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

被引：10

作者：

Ichimiya Y. ^{[1
,4
,6
]}

Wada Y. ^{[1
,4
]}

Kunishima S. ^{[2
]}

Tsukamoto K. ^{[1
,4
]}

Kosaki R. ^{[3
]}

Sago H. ^{[4
]}

Ishiguro A. ^{[5
]}

Ito Y. ^{[1
,4
]}

机构：

[1] Division of Neonatology, Center of Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo

[2] Department of Advanced Diagnosis, Clinical Research Center, National Hospital Organization, Nagoya Medical Center, Nagoya

[3] Division of Medical Genetics, National Center for Child Health and Development, Tokyo

[4] Center of Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo

[5] Division of Hematology, National Center for Child Health and Development, Tokyo

[6] Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi, Fukuoka

来源：

Journal of Medical Case Reports | / 12卷 / 1期

关键词：

FLI1; Jacobsen syndrome; Paris-Trousseau syndrome; Prenatal diagnosis; Thrombocytopenia;

D O I：

10.1186/s13256-017-1535-5

中图分类号：

学科分类号：

摘要：

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. © The Author(s). 2018

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