지연대량출혈 머리혈종으로 나타난 c.368T>G 유전변이 신생아 혈우병 B1예

Congenital Hemophilia B, Rare Mutation c.368T>G, Presenting with Delayed Massive Expansion of Non-Traumatic Cephalhematoma

초록

Cephalhematoma is one of the common birth traumas; 0.4% to 2.5% of newborns are reported have cephalhematoma after birth. Most of these lesions improve spontaneously without any medical intervention. Cephalhematoma occurs by the injury of subperiosteal vessels of the skull. In cases related to genetic coagulation factor deficiency, where there were no recruitment of instruments, such as, forceps or vacuums during delivery, only 2% of newborns were diagnosed with cerebral hemorrhage, which are types of intracranial or subgaleal hemorrhage. Here, we have reported the case of newborn with hemophilia B. This patient was born without any issues during vaginal delivery, and was discharged on the 3rd day after birth. Three days later, on the sixth day after birth, the patient was admitted due to neonatal jaundice, anemia and worsened cephalhematoma.

키워드

Hemophilia BNewbornCephalhematoma 서론
제목
지연대량출혈 머리혈종으로 나타난 c.368T>G 유전변이 신생아 혈우병 B1예
제목 (타언어)
Congenital Hemophilia B, Rare Mutation c.368T>G, Presenting with Delayed Massive Expansion of Non-Traumatic Cephalhematoma
저자
안세진조희승
DOI
10.14734/pn.2024.35.2.81
발행일
2024-06
유형
Y
저널명
Perinatology
35
2
페이지
81 ~ 84