Delta-storage pool disease as a mimic of abusive head trauma in a 7-month-old baby: A case report

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• 作者：Marc De Leeuw ; Emile Beuls ; Philippe Jorens ; Paul Parizel ; Werner Jacobs
• 关键词：Shaken baby syndrome ; Abusive head trauma ; Mimic ; Delta-storage pool disease
• 刊名：Journal of Forensic and Legal Medicine
• 出版年：2013
• 出版时间：July, 2013
• 年：2013
• 卷：20
• 期：5
• 页码：520-521
• 全文大小：154 K

文摘

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.