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 meningoencephalocele, and moyamoya disease.

METHODS

A full ophthalmologic examination, cranial magnetic resonance imaging and magnetic resonance angiography, and cerebral angiography were performed.

RESULTS

The patient had a morning glory disk anomaly and microphthalmos of the right eye and optic nerve hypoplasia and retinochoroidal coloboma in the left eye. She had a midfacial cleft and an episode of seizures and a stroke. Magnetic resonance imaging showed a sphenopharyngeal meningoencephalocele. Magnetic resonance angiography and cerebral angiography demonstrated a pattern consistent with moyamoya disease.

CONCLUSIONS

This patient had a distinct syndrome of optic disk, retinochoroidal, 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 general anesthesia.