A case of Jacobsen Syndrome Presenting with a Huge Cephalhematoma and Thrombocytopenia after Birth

Other Titles
출생 후 커다란 두혈종과 혈소판감소증을 보인 Jacobsen Syndrome 1예
Authors
Juhee ShinGaeun KimRosie LeeNani JungYe Jee ShimJung-Sook Ha
Department
Dept. of Pediatrics (소아청소년학); Dept. of Laboratory Medicine (진단검사의학)
Issue Date
2018
Citation
Clinical Pediatric Hematology-Oncology, Vol.25(1) : 56-60, 2018
ISSN
2233-5250
Abstract
Jacobsen syndrome (JS) is a contiguous gene syndrome resulting from a deletion of chromosome 11q, with various clinical manifestations. A post-term small for gestational age infant was born by normal vaginal delivery without trauma or vacuum extraction. On day 5, right parietotemporal scalp swelling developed, with petechiae on the right cheek and thrombocytopenia (platelets: 63,000/µL). A prominent forehead, wide-set eyes, short and upturned nose were noted. Karyotyping and microarray analysis demonstrated del(11)(q24q25), consistent with Jacobsen syndrome. Brain magnetic resonance imaging (MRI) revealed a huge cephalhematoma. The patient is scheduled to receive periodic evaluations for thrombocytopenia and heart, kidney, abdominal malformations, ophthalmologic and auditory problems. There are lots of newborns with cephalhematoma or petechiae after birth. Not all newborns with these symptoms need evaluations, but if they have these symptoms with suspect features or appearances, we need to go through further evaluations.
Keywords
11q deletion Distal 11q deletion syndrome Jacobsen syndromeParis-Trousseau syndromeThrombocytopenia
URI
http://kumel.medlib.dsmc.or.kr/handle/2015.oak/41030
Appears in Collections:
1. Journal Papers (연구논문) > 1. School of Medicine (의과대학) > Dept. of Pediatrics (소아청소년학)
1. Journal Papers (연구논문) > 1. School of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학)
Keimyung Author(s)
심예지; 하정숙
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