An Unusual Case of Severe Persistent Neonatal Thrombocytopenia in an Extremely Low Birth Weight, Extreme Preterm Neonate

Overview

Journal Glob Pediatr Health

Specialty Pediatrics

Date 2021 Aug 20

PMID 34414253

Authors

Mobin Paul

Ananthen Killikulangara Sadanandan

Latha Abraham

Sophy Madany Pathrose

Dasary Varghese

Affiliations

Soon will be listed here.

Abstract

Neonatal thrombocytopenia is a common hematological problem but refractory thrombocytopenia is very rare in neonates. A systematic and diligent workup will result in arriving at the proper diagnosis and providing accurate management in rare causes of neonatal thrombocytopenia. We report a case of severe refractory thrombocytopenia in an extremely low birth weight (ELBW)/extreme preterm baby who presented with early onset severe thrombocytopenia associated with anemia and required multiple platelet transfusions. After ruling out COVID-19 infection, sepsis and neonatal alloimmune thrombocytopenia (NAIT), the cause for severe refractory thrombocytopenia was diagnosed as Type II congenital amegakaryocytic thrombocytopenia (CAMT) by bone marrow examination and MPL gene mutation studies.

References

Ballmaier M, Germeshausen M, Schulze H, Cherkaoui K, Lang S, Gaudig A . c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. Blood. 2001; 97(1):139-46. DOI: 10.1182/blood.v97.1.139. View

Ballmaier M, Germeshausen M . Advances in the understanding of congenital amegakaryocytic thrombocytopenia. Br J Haematol. 2009; 146(1):3-16. DOI: 10.1111/j.1365-2141.2009.07706.x. View

Roberts I, Stanworth S, Murray N . Thrombocytopenia in the neonate. Blood Rev. 2008; 22(4):173-86. DOI: 10.1016/j.blre.2008.03.004. View

Lackner A, Basu O, Bierings M, Lassay L, Schaefer U, Revesz T . Haematopoietic stem cell transplantation for amegakaryocytic thrombocytopenia. Br J Haematol. 2000; 109(4):773-5. DOI: 10.1046/j.1365-2141.2000.02099.x. View

Ihara K, Ishii E, Eguchi M, Takada H, Suminoe A, GOOD R . Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia. Proc Natl Acad Sci U S A. 1999; 96(6):3132-6. PMC: 15907. DOI: 10.1073/pnas.96.6.3132. View

Christensen R, Henry E, Wiedmeier S, Stoddard R, Sola-Visner M, Lambert D . Thrombocytopenia among extremely low birth weight neonates: data from a multihospital healthcare system. J Perinatol. 2006; 26(6):348-53. DOI: 10.1038/sj.jp.7211509. View

Berthet F, Caduff R, Schaad U, Roten H, Tuchschmid P, Boltshauser E . A syndrome of primary combined immunodeficiency with microcephaly, cerebellar hypoplasia, growth failure and progressive pancytopenia. Eur J Pediatr. 1994; 153(5):333-8. DOI: 10.1007/BF01956413. View

Winkelhorst D, de Vos T, Kamphuis M, Porcelijn L, Lopriore E, Oepkes D . HIP (HPA-screening in pregnancy) study: protocol of a nationwide, prospective and observational study to assess incidence and natural history of fetal/neonatal alloimmune thrombocytopenia and identifying pregnancies at risk. BMJ Open. 2020; 10(7):e034071. PMC: 7375633. DOI: 10.1136/bmjopen-2019-034071. View

van den Oudenrijn S, Bruin M, Folman C, Peters M, Faulkner L, de Haas M . Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia. Br J Haematol. 2000; 110(2):441-8. DOI: 10.1046/j.1365-2141.2000.02175.x. View

10.

Woods G, Bajwa R, Rose M . Reduced intensity transplantation for congenital amegakaryocytic thrombocytopenia: report of a case and review of the literature. Pediatr Transplant. 2013; 18(1):E31-4. DOI: 10.1111/petr.12175. View

11.

Mehta P, Locatelli F, Stary J, Smith F . Bone marrow transplantation for inherited bone marrow failure syndromes. Pediatr Clin North Am. 2010; 57(1):147-70. DOI: 10.1016/j.pcl.2010.01.002. View

12.

Tijssen M, Di Summa F, van den Oudenrijn S, Zwaginga J, van der Schoot C, Voermans C . Functional analysis of single amino-acid mutations in the thrombopoietin-receptor Mpl underlying congenital amegakaryocytic thrombocytopenia. Br J Haematol. 2008; 141(6):808-13. DOI: 10.1111/j.1365-2141.2008.07139.x. View

13.

Mahadeo K, Tewari P, Parikh S, Driscoll T, Page K, Martin P . Durable engraftment and correction of hematological abnormalities in children with congenital amegakaryocytic thrombocytopenia following myeloablative umbilical cord blood transplantation. Pediatr Transplant. 2015; 19(7):753-7. DOI: 10.1111/petr.12577. View

14.

CASTLE V, Andrew M, Kelton J, Giron D, Johnston M, Carter C . Frequency and mechanism of neonatal thrombocytopenia. J Pediatr. 1986; 108(5 Pt 1):749-55. DOI: 10.1016/s0022-3476(86)81059-9. View

15.

Sainio S, Jarvenpaa A, Renlund M, Riikonen S, Teramo K, Kekomaki R . Thrombocytopenia in term infants: a population-based study. Obstet Gynecol. 2000; 95(3):441-6. DOI: 10.1016/s0029-7844(99)00543-8. View

16.

MacMillan M, Davies S, Wagner J, Ramsay N . Engraftment of unrelated donor stem cells in children with familial amegakaryocytic thrombocytopenia. Bone Marrow Transplant. 1998; 21(7):735-7. DOI: 10.1038/sj.bmt.1701147. View

17.

Sola M, Del Vecchio A, Rimsza L . Evaluation and treatment of thrombocytopenia in the neonatal intensive care unit. Clin Perinatol. 2000; 27(3):655-79. DOI: 10.1016/s0095-5108(05)70044-0. View

18.

Sola-Visner M, Saxonhouse M, Brown R . Neonatal thrombocytopenia: what we do and don't know. Early Hum Dev. 2008; 84(8):499-506. DOI: 10.1016/j.earlhumdev.2008.06.004. View

19.

Burrows R, Kelton J . Fetal thrombocytopenia and its relation to maternal thrombocytopenia. N Engl J Med. 1993; 329(20):1463-6. DOI: 10.1056/NEJM199311113292005. View

20.

Rose M, Nicol K, Skeens M, Gross T, Kerlin B . Congenital amegakaryocytic thrombocytopenia: the diagnostic importance of combining pathology with molecular genetics. Pediatr Blood Cancer. 2008; 50(6):1263-5. DOI: 10.1002/pbc.21453. View