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Permanent Cerebral Vessel Occlusion via Double Ligature and Transection
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Postmortem vascular pathology in PHACES syndrome: a case report.

Lauren Chad1, William Dubinski, Cynthia Hawkins

  • 1Department of Paediatrics, The University of Toronto, Toronto, Ontario, Canada. lauren.chad@utoronto.ca

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
|August 21, 2012
PubMed
Summary

PHACES syndrome, a rare condition, involves arteriopathy, according to a case study of a 5-year-old girl. Autopsy findings support this vascular defect as the primary issue in PHACES syndrome.

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Area of Science:

  • Pediatric Pathology
  • Vascular Malformations
  • Genetics and Rare Diseases

Background:

  • PHACES syndrome is a complex congenital disorder characterized by multiple abnormalities.
  • Its precise etiology remains unclear, posing diagnostic and therapeutic challenges.

Observation:

  • This report details the clinical progression and post-mortem examination of a 5-year-old female diagnosed with PHACES syndrome.
  • The autopsy revealed specific pathological changes contributing to the understanding of the syndrome's pathology.

Findings:

  • The documented pathological alterations strongly suggest a primary arteriopathy as the underlying defect in PHACES syndrome.
  • These findings provide crucial insights into the vascular basis of the condition.

Implications:

  • Understanding PHACES syndrome as an arteriopathy may guide future research into its pathogenesis and treatment.
  • This case contributes to the body of knowledge on rare vascular disorders and their management.