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

• Published in: Journal of neurology 2008-06, Vol.255 (6), p.885-890
• Main Authors: Loddenkemper, T., Friedman, N. R., Ruggieri, P. M., Marcotty, A., Sears, J., Traboulsi, E. I.
• Format: Article
• Language: English
• Subjects: Biological and medical sciences; Carotid Artery, Internal - pathology; Carotid Artery, Internal - physiopathology; Cerebral Arteries - pathology; Cerebral Arteries - physiopathology; Child, Preschool; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Disease Progression; Female; Humans; Magnetic Resonance Angiography; Magnetic Resonance Imaging; Medical sciences; Medicine; Medicine & Public Health; Middle Cerebral Artery - pathology; Middle Cerebral Artery - physiopathology; Moyamoya Disease - complications; Moyamoya Disease - physiopathology; Nervous System Malformations - complications; Nervous System Malformations - physiopathology; Neurology; Neuroradiology; Neurosciences; Optic Disk - abnormalities; Original Communication; Pituitary Gland - abnormalities; Retina - abnormalities; Retinal Artery - abnormalities; Third Ventricle - abnormalities
• ISSN: 0340-5354; 1432-1459
• DOI: 10.1007/s00415-008-0799-5

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.