A case of PHACE syndrome

Abstract

A young girl with PHACE syndrome presented with a posterior fossa malformation, a segmental telangiectatic right facial haemangioma, a novel aortic arch anomaly, a congenital right fourth cranial nerve palsy (not previously described in this syndrome) and Horner's syndrome. Hydrocephalus was limited to the intrauterine period and detection of the cardiovascular anomalies was a direct result of recognition of this syndrome. She has received laser treatment for the haemangioma and is awaiting surgical correction of her cranial nerve palsy.

PHACE Syndrome Associated With Congenital Oculomotor Nerve Palsy

“…Subglottic hemangiomas may occur with features of airway obstruction (Orlow et al, 1997). The lesions in PHACE syndrome are true hemangiomas; however the vascular anomalies generally associated with dysmorphic syndromes are not hemangiomas but vascular malformations (Ross et al, 2005). Our patient had extensive involvement of the face along the trigeminal nerve distribution and the entire arm.…”

“…Dilated fourth ventricle with coexistent hypoplastic cerebellum, the Dandy Walker malformation, has been reported to occur in one third of the cases (Metry et al, 2001). The posterior fossa malformations are usually detected later in life and may be missed on antenatal MRI or neonatal cranial ultrasound (Ross et al, 2005). PHACE syndrome has been described in association with fourth cranial nerve palsy and Horner's syndrome (Ross et al, 2005).…”

“…The posterior fossa malformations are usually detected later in life and may be missed on antenatal MRI or neonatal cranial ultrasound (Ross et al, 2005). PHACE syndrome has been described in association with fourth cranial nerve palsy and Horner's syndrome (Ross et al, 2005). Burrows et al described a case of congenital third nerve palsy with PHACE syndrome associated with an aberrant internal carotid artery and proposed a neuroectodermal defect in early embryogenesis (Burrows et al, 1998).…”

Propranolol-responsive cranial nerve palsies in a patient with PHACES syndrome

“…Three of these patients had associated cerebellar hypoplasia while another patient's oculomotor nerve palsy was associated with an aberrant internal carotid artery. Ross et al described a female patient with PHACES syndrome and a trochlear nerve palsy [16]. This was felt to be due to cerebral dysplasia as she did not have any focal lesion to explain her ophthalmologic findings on imaging.…”

Congenital Hypothyroidism, Cerebellar Atrophy, and the Incomplete Phenotypic Expression of PHACES Syndrome

“…We recently observed a girl presenting with congenital hypothyroidism with an in situ thyroid gland, ventricular septal defect, optic atrophy and no brain anomalies; the clue to the diagnosis was the presence of small and sparse facial haemangiomas. Even if in PHACES syndrome facial haemangiomas are usually large congenital lesion with aggressive growth and invasion of tissues, small facial haemangiomas with no tendency to grow were reported too, as well as cases in which they appear later in infancy [3,5]. One of the cases of lateonset haemangiomas occurred actually in one of the infants suffering also from congenital hypothyroidism [3].We hypothesize, hence, that partial forms without haemangiomas may exist too at the extremity of the malformative spectrum.…”