Hypopituitarism in PHACES Association

Abstract

The association consisting of posterior fossal malformations, cervicofacial, hemangiomas, arterial anomalies, cardiac defects, eye anomalies, and sternal clefting, or supraumbilical raphe, refers to the occurrence of congenital structural and vascular anomalies in the presence of a facial hemangioma. We report a patient with this association, growth retardation, and developmental delay who was found to have a partially empty sella turcica, central hypothyroidism, and growth hormone deficiency. Endocrinologic evaluation should be considered in any infant with this association.

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

“…At our institution, our work-up of PHACES syndrome involves magnetic resonance imaging (MRI) of the brain, magnetic resonance angiography (MRA) of the head and neck, echocardiogram or MRA of the chest, and an ophthalmology consult. We also obtain a TSH level as endocrine dysfunction, although uncommon, has been described and carries significant implications on growth and development [3].…”

A case of congenital hypothyroidism in PHACE syndrome

“…Our case was reported as CH due to the absence of the thyroid gland in its own region. PHACE patients seem to be at risk for hypothyroidism (10) . For instance, it has been previously demonstrated that IH can secrete type 3 deiodinase, which can degrade thyroid hormone (11) .…”

PHACES syndrome: A review

“…Endocrinologic work-up should probably be considered in at-risk patients, particularly since systemic medications, such as systemic glucocorticoids [42], may be mistakenly implicated. Any amount of hypothyroidism must be aggressively treated, especially in the first 2 years of life, to avoid potentially devastating neurodevelopmental issues.…”

“…There has also been a case report of hypopituitarism in a child with PHACES [42]. This was associated with deeply seated and partially empty sella turcica resulting in thyroid stimulating hormone and growth hormone insufficiency, with preservation of the adrenocorticotropic axis.…”