P02 A case of congenital panhypopituitarism unmasked by PHACE screening

Abstract

Abstract PHACE syndrome is a rare neurocutaneous disorder referring to the association of segmental infantile haemangiomas (IH) with congenital brain, arterial, cardiac, eye and mid-line anomalies. Endocrinopathies have infrequently been reported with PHACE syndrome. We present a case of congenital panhypopituitarism detected during PHACE workup. A 7-week-old girl presented with a large 4 × 4 cm superficial partially segmental IH on the mid-neck and three small superficial IHs on the scalp and trunk. She was born at term following an uncomplicated pregnancy. She had a 10-day NICU admission for neonatal hypoglycaemia and hypotonia which had fully resolved. Brain MRI showed an ectopic pituitary gland and an absent pituitary stalk. No other vascular, cardiac or intracranial abnormalities were identified. Dynamic pituitary testing demonstrated severe cortisol deficiency (< 3), central hypothyroidism (TSH 1.82, free T4 9.2) and undetectable gonadotrophins (LH < 1.0, FSH < 1.0), consistent with congenital panhypopituitarism. She was commenced on hormone replacement therapy by endocrinology. A dramatic behavioural difference was noted by her parents within days of starting treatment with increased alertness and less daytime somnolence. Of note there had been no medical or developmental concerns prior to her screening. Her heel prick test had not detected hypothyroidism. She was commenced on propranolol 2 mg kg–1 daily for her IH with excellent response and tolerability. Congenital or acquired endocrinopathy can occur in PHACE syndrome both in the presence and absence of pituitary defects. It is important to be aware of endocrine manifestations in these patients.