Affiliations: [a]
Department of Pediatric Gastroenterology, Hepatology and Nutrition, Cleveland Clinic Children’s, Cleveland, OH, USA
| [b] Neonatal Director, Fetal Care Center, Cleveland Clinic Children’s, Cleveland, OH, USA
| [c]
Department of Pediatric Hematology/Oncology/Bone Marrow Transplantation, Cleveland Clinic, Cleveland, OH, USA
| [d] Section Head, Pediatric Radiology, Imaging Institute, Cleveland Clinic, Cleveland, OH, USA
| [e]
Department of Anatomic Pathology, Cleveland Clinic, Cleveland, OH, USA
Correspondence:
[*]
Address for correspondence: Amala J. Alenchery, MD, Department of Pediatric Gastroenterology, Hepatology and Nutrition, Cleveland Clinic Children’s, 9500 Euclid Avenue, R3, Cleveland, Ohio 44195, USA. Tel.: +1 216 445 5555; Fax: +1 216 444 2974; E-mail: alencha@ccf.org.
Abstract: Trisomy 21 (Down Syndrome) may lead to multiple hematological and hepatobiliary manifestations including the development of transient abnormal myelopoiesis. While many cases resolve, transient abnormal myelopoiesis may lead to significant morbidity and mortality in a small percentage of patients. This condition may present a diagnostic challenge for physicians and currently there is only limited data on effective treatments, particularly with low blast percent transient abnormal myelopoiesis. We present a case of a neonate with trisomy 21 and multiple congenital anomalies who consequently developed hepatic failure with evidence of non-cirrhotic portal hypertension likely due to transient abnormal myelopoiesis. This clinical scenario highlights the need for additional evaluation for transient abnormal myelopoiesis associated hepatic disorder and possibly hepatic sinusoidal occlusive syndrome among trisomy 21 neonates particularly with low blast percentage.
