A case of Jacobsen syndrome (Paris-Trousseau syndrome) with del(11)(q23.3) presenting with a huge cephalhematoma and mild thrombocytopenia after birth

A case of Jacobsen syndrome (Paris-Trousseau syndrome) with del(11)(q23.3) presenting with a huge cephalhematoma and mild thrombocytopenia after birth

A case of Jacobsen syndrome (Paris-Trousseau syndrome) with del(11)(q23.3) presenting with a huge cephalhematoma and mild thrombocytopenia after birth

(포스터):
Release Date : 2017. 10. 26(목)
Rosie Lee, Eun Mi Choi, Seok Jin Kang, Ye Jee Shim , Heung Sik Kim
Keimyung University Dongsan Medical Center Pediatrics1
이로지, 최은미, 강석진, 심예지 , 김흥식
계명대학교 동산병원 소아청소년과1

Abstract

A female infant was born at IUP 41+1 wks to a nulliparous woman by normal vaginal delivery. Physical examination at delivery was notable for a birth weight of 2,560 gm, consistent with post term SGA and IUGR. She had no trauma history nor vacuum delivery history but gradually developed a huge cephalhematoma (8 x 7 cm sized) on right parietotemporal area on 5 days after birth. Thrombocytopenia (platelet count 63,000/μL) was checked on initial admission. The coagulation factors and platelet function test were in normal range. She had no family history of coagulation disorder. The infant had wide set eyes, short and upturned nose, slightly triangular face, and camptodactly. Her fourth right toe was thinner than other toes and her third and fourth left fingers bent and won\'t open with little force. Abdomen USG and kidney USG were done and there was no abnormality. Brain USG and MRI was done and MR findings said a huge variable stages of hemorrhage in the Rt parietal bone, suggesting cephalhematoma. We had gone through G-scanning and 11q24 deletion was noted. Finally 46,XX,del(11)(q23.3) was checked at karyotyping, consistent with Jacobsen syndrome. She underwent aspiration for large cephalhematoma and omphalodystrophy was spontaneously done at her day of life 22. Echocardiogram will be done for checking probable cardiac problems and we consulted pediatric orthopedics for her skeletal problem. She is now 3 months old and is visiting pediatric rehabilitation clinic regularly. We will observe her development for any signs of delayed milestone. Her platelets remain persistently (platelet count 63,000/μL → 64,000/μL → 100,000/μL → 115,000/μL → 96,000/μL).

Keywords: Jacobsen syndrome, Paris-Trousseau syndrome, 11q deletion