Bilateral pial synangiosis in a child with PHACE syndrome

Abstract

<jats:p>The acronym PHACE has been used to denote a constellation of abnormalities: posterior fossa anomalies, facial hemangiomas, arterial anomalies, cardiac anomalies, and eye abnormalities. Approximately 30% of patients with large facial hemangiomas have PHACE syndrome, with the vast majority having intracranial arteriopathy. Few reports characterize neurological deterioration from this intracranial arteriopathy, and even fewer report successful treatment thereof. The authors report on a case of a child with PHACE syndrome who presented with an ischemic stroke from a progressive intracranial arteriopathy and describe her successful treatment with bilateral pial synangiosis.</jats:p> <jats:p>An 8-month old girl diagnosed with PHACE syndrome was found to have bilateral internal carotid artery stenosis. Although initially asymptomatic, a few months after diagnosis she suffered a right frontal and parietal stroke. MRI and cerebral angiography investigations demonstrated progressive intracranial arterial stenosis and occlusion. The patient then underwent indirect cerebral revascularization surgery. At 2-year follow-up, she exhibited clinical improvement with persistent speech and motor developmental delay. Follow-up MRI and cerebral angiography showed no new ischemic events and robust extensive vascular collateralization from surgery.</jats:p> <jats:p>PHACE syndrome is an uncommon disease, and affected patients often have cerebral arteriopathy. Although the underlying natural history of cerebral arteriopathy in PHACE remains unclear, cerebral revascularization may represent a potential therapy for symptomatic patients.</jats:p>

Management of Stroke in Neonates and Children: A Scientific Statement From the American Heart Association/American Stroke Association

“…183 Down syndrome (with a 26-fold increased likelihood of moyamoya), neurofibromatosis type I (with ≈2%-5% prevalence of moyamoya), SCD, and other associated conditions are summarized in Table 2. 177,181,[184][185][186][187][188][189][190][191][192][193][194][195][196][197][198][199] If moyamoya is identified on MRI, then DSA should be strongly considered because this modality has increased diagnostic sensitivity for moyamoya compared with MRI (including the ability to better differentiate vasculitis) and offers important data germane to preoperative planning. Specifically, transdural collaterals visualized on DSA are critical biomarkers of disease that can assess angiogenic potential (particularly in combination with proteomic assays), that can predict 1-year radiographic outcomes from surgery, and, when incorporated into surgical planning, have been demonstrated to reduce…”

Current perspectives on the optimal management of infantile hemangioma

“…For example, cardiac surgery may be indicated if there is coarctation of the aorta 42 or a encephaloduroarteriosynangiosis, where the superficial temporal artery is grafted directly onto the pia mater of the CNS, which may be indicated to provide adequate perfusion to the brain. 38 , 43 …”

Global research trends of infantile hemangioma: A bibliometric and visualization analysis from 2000 to 2022

“…Roughly 30 % of large facial IHs are associated with PHACE syndrome, which includes intracranial arteriopathy [ 18 , 19 ]. The rupture of such hemangiomas in the central nervous system can lead to challenging situations, such as quadriplegia and stroke, which must be taken seriously [ 20 , 21 ].…”