127 Crazytaxy: case report of heterotaxy syndrome with polysplenia

Abstract

<h3>Introduction</h3> Heterotaxy syndrome is a rare congenital defect. It affects the anatomical position and function of visceral organs. Its clinical signs and symptoms are highly variable.¹ Antenatal and postnatal investigations and management should be tailored to each individual. <h3>Case</h3> Antenatal ultrasound at 13 weeks’ gestation suggested total situs inversus. At 21 weeks, ultrasound revealed a midline liver, a right-sided stomach and left atrial isomerisation. Antenatal foetal echocardiogram confirmed an azygous continuation of the inferior vena cava. Heart structure was otherwise normal. The female infant was born at 39+3 weeks by elective C-section. She did not require neonatal resuscitation. She was admitted to NICU and kept NPO, pending further investigations. Abdominal ultrasound confirmed a midline liver and gallbladder. The stomach and multiple splenules were visualised in the right upper quadrant. An upper GI contrast revealed intestinal malrotation, with no evidence of obstruction. A blood film identified Howell Jolly bodies. ECG showed normal sinus rhythm. ECHO displayed a small VSD and confirmed antenatal echocardiogram findings. Following consultation with the Paediatric Surgery team, enteral feeds were introduced on Day Two. Phenoxymethylpenicillin was prescribed indefinitely, on the advice of Paediatric Immunology. The patient was discharged on Day Eight. Outpatient follow-up is planned with Neonatology, Cardiology and Immunology. <h3>Discussion</h3> Situs inversus is genetically heterogenous, with variable inheritance patterns. A differential diagnosis should include Heterotaxy Syndrome and Kartagener’s Syndrome (primary ciliary dyskinesia).² Antenatal echocardiogram identifies potentially life-threatening cardiac anomalies. Some neonates may require pacemaker insertion for congenital heart block.³ Serial antenatal ultrasound is recommended to exclude hydrops fetalis. Abdominal ultrasound and blood film are essential to assess splenic function. Asplenia or polysplenia spleen poses a higher risk from encapsulated organisms, such as Streptococcal pneumoniae. Lifelong phenoxymethylpenicillin may be necessary to prevent sepsis or meningitis.⁴ Conclusion Heterotaxy Syndrome is rare, complex congenital disorder. Antenatal investigations are essential to determine foetal viability and inform neonatal management. Neonates require an array of postnatal investigations and may require long-term subspecialty follow-up. <h3>References</h3> Kim SJ. Heterotaxy syndrome. <i>Korean Circ J</i>. 2011;41(5):227-232. doi:10.4070/kcj.2011.41.5.227 Shapiro AJ, Tolleson-Rinehart S, Zariwala MA, Knowles MR, Leigh MW. The prevalence of clinical features associated with primary ciliary dyskinesia in a heterotaxy population: results of a web-based survey. <i>Cardiol Young</i> 2015;25(4):752-759. doi:10.1017/S1047951114000912 Escobar-Diaz MC, Tworetzky W, Friedman K, Lafranchi T, Fynn-Thompson F, Alexander ME, Mah DY. Perinatal outcome in fetuses with heterotaxy syndrome and atrioventricular block or bradycardia. Pediatr Cardiol 2014 Aug;35(6):906-13. doi: 10.1007/s00246-014-0874-x. Epub 2014 Feb 9. PMID:24509635; PMCID: PMC4331180. Kothari SS. Non-cardiac issues in patients with heterotaxy syndrome. Ann Pediatr Cardiol 2014;7(3):187–192. doi:10.4103/0974-2069.140834