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Adult presentation of PHACES syndrome

S S Arora1, B M Plato, R J Sattenberg

  • 1Department of Radiology, University of Louisville, KY, USA.

Interventional Neuroradiology : Journal of Peritherapeutic Neuroradiology, Surgical Procedures and Related Neurosciences
|June 24, 2011
PubMed

Insights

PHACES syndrome, a condition linked to hemangiomas, is often underdiagnosed. This case highlights a rare adult diagnosis of PHACES syndrome presenting with stroke, emphasizing the need for broader awareness.

Area of Science:

  • Pediatric Neurology
  • Medical Genetics
  • Radiology

Background:

  • PHACES syndrome is a complex condition associated with hemangiomas, involving posterior fossa, facial, arterial, cardiovascular, eye, and ventral defects.
  • Underdiagnosis is common due to limited awareness and imaging capabilities.
  • Arterial cerebrovascular abnormalities in PHACES syndrome can lead to stroke, typically in infants.

Observation:

  • A 29-year-old woman with no prior cerebrovascular disease presented with stroke symptoms.
  • The patient was diagnosed with PHACES syndrome, displaying unusual and multiple imaging findings.
  • This case represents a rare late-onset presentation of PHACES syndrome.

Findings:

  • The patient's stroke was attributed to PHACES syndrome-related arterial cerebrovascular abnormalities.
  • Unusual imaging findings were noted, contributing to the diagnostic challenge.
  • The diagnosis in adulthood underscores the syndrome's variable and potentially delayed presentation.

Implications:

  • This case emphasizes the importance of considering PHACES syndrome in adults presenting with stroke, even without a history of cerebrovascular disease.
  • Increased awareness and advanced imaging are crucial for timely diagnosis of PHACES syndrome.
  • Further research into the long-term manifestations and diagnostic criteria for PHACES syndrome is warranted.

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