CC BY-NC-ND 4.0 · AJP Rep 2018; 08(04): e301-e306
DOI: 10.1055/s-0038-1675337
Case Report
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Fetal/Neonatal Pericardial Effusion in Down's Syndrome: Case Report and Review of Literature

Pramod Pharande
1   Department of Neonatology, Nepean Hospital, Kingswood, New South Wales, Australia
2   School of Women's and Children's Health, Sydney Medical School Nepean, University of Sydney, Kingswood, New South Wales, Australia
3   Monash Newborn, Monash Children's Hospital, Melbourne, Victoria, Australia
,
Kiran Kumar Balegar Virupakshappa
1   Department of Neonatology, Nepean Hospital, Kingswood, New South Wales, Australia
2   School of Women's and Children's Health, Sydney Medical School Nepean, University of Sydney, Kingswood, New South Wales, Australia
,
Bhavesh Mehta
4   Grace Centre for Newborn Care, The Children's Hospital at Westmead, Westmead, New South Wales, Australia
5   School of Women's and Children's Health, University of Sydney, New South Wales, Australia
,
Nadia Badawi
4   Grace Centre for Newborn Care, The Children's Hospital at Westmead, Westmead, New South Wales, Australia
5   School of Women's and Children's Health, University of Sydney, New South Wales, Australia
› Author Affiliations
Further Information

Publication History

26 July 2018

05 September 2018

Publication Date:
29 October 2018 (online)

Abstract

We report a preterm (35 4/7 weeks) male neonate with Down's syndrome (DS) diagnosed with isolated pericardial effusion (PE) at 20 weeks of gestation. He was born by precipitous delivery, needed no resuscitation and presented within first 24 hours of life with respiratory distress, anemia due to feto-maternal bleed, hypotension, hepatomegaly, and coagulopathy. Postnatal echocardiography confirmed a 5 mm rim of PE without tamponade, normal cardiac structure, and function. He was stabilized with ventilation, packed red cell, fresh frozen plasma, inotropes (dopamine, dobutamine, and adrenaline), and steroid (hydrocortisone). Subsequent evaluation confirmed hypothyroidism, transient myeloproliferative disorder (TMD), hepatic failure due to fibrosis/cirrhosis with portal hypertension, and steroid sensitive hypotension on two occasions possibly due to adrenal insufficiency. PE completely resolved over 2 weeks. In view of progressively worsening liver failure with ascites and portal hypertension, the family opted for palliation. Literature review has been discussed regarding perinatal onset of PE in DS.

Ethical Approval

The article is a case report and does not contain any studies with human or animal participants performed by any of the authors. The scientific report does not reveal patient identity anywhere.


 
  • References

  • 1 Hirashima C, Eguchi Y, Kohmura Y, Minakami H, Sato I. Isolated pericardial effusion and transient abnormal myelopoiesis in a fetus with Down's syndrome. J Obstet Gynaecol Res 2000; 26 (04) 303-306
  • 2 Smrcek JM, Baschat AA, Germer U, Gloeckner-Hofmann K, Gembruch U. Fetal hydrops and hepatosplenomegaly in the second half of pregnancy: a sign of myeloproliferative disorder in fetuses with trisomy 21. Ultrasound Obstet Gynecol 2001; 17 (05) 403-409
  • 3 Dinleyici EC, Ucar B, Kilic Z, Dogruel N, Yarar C. Pericardial effusion due to hypothyroidism in Down syndrome: report of four cases. Neuroendocrinol Lett 2007; 28 (02) 141-144
  • 4 Shenoy RD, Bhat KG, Kamath N, Kumble Y. Transient myeloproliferative disorder and eosinophilic pericardial effusion in a down syndrome neonate. Pediatr Hematol Oncol 2008; 25 (02) 123-129
  • 5 Zwaan CM, Reinhardt D, Hitzler J, Vyas P. Acute leukemias in children with Down syndrome. Hematol Oncol Clin North Am 2010; 24 (01) 19-34
  • 6 Shitara Y, Takahashi N, Aoki Y. , et al. Cytokine profiles in pericardial effusion in a Down syndrome infant with transient abnormal myelopoiesis. Tohoku J Exp Med 2017; 241 (02) 149-153
  • 7 Buyukkale G, Cetinkaya M, Akcay A. , et al. Transient leukemia-associated pericardial tamponade in a neonate with Down syndrome. Pediatr Hematol Oncol 2012; 29 (04) 386-388
  • 8 Strobelt N, Ghidini A, Locatelli A, Vergani P, Mariani S, Biondi A. Intrauterine diagnosis and management of transient myeloproliferative disorder. Am J Perinatol 1995; 12 (02) 132-134
  • 9 Azancot A, Diehl R, Dorgeret S. , et al. Isolated pericardial effusion in the human fetus: a report of three cases. Prenat Diagn 2003; 23 (03) 193-197
  • 10 Rougemont AL, Makrythanasis P, Finci V. , et al. Myeloid proliferation without GATA1 mutations in a fetus with Down syndrome presenting in utero as a pericardial effusion. Pediatr Dev Pathol 2010; 13 (05) 423-426
  • 11 Al-Kasim F, Doyle JJ, Massey GV, Weinstein HJ, Zipursky A. ; Pediatric Oncology Group. Incidence and treatment of potentially lethal diseases in transient leukemia of Down syndrome: Pediatric Oncology Group Study. J Pediatr Hematol Oncol 2002; 24 (01) 9-13
  • 12 Oh LZ, Ng PM, Quah TC. A dysmorphic newborn with petechiae and a ‘Big Heart’. BMJ Case Rep 2014; 2014: bcr2014204195
  • 13 Kusanagi Y, Ochi H, Matsubara K, Ito M. Hypereosinophilic syndrome in a trisomy 21 fetus. Obstet Gynecol 1998; 92 (4, Pt 2): 701-702
  • 14 Concolino D, Pascuzzi A, Pietragalla E, Lia R, Canepa S, Strisciuglio P. High prevalence of isolated pericardial effusion in Down syndrome. Am J Med Genet A 2005; 132A (03) 331-332
  • 15 Bhardwaj P, Sharma VK, Bhardwaj R. Hypothyroidism presenting as cardiac tamponade in Down syndrome. J Indian Med Assoc 2011; 109 (01) 47-48
  • 16 Werder EA, Torresani T, Navratil F. , et al. Pericardial effusion as a sign of acquired hypothyroidism in children with Down syndrome. Eur J Pediatr 1993; 152 (05) 397-398
  • 17 Sharland G, Lockhart S. Isolated pericardial effusion: an indication for fetal karyotyping?. Ultrasound Obstet Gynecol 1995; 6 (01) 29-32
  • 18 Bruwier A, Chantrain CF. Hematological disorders and leukemia in children with Down syndrome. Eur J Pediatr 2012; 171 (09) 1301-1307
  • 19 Shiozawa Y, Fujita H, Fujimura J. , et al. A fetal case of transient abnormal myelopoiesis with severe liver failure in Down syndrome: prognostic value of serum markers. Pediatr Hematol Oncol 2004; 21 (03) 273-278