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: Marc De Leeuw, Emile Beuls, Philippe Jorens, Paul Parizel, Werner Jacobs
• Journal: Journal of forensic and legal medicine (J Forensic Leg Med) Vol. 20 Issue 5 Pg. 520-1 (Jul 2013) ISSN: 1878-7487 [Electronic] England
• PMID: 23756525 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2013 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

Topics

• Child Abuse (diagnosis)
• Diagnosis, Differential
• Forensic Medicine
• Hematoma, Subdural (etiology)
• Humans
• Infant
• Male
• Microscopy, Electron
• Platelet Function Tests
• Platelet Storage Pool Deficiency (diagnosis)
• Retinal Hemorrhage (etiology)
• Shaken Baby Syndrome (diagnosis)