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|LETTER TO EDITOR
|Year : 2021 | Volume
| Issue : 3 | Page : 766-767
PHACE Syndrome Presenting as Transient Ischemic Attack
VC Soumya1, Dileep Ramachandran1, Sabarish Sekar2, Sapna E Sreedharan1, PN Sylaja1
1 Department of Neurology, Comprehensive Stroke Care Program, Sree ChitraTirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India
2 Department of Imaging Sciences and Interventional Radiology, Sree ChitraTirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India
|Date of Submission||02-Aug-2019|
|Date of Decision||06-Aug-2020|
|Date of Acceptance||06-Aug-2020|
|Date of Web Publication||24-Jun-2021|
Dr. P N Sylaja
Professor of Neurology, Comprehensive Stroke Care Program, Sree ChitraTirunal Institute for Medical Sciences and Technology, Trivandrum - 695 011, Kerala
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Soumya V C, Ramachandran D, Sekar S, Sreedharan SE, Sylaja P N. PHACE Syndrome Presenting as Transient Ischemic Attack. Neurol India 2021;69:766-7
A 2-year-old girl born of nonconsanguinous parentage, detected in the antenatal period to have right cerebellar hypoplasia with normal birth and development, was noted to have a hemangioma over right forehead at birth. At two months, she was diagnosed to have glaucoma in the right eye during evaluation for Sturge Weber syndrome More Details. She came to us with a history of sudden onset weakness of right upper limb which completely recovered over 14 h. On admission, she had weakness of right handgrip. She had a 3 × 1.5 cm sized hemangioma over right forehead. Her MRI brain showed right cerebellar and vermian hypoplasia without any evidence of acute infarct. CT angiogram showed hypoplastic right internal carotid artery (ICA) and dysplastic and tortuous right posterior communicating artery (PCom) with a small saccular aneurysm arising from right PCom. Left ICA was narrow in caliber with occlusion of left supraclinoid ICA with M1 segment of middle cerebral artery being reformed by an oblique vessel arising from left P1 segment of posterior cerebral artery. In addition, right carotid canal was absent and there was a persistent left hypoglossal artery. [Figure 1] In view of segmental facial hemangioma with posterior fossa malformations as evidenced by right cerebellar and vermian hypoplasia and dysplastic intracranial cerebral arterial anomalies with saccular aneurysms and persistent embryonic vessels, she satisfied three major and one minor criterion for the diagnosis of PHACE syndrome. Ophthalmology evaluation showed improvement of intraocular pressures of both eyes with normal anterior and posterior segments. Cardiac and audiology evaluation were essentially normal. The etiology of transient ischemic attack is intracranial vasculopathy secondary to PHACE syndrome. She was started on a single antiplatelet.
|Figure 1: (a) CT brain showing right cerebellar hypoplasia (arrow), (b) facial hemangioma over right V1 distribution, (c) absent right carotid canal (black arrow) with normal left carotid canal (white arrow), (d) persistent left hypoglossal artery arising from the bifurcation of left common carotid artery (arrow) and joining left vertebral artery (arrow head), and (e) hypoplastic right vertebral artery (small arrow), dysplastic and tortuous left vertebral artery (big arrow), dysplastic, and ectatic left PCom with aneurysmal dilatation (arrow head)|
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PHACE syndrome is an X-linked dominant disorder with posterior fossa brain malformations, facial hemangiomas, anomalies of cerebral arteries, coarctation of aorta, and other cardiac and eye abnormalities. Complete expression of all clinical features of PHACE syndrome is extremely rare. The case we report is a partial phenotype of PHACE syndrome.
Posterior fossa malformations include cerebellar hypoplasia, arachnoid cysts, cortical dysgenesis, and Dandy–Walker malformation. Intracranial arterial anomalies include persistence of embryonic arteries and agenesis of the carotid or vertebral artery. The ophthalmological anomalies include glaucoma, coloboma, microphthalmia, cryptophthalmia, and optic nerve hypoplasia., Possible mechanisms for the arterial ischemic strokes in PHACE syndrome includes artery-to-artery embolism from a stenotic or dysplastic cerebral artery, ischemia from reduced blood flow, and inadequate cerebral perfusion distal to a flow-limiting arterial stenosis or occlusion with inadequate collateralization or cardioembolism due to structural abnormalities of the heart or proximal aorta., We report this case being a rare presentation of a rare disease.
We would like to acknowledge Mr Krishnakumar N for his technical support in the preparation of the images.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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