WMJ : official publication of the State Medical Society of Wisconsin · 2019
Progressive Familial Intrahepatic Cholestasis Presenting With an Intracranial Bleed and Mimicking Abusive Head Trauma.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Haney Suzanne, Harper James, Truemper Edward
Аннотация
INTRODUCTION: Abusive head trauma is a serious, often fatal condition; early identification is important to prevent repeat episodes and/or injuries to siblings. This case emphasizes the importance of a thorough workup in cases of suspected abusive head trauma.
CASE PRESENTATION: A 4-month-old infant was found to have a severe subdural hematoma requiring surgical evacuation. Initially, abusive head trauma was considered as a diagnosis. Testing revealed vitamin K deficiency bleeding (VKDB) despite prophylactic vitamin K administration at birth. The infant eventually was diagnosed with progressive familial Iintrahepatic cholestasis type 2 (PFIC2).
DISCUSSION: Although VKDB is a known cause of infantile intracranial hemorrhage, PFIC has not been previously reported to cause severe VKDB resulting in an intracranial hemorrhage.
CONCLUSION: Our case illustrates the importance of a comprehensive systematic approach to investigate causes other than abusive head injury when intracranial bleeding is a significant finding.
CASE PRESENTATION: A 4-month-old infant was found to have a severe subdural hematoma requiring surgical evacuation. Initially, abusive head trauma was considered as a diagnosis. Testing revealed vitamin K deficiency bleeding (VKDB) despite prophylactic vitamin K administration at birth. The infant eventually was diagnosed with progressive familial Iintrahepatic cholestasis type 2 (PFIC2).
DISCUSSION: Although VKDB is a known cause of infantile intracranial hemorrhage, PFIC has not been previously reported to cause severe VKDB resulting in an intracranial hemorrhage.
CONCLUSION: Our case illustrates the importance of a comprehensive systematic approach to investigate causes other than abusive head injury when intracranial bleeding is a significant finding.