NDLI: 11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case report

Content Provider	Springer Nature : BioMed Central
Author	Ichimiya, Yuko Wada, Yuka Kunishima, Shinji Tsukamoto, Keiko Kosaki, Rika Sago, Haruhiko Ishiguro, Akira Ito, Yushi
Abstract	Background 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. Case presentation 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. Conclusions 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.
Related Links	https://jmedicalcasereports.biomedcentral.com/counter/pdf/10.1186/s13256-017-1535-5.pdf
Ending Page	4
Page Count	4
Starting Page	1
File Format	HTM / HTML
ISSN	17521947
DOI	10.1186/s13256-017-1535-5
Journal	Journal of Medical Case Reports
Issue Number	1
Volume Number	12
Language	English
Publisher	BioMed Central
Publisher Date	2018-01-08
Access Restriction	Open
Subject Keyword	Medicine Public Health General Practice Family Medicine Primary Care Medicine Surgical Oncology Internal Medicine FLI1 Jacobsen syndrome Paris-Trousseau syndrome Thrombocytopenia Prenatal diagnosis Medicine/Public Health
Content Type	Text
Resource Type	Case study
Subject	Medicine
Journal Impact Factor	0.9/2023

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