A case of PHACE syndrome with growth hormone deficiency and abnormal thyroid functions

• Published in: Journal of Pediatric Endocrinology & Metabolism Vol. 32; no. 11; pp. 1283 - 1286
• Main Authors: Bongsebandhu-phubhakdi, Chansuda, Tempark, Therdpong, Jakchairoongruang, Ketsuda, Supornsilpchai, Vichit
• Format: Journal Article
• Language: English
• Published: Germany De Gruyter 26.11.2019; Walter de Gruyter GmbH
• Subjects: Aortic Coarctation - etiology; Aortic Coarctation - pathology; Child; Dwarfism, Pituitary - complications; endocrine; Eye Abnormalities - etiology; Eye Abnormalities - pathology; Female; growth hormone deficiency; Growth hormones; Human Growth Hormone - deficiency; Humans; hypothyroidism; Neurocutaneous Syndromes - etiology; Neurocutaneous Syndromes - pathology; PHACE; Physical growth; Prognosis; Thyroid Function Tests; Thyroid gland; Thyroid Gland - abnormalities; PHACE; hypothyroidism; growth hormone deficiency; endocrine
• ISSN: 0334-018X; 2191-0251
• DOI: 10.1515/jpem-2019-0078

Background PHACE syndrome is a rare vascular neurocutaneous disorder characterized by posterior fossa anomalies, hemangioma, arterial anomalies, cardiac anomalies and eye anomalies. Growth hormone deficiency (GHD) has been infrequently described. Case presentation We report a girl with PHACE syndrome. Endocrine abnormalities including abnormal thyroid functions and GHD have recently been described in similar cases. Conclusions This case suggests the necessity to screen pituitary functions in all patients with PHACE syndrome with abnormal hypothalamus and pituitary (HP) anatomy. Likewise, growth parameters and thyroid function test (TFT) should be monitored in all patients with PHACE syndrome at regular intervals.