A patient with PHACE syndrome with marked ipsilateral cerebral atrophy.
The association of posterior fossa malformation, facial cavernous hemangioma, arterial anomalies, coarctation of the aorta/cardiac defects and eye abnormalities (PHACE syndrome) represents a rare congenital anomaly with a broad spectrum of clinical manifestations and female predominance. We herein report on a girl who manifested the typical clinical features of PHACE syndrome, unusually associated with severe ipsilateral cerebral atrophy and hemiplegia. She received surgical aortoplasty, local steroid injection and laser therapy for the hemangioma, and intense physical therapy soon after diagnosis. The etiology of PHACE syndrome remains unclear, and its clinical spectrum is broad. The current case suggests that the spectrum of PHACE syndrome should be further expanded to include other forms of cerebral disorder.
Wang
Nan-Koong
NK
Department of Pediatrics and Cardiac Surgery, Cathay General Hospital, Taipei, Taiwan. nankoon@ms14.hinet.net
Hung
Kun-Long
KL
Liao
Hon-Chai
HC
Lin
Yung-Ming
YM
D000015:Abnormalities, Multiple; D001011:Aorta / Q000473:pathology; D001013:Aorta, Thoracic / Q000002:abnormalities; D001284:Atrophy; D001921:Brain / Q000473:pathology*; D002343:Carotid Artery, Internal / Q000002:abnormalities; D002531:Cerebellum / Q000473:pathology; D002552:Cerebral Ventricles / Q000473:pathology; D003388:Cranial Fossa, Posterior / Q000002:abnormalities; D004108:Dilatation, Pathologic; D005260:Female; D006392:Hemangioma, Cavernous / Q000151:congenital*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D013577:Syndrome