title: Delta-storage pool disease as a mimic of abusive head trauma in a 7-month-old baby: a case report.
abstract: A seven-month-old baby was admitted to a hospital emergency department after collapsing suddenly while staying with his nanny. The baby displayed classic symptoms of shaken baby syndrome, including subdural haemorrhage, cytotoxic cerebral oedema, and bilateral retinal hemorrhages. Child protection services were informed, but both the parents and the nanny denied any involvement. In the subsequent weeks, the baby developed three other episodes of new subdural bleeding and a medico-legal investigation was started into the origin of the repeated subdural bleeding. Eventually, platelet aggregation tests and electron microscopy diagnosed a delta-storage pool disease; that is, a haemostatic disorder involving dense granules of the platelets. Initial minor blunt trauma may have resulted in subdural bleeding, while subsequent retinal haemorrhage could have been facilitated by the underlying haemostatic disorder. Delta-storage pool disease should be considered as a possible mimic of abusive head trauma similar to other rare conditions such as Menkes disease and type 1 glutaric aciduria.
authors.affiliation: Department of Forensic Medicine and Pathology, University Hospital Antwerp, Wilrijkstraat 10, B-2650 Edegem, Belgium.
authors.forename: Marc
authors.initials: M
authors.lastname: De Leeuw
authors.forename: Emile
authors.initials: E
authors.lastname: Beuls
authors.forename: Philippe
authors.initials: P
authors.lastname: Jorens
authors.forename: Paul
authors.initials: P
authors.lastname: Parizel
authors.forename: Werner
authors.initials: W
authors.lastname: Jacobs
mesh_terms: D002649:Child Abuse / Q000175:diagnosis; D003937:Diagnosis, Differential; D005554:Forensic Medicine; D006408:Hematoma, Subdural / Q000209:etiology; D006801:Humans; D007223:Infant; D008297:Male; D008854:Microscopy, Electron; D010979:Platelet Function Tests; D010981:Platelet Storage Pool Deficiency / Q000175:diagnosis*; D012166:Retinal Hemorrhage / Q000209:etiology; D038642:Shaken Baby Syndrome / Q000175:diagnosis