The online version of this article (doi:https://doi.org/10.1186/s13256-017-1535-5) contains supplementary material, which is available to authorized users.
11q23 deletion syndrome, also known as Jacobsen syndrome, is characterized by growth retardation, psychomotor retardation, facial dysmorphism, multiple congenital abnormalities, and thrombocytopenia. In 11q23 deletion syndrome, it is often difficult to anticipate the severity of bleeding. We report a neonatal case of 11q23 deletion syndrome with bleeding that was more severe than predicted by the platelet count.
We report a case of 11q23 deletion syndrome in an Asian male newborn with severe bleeding just after birth. The diagnosis of 11q23 deletion syndrome was made prenatally by amniocentesis. An array comparative genomic hybridization analysis revealed a deletion of the 13.0 Mb regions ranging from 11q24.1 to the q terminus encoding FLI1. Our patient was delivered by cesarean section and exhibited skull deformities, facial asymmetry, low-set ears, inguinal hernia, flat feet, and crowded toes. He had a low platelet count (45,000/μL) and a coagulation abnormality with a prothrombin time–international normalized ratio of 1.92 and an activated partial thromboplastin time of 158.6 seconds. Bleeding at the site of a peripheral vessel puncture was more severe than expected with thrombocytopenia. The peripheral blood featured two different sizes of platelets containing large α-granules. As a result, he required eight platelet transfusions and two fresh frozen plasma transfusions within 13 days of birth. Massive bleeding was avoided, and cerebral magnetic resonance imaging indicated the occurrence of only petechial hemorrhage.
Our patient with 11q deletion including FLI1 avoided massive bleeding and serious sequelae because of careful management after prenatal diagnosis. We suggest that prenatal diagnosis and vigilant perinatal care including a cesarean section are warranted for patients with 11q23 deletion syndrome.
Additional file 1: Cases of 11q23 deletion syndrome diagnosed prenatally and delivered. (DOCX 34 kb)13256_2017_1535_MOESM1_ESM.docx
Mattina T, Perrotta CS, Grossfeld P. Jacobsen syndrome. Orphanet J Rare Dis. 2009;7:4–9.
Hart A, Melet F, Grossfeld P, Chien K, Jones C, Tunnacliffe A, Favier R, Bernstein A. Fli-1 is required for murine vascular and megakaryocytic development and is hemizygously deleted in patients with thrombocytopenia. Immunity. 2000;13:167–77.
Favier R, Jondeau K, Boutard P, Grossfeld P, Reinert P, Jones C, et al. Paris-Trousseau syndrome: clinical, hematological, molecular data of ten new cases. Thromb Haemost. 2003;90:893–7. PubMed
Breton-Gorius J, Favier R, Guichard J, Cherif D, Berger R, Debili N, et al. A new congenital dysmegakaryopoietic thrombocytopenia (Paris-Trousseau) associated with giant platelet alpha-granules and chromosome 11 deletion at 11q23. Blood. 1995;85:1805–14. PubMed
Lin SP, Hsu CH, Chern SR, Su JW, Chen YJ, Pan CW, et al. Pure distal 11q deletion without additional genomic imbalances in a female infant with Jacobsen syndrome and a de novo unbalanced reciprocal translocation. Genet Couns. 2012;23:223–9. PubMed
Malia LA, Wolkoff LI, Mnayer L, Tucker JW, Parikh NS. A case report: Jacobsen syndrome complicated by Paris-Trousseau syndrome and Shone’s complex. J Pediatr Hematol Oncol. 2015;37:429–32. CrossRef
Lo JO, Feist CD, Hashima J, Shaffer BL. Jacobsen syndrome detected by noninvasive prenatal testing. Obstet Gyneco. 2015;125:387–9. CrossRef
- 11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case report
- BioMed Central