Jacobsen Syndrome with White Matter Changes

Abstract

Jacobsen syndrome is a rare genetic disorder caused by partial deletions in the long arm of chromosome 11. The deletion size ranges from 7 to 20 Mb, with a breakpoint at 11q23.3, in 70% to 80% of cases. Affected individuals can express a wide variety of phenotypes, including delayed physical growth and psychomotor development, dysmorphic features, congenital heart malformations, and thrombocytopenia [1,2]. Few reports have described white matter abnormalities in Jacobsen syndrome. Herein, we describe a case of a boy diagnosed with Jacobsen syndrome with white matter abnormalities on brain magnetic resonance imaging (MRI). This study was reviewed and approved by the Institutional Review Board of the Gachon University Gil Hospital (GFIRB 2020-458). Due to its retrospective nature, the study was exempt from requiring informed consent from the participants.A 6-day-old neonate was brought to our institution because of jaundice. He was born at 37 weeks of gestation without perinatal asphyxia. His birth weight was 2,980 g (22nd percentile), height was 46 cm (2nd percentile), and head circumference was 33 cm (13th percentile). Physical examination revealed a cephalohematoma. Laboratory tests showed hyperbilirubinemia, hypothyroidism, neutropenia, and thrombocytopenia. The total bilirubin level was 25.5 mg/ dL. The white blood cell count was 2,070/μL, hemoglobin was 10.7 g/dL, and platelet count