PHACE syndrome in a Nigerian newborn: case report and literature review

Abstract

Background: PHACE syndrome is a rare neurocutaneous disorder characterised by large cervicofacial haemangiomas and associated anomalies of the brain, cerebro-vasculature, aorta, heart, and eyes. This case report describes the clinical presentation, management, and literature review of the disorder. Case Report: An hour-old term baby girl presented with a large midline facial haemangioma, microcephaly with absent anterior fontanelle, right microphthalmia, and absent left eye. She also had multiple seizures. There were telangiectatic areas all over the extensor surfaces of both the upper and lower limbs. There was a wide disparity between the heart rate and pulse rate with a radio-radial delay. The respiratory and digestive systems were essentially stable. Transtemporal and trans-posterior fontanelles USS showed hydrocephalus in the lateral ventricles. A brain CT scan showed intracranial defects in the posterior fossa. Based on the haemangioma, posterior fossa brain malformation, cardiovascular, ocular, and signs of cerebrovascular anomalies, the diagnosis of PHACE syndrome was made. A multi-disciplinary treatment approach was implemented. However, the patient died on the 29th day of life. Conclusion: PHACE syndrome is a rare condition that has only been described three hundred times in medical literature. The Multidisciplinary approach to management can be challenging in low-resource settings. However, knowledge of the features is crucial for the diagnosis and proper management of PHACE syndrome patients.