Sacrococcygeal teratoma in a female newborn with clinical features of trisomy 13: a case report from Central Africa

Abstract

Toni Kasole Lubala,1,2 Olivier Mukuku,1 Mick Pongombo Shongo,1,2 Augustin Mulangu Mutombo,1 Nina Lubala,1 Oscar Numbi Luboya,1 Prosper Lukusa-Tshilobo3 1Department of Paediatrics, Faculty of Medicine, 2Center for Human Genetics, Faculty of Medicine, University of Lubumbashi, Lubumbashi, 3Department of Paediatrics and Centre for Human Genetics, University Hospital, University of Kinshasa, Kinshasa, Democratic Republic of Congo Introduction: The objective of this report is to describe the first patient presenting clinical features of trisomy 13 in association with a sacrococcygeal teratoma. Case presentation: We present the case of a Congolese female infant born with bilateral cleft lip and palate, hypotelorism, microcephaly, and capillary hemangioma on her face. She presented with a large sacrococcygeal mass (15.0 cm ×12.0 cm ×5.0 cm) with a cystic consistency and a positive transillumination. Conclusion: This observation suggests that overexpression of certain genes on chromosome 13 may lead to tumor formation from remnant cells of Hensen’s node. Keywords: Patau syndrome, Hensens’s Node, sacrococcygeal, teratoma  

Keywords

• Teratoma
• Sacrococcygeal
• Trisomy 13
• Lubumbashi