Subdural hematoma in an infant with alpha-1-antitrypsin deficiency and a rare primary intra-osseous vascular malformation. (June 2018)

• Record Type: Journal Article
• Authors: Vester, M.E.M.; van Rijn, R.R.; Bem, R.A.; Maes, A.; Kubat, B.
• Is Part Of: Journal of forensic radiology and imaging. Volume 13(2017)
• Page Start: 23
• Page End: 26
• Publication Date: 2018-06
• Subjects: Child abuse -- Subdural hematoma -- Alpha 1-antitrypsin deficiency -- Primary intraosseous vascular malformation -- Forensic medicine; A1ATD alpha-1-antitrypsin deficiency -- AHT abusive head trauma -- CT computed tomography -- MRI magnetic resonance imaging -- SDH subdural hematoma; Forensic radiography -- Periodicals; Magnetic resonance imaging -- Periodicals; Diagnostic imaging -- Periodicals; Diagnostic imaging; Forensic radiography; Magnetic resonance imaging; Periodicals; 614.1
• DOI: 10.1016/j.jofri.2018.05.001
• Languages: English
• ISSNs: 2212-4780

Abstract

Highlights: A rare intra-osseous venous malformation can cause a fatal subdural hematoma. Intrahepatic alpha-1-antitrypsin polymer accumulation can prolong coagulation times. Alpha-1-antitrypsin deficiency can pose a risk for hemorrhages. Teamwork of clinicians and forensic pathologists is crucial for accurate diagnosis. Abstract: We present a unique case of a four-week-old boy who died of a severe hypoxic encephalopathy due to a subdural hematoma. A week before his demise, a small left sided parieto-occipital subdural hemorrhage was seen on both CT and MRI. On the right side a larger, fronto-parietal subdural hemorrhage was present with a prominently defined protuberance to the right hemisphere, causing a midline shift to the left. Subdural hematomas have a broad differential diagnosis, including abusive head trauma which can have far reaching consequences. In order to diagnose the underlying cause of the subdural hematoma, and subsequently confirm or refute the differential diagnosis, a medicolegal autopsy was ordered. The autopsy revealed a rare primary intraosseous vascular malformation of the skull, at the location of the subdural hematoma. This, in combination with the coagulation disorder due to alpha-1-antitrypsin deficiency, was considered to be the underlying cause of death.