SPR Unknown #82 -- FINAL

Rekha Mody, MD

Loyola University Medical Center

rekhamody@gmail.com

Maura Ryan, MD

Children's Memorial Hospital

Keywords

1549 PHACES Facial Hemangiomas Ocular hemangiomas Intracranial Vascular Malformations


Publication Date: 2009-08-20

History

Case #1-2 month old male with ocular and facial hemangiomas

Case #2-3 year old female with lip, eye and nose hemangiomas

Findings

Patient 1:

Image 1: Lobulated Intermediate T2/T1 signal intensity lesion involving the left periparotid region, masticator space, suprazygomatic temoporal fossa, and premalar soft tissues

Image 2 and 3: Left orbital lesion-Homogenous T2 SI with areas of low T2 intensity likely flow voids. Surrounds the left globe with a preseptal component. Extension into postseptal extraconal fat.

Image 4-8: No flow related signal within the cervical, petrous, or cavernous right internal carotid artery.

Patient 2:

Image 9 and 10: T1 Post contrast coronal and axial images demonstrate and enhancing left periorbital mass

Image 11 and 12: Complex posterior fossa malformation, posterior fossa cyst communicates with the fourth ventricle.

Diagnosis

Facial Hemangiomas associated with PHACES syndrome

DDx

Differental Diagnosis of Facial Hemangiomas:

Venolymphatic Malformation

Sarcoma

Plexiform Neurofibroma

AVM

Discussion

Hemangiomas are the most common benign tumor of infancy, diagnosed in 4-10% of population. Segmental facial hemangiomas may be part of a more complex syndrome of multiple malformations known as PHACES. This syndrome has a broad definition that is currently undergoing revision, but refers to associated Posterior fossa, Hemangioma, Arterial, Cardiac, Eye, and Sternal

The most commonly affected dermatome in PHACES syndrome is cranial nerve V. Associated structural brain anomalies include Dandy-Walker Malformation, agenesis or hypoplasia of the corpus callosum and the cerebellum. Associated intracranial vessel abnormalities include stenosis, absence, hypoplasia or occlusion of the internal carotid arteries, intracranial aneurysms, and aberrant vasculature course. Coarctation of the aorta is the most common cardiac anomaly. Ocular manifestations include Horner's syndrome and increased retinal vascularity.

There are two phases of evolution of the cutaneous hemangiomas, proliferative and involution. The proliferative phase involves increase in size of soft tissue mass, reddish cutaneous discoloration of lesions, overlying bluish coloration of skin due to draining veins, possible ulceration of lesions, and proptosis of orbital lesions. The involution phase involves spontaneous involution of lesions over several years. Cutaneous lesions are usually not treated unless symptomatic or for cosmetic reasons.

Although the PHACES definition is broad and includes a variety heterogeneous malformations, it is important to recognize that segmental facial ghemangiomas can be associated with other abnormalities.

References

  1. Antaya, RJ MD. Infantile Hemangioma. E Medicine article 3/29/2007.
  2. Chuch, DG MD., Lowe, LH MD. PHACE Syndrome. December 2006 Radiology, 241, 939-942.
  3. Heyer, GL et. Al. The Cerebral Vasculopathy of PHACES Syndrome. Stroke. 2008;39:308-316
  4. Judd, CD, Chapman PR, Koch, B, Shea, CJ. Intracranial Infantile Hemangiomas Associated With PHACE Syndrome. American Journal of Neuroradiology 28:25-29, January 2007
  5. Statdx

12 images