Pituitary stalk duplication in association with moya moya disease and bilateral morning glory disc anomaly – broadening the clinical spectrum of midline defects

Background Duplication of the pituitary stalk, morning glory disc anomaly and moya moya are rare malformations. The combination of these findings may be syndromic and may have an underlying genetic etiology. Methods Case report and review of the literature of neurological, ophthalmological, and neuroradiological findings including ophthalmic examination, MRI and MRA. Case report A 2 year-old girl presented with reduced visual acuity and roving eye movements since birth. Ophthalmological workup revealed bilateral morning glory disc anomaly. MRI showed duplication of the pituitary stalk and caudal displacement of the floor of the third ventricle. MRA showed narrowing of the supraclinoid internal carotid arteries with focal narrowing of the proximal middle cerebral arteries consistent with early moya moya disease. Conclusions Review of the literature of pituitary gland duplication and of the combination of morning glory disc anomaly and moya moya disease revealed only one previously reported case. However, the spectrum of this possibly syndromic presentation may be much broader and include various types of anterior midline defects and may have a common underlying genetic cause.