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

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.

One case report of Jacobsen syndrome combine with Paris-Trousseau syndrome / 临床儿科杂志

Objective To investigate the clinical features of a patient diagnosed with Jacobsen syndrome (JBS) and Paris-Trousseau syndrome (PTS) using chromosomal microarray analysis. Method A retrospective analysis including the patients' clinical manifestations, laboratory examination and genetic analysis was carried out and related literature were reviewed. Results A 14 month-old girl with global development retardation was reported. The patient can sit but cannot walk independently. The patient also presented hypsicephaly, ocular hypertelorism, palpebral ptosis, flat nasal bridge, sparse eyebrows, and speech delay. Gesell development scale showed that the patient was global development retarded with a development level of 40 weeks. No o bvious abnormality was found in EEG but the MRI showed cerebral white matter abnormality. This patient was also diagnosed with neonatal thrombocytopenia in other hospital. Genomic CNVs were detected in this girl, and a 15.7Mb loss was found in the 11q23.3q25 region that covers JBS and PTS region. Conclusions Patient diagnosed with JBS and PTS often present with craniofacial abnormalities, cerebral white matter abnormality and neonatal thrombocytopenia. Chromosomal microarray analysis can help diagnosis.