Clin Pediatr Hematol Oncol.  2018 Apr;25(1):56-60. 10.15264/cpho.2018.25.1.56.

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

• Shin J
• Kim G
• Lee R
• Jung N
• Shim YJ
• Ha JS

• KMID: 2435425
• DOI: http://doi.org/10.15264/cpho.2018.25.1.56

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.

Keyword

Jacobsen syndrome; 11q deletion; Paris-Trousseau syndrome; Thrombocytopenia; Distal 11q deletion syndrome

MeSH Terms

Brain
Cheek
Forehead
Gestational Age
Heart
Humans
Infant
Infant, Newborn
Jacobsen Distal 11q Deletion Syndrome*
Karyotyping
Kidney
Magnetic Resonance Imaging
Microarray Analysis
Nose
Parturition*
Purpura
Scalp
Thrombocytopenia*
Vacuum