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01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Journal of Medical Case Reports 1/2018

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

Zeitschrift:
Journal of Medical Case Reports > Ausgabe 1/2018
Autoren:
Yuko Ichimiya, Yuka Wada, Shinji Kunishima, Keiko Tsukamoto, Rika Kosaki, Haruhiko Sago, Akira Ishiguro, Yushi Ito
Wichtige Hinweise

Electronic supplementary material

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.

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.

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Zusatzmaterial
Additional file 1: Cases of 11q23 deletion syndrome diagnosed prenatally and delivered. (DOCX 34 kb)
13256_2017_1535_MOESM1_ESM.docx
Literatur
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