Truncus arteriosus as presentation of PHACE syndrome

PHACE syndrome is a rare neurocutaneous syndrome that describes the association of large segmental infantile haemangioma involving the head and neck, along with other systemic anomalies. Complex congenital heart disease has rarely been reported in this syndrome. We present a report of a patient with PHACE syndrome and truncus arteriosus.

Scepter-Mini Balloon Assisted Coil Embolization of an Intracranial Arterial Aneurysm in a Child with PHACE Syndrome via a Persistent Trigeminal Artery

Cerebral vascular malformations constitute one of the key abnormalities in children with PHACE syndrome, which is characterized by Plaque like cutaneous hemangiomas, Posterior fossa abnormalities, arterial Cerebrovascular and Eye abnormalities, with or without Sternal clefts (PHACES when sternal clefts are present), and associated midline anomalies. Both moyamoya arteriopathy and intracranial aneurysms have been reported in children with this syndrome. Herein, we report the successful treatment of a growing left posterior-communicating artery aneurysm arising from an aberrant left internal carotid artery (LICA) with balloon assisted coiling (BAC) in a child with PHACE syndrome. We circumvented the limitations posed by the narrow caliber of the proximal LICA, by successfully navigating a coiling microcatheter from the basilar artery into the LICA <i>via</i> a persistent trigeminal artery. BAC was then achieved using a Scepter Mini balloon microcatheter for aneurysm neck remodelling.

PHACE syndrome with parotid hemangiomas: a unique case report

Background PHACE syndrome is a congenital disorder in infants characterized by the presence of large hemangiomas in the cervicofacial region along with congenital anomalies of the cardiovascular system, brain, and eyes. PHACE syndrome is an extremely rare condition, and PHACE syndrome with parotid hemangiomas has never been reported in the medical literature. Case presentation A 3-month-old female infant presented with cervicofacial plaques that later involved the left eyelids. The plaques blanched on application of pressure and were diagnosed to be hemangiomas. MRI and MRA studies of the brain showed extensive vascular malformations, agenesis of the left internal carotid artery, and hemangiomas in the parotid glands. A biopsy of the parotid glands confirmed the parotid hemangiomas. Bilateral cataracts and subclavian artery with an aberrant origin were also found. On the basis of the hemangiomas and the arterial, cardiovascular, and ocular abnormalities, PHACE syndrome was diagnosed. A multi-disciplinary treatment approach was begun, but the infant died 20 days after presentation to the hospital. Conclusions PHACE syndrome is an extremely rare condition that has only been described three hundred times in medical literature. It is usually associated with extensive structural, arterial, ocular, and cutaneous anomalies. However, PHACE syndrome with parotid hemangiomas has never been reported in the medical literature. Hemangiomas are the main diagnostic feature and the most common lesion of this disease. This strong association between PHACE syndrome and hemangiomas suggests the parotid hemangiomas seen in our case to be a new addition to the broad spectrum of anomalies associated with PHACE syndrome.