Fatal Exsanguination Following Rupture of an Iliac Artery Aneurysm in an Infant With Menkes Disease
Menkes disease (MD) usually presents in infancy with respiratory and neurological complications. Severe isolated vasculo-connective tissue involvement in infancy is rare, and hence the precise and timely diagnosis is difficult. We report a case of an 8-week-old male infant who succumbed to acute, se...
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Veröffentlicht in: | Pediatric and developmental pathology 2019-10, Vol.22 (5), p.486-491 |
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Sprache: | eng |
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Zusammenfassung: | Menkes disease (MD) usually presents in infancy with respiratory and neurological
complications. Severe isolated vasculo-connective tissue involvement in infancy
is rare, and hence the precise and timely diagnosis is difficult. We report a
case of an 8-week-old male infant who succumbed to acute, severe exsanguination,
and hemorrhagic shock secondary to a large retroperitoneal hematoma due to
rupture of a right iliac artery aneurysm. Perimortem musculoskeletal findings
raised suspicion of nonaccidental injury. However, postmortem review of facial
traits raised the suspicion of MD. MD was subsequently confirmed on genetic
testing. Child health clinicians must remain aware of MD as a rare cause of
infant vasculopathy or atypical skeletal abnormalities. |
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ISSN: | 1093-5266 1615-5742 |
DOI: | 10.1177/1093526619841152 |