Cleidocranial dysplasia complicated by intraparenchymal hemorrhage in the neonatal period

DOI

Bibliographic Information

Other Title
  • 新生児期に脳実質内出血を合併した鎖骨頭蓋異形成症

Search this article

Abstract

<p> We report an intraparenchymal hemorrhage observed in a neonate with Cleidocranial dysplasia（CCD）born by vaginal delivery. The patient was a male neonate born at 38 weeks of gestation. Signs of extensive cranial and clavicle dysostosis were found on Day 2 after birth. A left occipital lobe subcortical hemorrhage was observed on both head MRI and CT. Family history revealed that his father had clavicle hypoplasia, and therefore, we diagnosed the neonate with CCD complicated by intraparenchymal hemorrhage. Blood tests did not show hemorrhagic diathesis, and genetic analysis on the neonate and his father identified a mutation in the RUNX2 gene in both. On Day 11 after birth, a decrease in the subcortical hemorrhage was observed on head CT, and no neurological abnormalities were observed during the neonatal pereiod. However, at 5 months, he developed West syndrome. At currently 3 years old, his seizures are controlled but mild psychomotor retardation is observed.</p><p> We consider that birth injury was the cause of the intraparenchymal hemorrhage. In patients with a prenatal diagnosis of CCD based on family history and antenatal imaging, avoiding vaginal delivery may reduce the risk of perinatal encephalopathy.</p>

Journal

Keywords

Details 詳細情報について

Report a problem

Back to top