and thè liver, while thè gastro-oe-sophageal junction was found in its normal posi-tion.DiscussionIn addition to multiple splenules (2 to 10) locatedalong thè greater gastric curvature, various types ofabnormalities can be observed in polysplenic syn-drome: partial situs inversus, cardiovascular malfor-mations (dextrocardia, defects in thè atrial or ventri-cular septum and absence of thè coronary sinus), in-terruption of thè inferior vena cava with collateraldrainage via an azygous or hemiazygous vein andindependent drainage of thè hepatic vein into thè ri-ght atrium, left chest isomerism with bilateral bilo-bated lungs, absence of a gallbladder, biliar atresia,a transverse liver, and an annular pancreas or lack ofits caudal portion1 <2<4'7-8.The complex malformations occurring in thisFig. 2. Contrast study of thè gastrointestinal tract demon-strating malpositioning of thè gastro-oesophageal junctionand of thè superior gastric portion and stones in thè gall-bladder.Fig. 3. Tl-weighted MR image of thè upper abdomenshowing a right-sided spleen with its own vessels underthè liver and a retrocrural dilated azygos vein.726 HETEROTAXIA: SURGICAL AND RADIOLOGICAL OBSERVATIONS ON A CASE OF POLYSPLENIC SYNDROMEsyndrome are thè result of development abnormal i-ties during thè embryonal period.The fact that heart and intestina! rotations occurduring thè 4th week of thè embryonal period ex-plains thè frequent coexistence of both cardiovascu-lar and abdominal abnormalities. Total or partiallack of rotation causes thè abnormal position of thèanatomical structures9.During thè 5th week, thè spleen develops froma mesodermic proliferation between thè two lea-ves of thè dorsal mesogastrium. With thè forma-tion of thè lesser peritoneal sac, thè dorsal part ofthè mesogastrium, between thè spleen and thèdorsal midline, fuses with thè posterior abdominalwall, while thè residuai portion of thè mesoga-strium forms thè splenorenal ligament, where thèvessels fixing thè spleen in thè upper left abdomi-nal quadrant run9.Usually, during thè 4th-5th week, thè stomachrotates clockwise to thè left, while thè liver rotates tothè right; in these cases thè stomach rotates counter-clockwise, thus determining thè abnormal positionof thè organs in thè mesogastrium, as in thè case re-ported here10.As far as thè inferior vena cava malformationsare concerned, it should be noted that during em-bryogenesis thè inferior vena cava is composed offive segments, each of different origin4; at times,some of thè segments of thè inferior vena cavaeither fail to form or fail to connect in thè usuaimanner.The lack of a hepatic-subcardial anastomosiscauses thè absence of thè hepatic segment of thè in-ferior vena cava; thus, thè blood returns from thèlower part of thè body to thè right atrium throughthè azygous and hemiazygous veins and thè supe-rior vena cava. The suprahepatic veins are indepen-dent and drain into thè right atrium.Although 'thè presence of ali thè abnormalities inpolysplenic syndrome constitutes a very characteri-stic condition, there is no single pathognomonic ab-normal ity1.The left chest isomerism, thè situs ambiguus ofthè abdominal organs, thè absence of thè hepaticsegment of thè inferior vena cava and thè multiplespleens strongly suggest a polysplenic syndrome, buttheir concomitant presence is not found in ali pa-tients. Moreover, unlike thè asplenic syndrome, the-re is no Constant association with heart malforma-tions, and even when these are present, they are of-ten only minor heart defects, such as dextrocardia orseptal defects5.Por these reasons polysplenic syndrome can bedetected in asymptomatic adults as an incidental fin-ding during evaluation for other disorders, as in thècase in point1.In actual fact no cardiovascular malformationsworthy of note were found in our patient. CT, MRIand ultrasonography can provide accurate informa-tion about chest morphology, abdominal organs andtheir anatomical relationships. Ali morphologicalabnormalities, malpositionings and vascular malfor-mations can be c lea r l y detected using thesemethods, particularly CT scans with contrast enhan-cement and color-Doppler ultrasonography5; MRimaging, with thè multiplanarity and peculiar abilityto visualise thè main vessels, is particularly suitablefor thè evaluation of thè abnormalities associatedwith polysplenic syndrome.At present, thè possibility of obtaining angio-graphic-type images through MRI and spirai CT an-giography makes it possible, at times, to avoid con-ventional angiography, as, for instance, in thè studyof minor vascular malformations which may be pre-sent in polysplenic syndrome, such as a commoncoeliac-mesenteric vessel3'5.It is worth emphasising that often even a stan-dard X-ray examination can provide numerous use-ful elements for defining thè abnormalities found inthè syndrome, such as thè presence of a right gastricbubble, dextrocardia, absence of thè inferior venacava in thè lateral view and thè widening of thè pa-ravertebral pleural reflection in thè right or left para-tracheal area indicating a dilated azygous and he-miazygous System1'11, or thè absence of thè minorfissure and hypoarterial position of both bronchi, in-dicating a left isomerism1'3'5'11.The role of ultrasonography in thè prenatal dia-gnosis of this syndrome should also be stressed, th-rough detection of thè aorta and an enlarged azy-gous vein running together in a paraspinal retrocar-diac location (doublé vessel sign) caused by hyper-tension of thè inferior vena cava12.In conclusion, thè polysplenic syndrome is a rarecondition, occasionally found in asymptomaticadults5. Radiological detection could be mistakenfor mediastinal or abdominal pathological masses,and only an accurate study performed with severaldifferent radiological methods can provide a firmdiagnosis5.References 1. Winer-Muram HT, Tonkin ILD. The spectrum of thè heterotaxic syndrome. Rad Clin NorthAm 1989; 27: 1147-70.CHIRURCIA ITALIANA 2001 - Voi. 53 N. 5 PP 723-727 7272. Chang J, Brueckner M, Touloukian RJ. Intestinal rotation and fixation abnormalities in hetero-taxia: early detection and management. J Pediat Surg 1993; 28: 1 281 -5.3. Tonkin ILO, Tonkin AK. Visceroatrial situs abnormalities: sonographic and computed tomo-graphic appearance. AJR 1982; 138: 509-15.4. Conord S, Thiesse Ph, Kaemmerlen P, Douek Ph. J Radio! 1 996; 77: 145-7.5. Winer-Muram HT. Adult presentation of heterotaxic syndromes and related complex. J ThoracImaging 1995; 10: 43-57.6. Rose V, Izukawa T, Moes AF. Syndromes of asplenia and polysplenia. A review of cardiac andnon-cardiac malformations in 60 cases with special reference to diagnosis and prognosis. BrHeartJ 1975; 37: 840-52.7. Moller JH, Nakib A, Anderson RC, Edwards JE. Congenital cardiac disease associated withpolysplenia. A development complex of bilateral "left-sidedness". Circulation 1967; 36: 789-99.8. Moller JH, Amplatz K, Wolfson J. Malrotation of thè bowel in patients with congenital heartdisease associated with splenic anomalies. Radiology 1971 ; 99: 393-8.9. Nakada K, Kawaguchi F, Wakisaka M, Nakada M, Enami T, Yamate N. Digestive tract disor-ders associated with asplenia/polysplenia syndrome. J Pediat Surg 1997; 32: 91-4.10. Dodds WJ, Taylor AJ, Erikson SJ, Stewart ET, Lawson TL. Radiological imaging of splenic ano-malies. AJR 1990; 155: 805-10.11. Chuang VP, Mena CE, Hoskins PA. Congenital anomalies of thè inferior vena cava. Review ofembryogenesis and presentation of a simplified classification. Br J Radiol 1974; 47: 206-1 3.12. Sheley RC, Nyberg DA, Kapur R. Azygous continuation of thè interrupted inferior vena cava:a clue to prenatal diagnosis of thè cardiosplenic syndromes. J Ultrasound Med 1995; 14:381-7.

“Heterotaxia: radiological and surgical observations in a case of polysplenic syndrome”.

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“Heterotaxia: radiological and surgical observations in a case of polysplenic syndrome”.

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