PHACE Syndrome Presenting With Retinal Degeneration, Cortical Dysplasia, Microphthalmia, and Atrial Septal Defect in a South Asian Boy

PHACE syndrome is a rare disorder of vasculogenesis that occurs during the first trimester of pregnancy. The disorder commonly presents with posterior fossa brain anomalies and coarctation of aorta/arterial anomalies and is predominantly seen in female patients. Herein, we report a male child with PHACE syndrome who had several less common features such as cortical dysplasia, retinal degeneration, and microphthalmia. The diagnosis of PHACE syndrome was confirmed based on revised diagnostic criteria and by the presence of one major criterion and two minor criteria in addition to >5 cm haemangioma. Further, the reported child had atrial septal defect as the only cardiac abnormality, and this has been rarely described in patients with PHACE syndrome.