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[Infantile haemangioma and intracranial vascular malformation]

Lise Beier Ommen1, Jon Helgestad, Lise Gammelgaard

  • 1Narvik Sykehus, Kirurgisk Afdeling, Narvik. lisebeierommen@gmail.com

Ugeskrift for Laeger
|September 18, 2009
PubMed

Insights

A two-week-old infant with facial hemangiomas and a rare vascular condition, PHACES syndrome, experienced eye opening after successful steroid treatment. The infant showed normal development despite temporary growth stagnation during therapy.

Area of Science:

  • Pediatric Neurology
  • Vascular Malformations
  • Genetics and Rare Diseases

Background:

  • PHACES syndrome is a rare condition characterized by multiple congenital anomalies, primarily involving the face, brain, heart, and arteries.
  • Early diagnosis and intervention are crucial for managing the potential complications associated with PHACES syndrome.

Observation:

  • A two-week-old female infant presented with a large upper eyelid hemangioma obstructing vision.
  • Cerebral MRI with angiography revealed additional facial hemangiomas and agenesis of the left internal carotid artery.

Findings:

  • The patient was diagnosed with PHACES syndrome based on the presence of facial hemangiomas and intracranial vascular malformation.
  • Treatment with oral prednisolone led to significant regression of the hemangioma, restoring the infant's ability to open her eye.
  • The infant completed 29 weeks of treatment with gradual tapering of prednisolone, experiencing normal development aside from transient growth stagnation.

Implications:

  • This case highlights the effectiveness of oral prednisolone in managing symptomatic infantile hemangiomas associated with PHACES syndrome.
  • Prompt diagnosis and treatment can prevent visual impairment and other potential complications of PHACES syndrome.
  • Further research into the long-term outcomes and optimal management strategies for PHACES syndrome is warranted.

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