title: Intraparenchymal hemorrhage in a neonate with cleidocranial dysostosis.
abstract: We present a case of intraparenchymal hemorrhage in a neonate with cleidocranial dysostosis, a skeletal dysplasia that leads to delayed skull ossification. The patient's details are reported, including neuroimaging, photographs of classic dysmorphic features, and genetic testing. After spontaneous vaginal birth, the patient was hypotonic and encephalopathic, with unusually large and boggy fontanelles. No palpable bone overlay his bilateral temporal lobes, and his facial features were multiply dysmorphic. The patient's father exhibited similar facial features and congenital absence of the right clavicle, suggesting cleidocranial dysostosis. Magnetic resonance imaging at age 4 days confirmed a large right temporal lobe intraparenchymal hemorrhage, with extensive subarachnoid hemorrhage overlying both temporal and parietal lobes. A clinical diagnosis of cleidocranial dysostosis was confirmed by testing of the RUNX2 gene, which revealed a novel sequence alteration predicted to be disease-causing. Given that no palpable bone overlay the location of brain hemorrhage, and no other cause for hemorrhage was identified, we attribute the temporal lobe hemorrhage to forces on the skull incurred during normal vaginal delivery in the setting of decreased skull ossification.
authors.affiliation: Department of Neurology, University of California at San Francisco, San Francisco, California, USA. gardnerm2@neuropeds.ucsf.edu
authors.forename: Marisa A
authors.initials: MA
authors.lastname: Gardner
authors.forename: Ben C
authors.initials: BC
authors.lastname: Li
authors.forename: Yvonne W
authors.initials: YW
authors.lastname: Wu
authors.forename: Anne M
authors.initials: AM
authors.lastname: Slavotinek
mesh_terms: D002968:Clavicle / Q000002:abnormalities*; D002973:Cleidocranial Dysplasia / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D020300:Intracranial Hemorrhages / Q000473:pathology*; D008297:Male