Ocular malformations, moyamoya disease, and midline cranial defects: A distinct syndrome

PURPOSE: To report a 10-year-old girl with developmental anomalies of both optic disks, a chorioretinal coloboma, sphenopharyngeal meningoencephalocel e, and moyamoya disease. METHODS: A full ophthalmologic examination, cranial magnetic resonance imag ing and magnetic resonance angiography, and cerebral angiography were per f ormed, RESULTS: The patient had a morning glory disk anomaly and microphthalmos of the right eye and optic nerve hypoplasia and retinochoroidal coloboma in t he left rye, She had a midfacial cleft and an episode of seizures and a str oke. Magnetic resonance imaging showed a sphenopharyngeal meningoencephaloc ele. Magnetic resonance angiography and cerebral angiography demonstrated a pattern consistent with moya moya disease. CONCLUSIONS: This patient had a distinct syndrome of optic disk, retinochor oidal, and carotid circulation anomalies with midline cranial defects. The recognition and treatment of the vascular abnormalities and cranial defects may prevent complications such as strokes that may occur during or after g eneral anesthesia (C) 1999 by Elsevier Science Tnc. All rights reserved.