Case Report: Hyperprolactinemia and growth hormone deficiency associated with Morning Glory Syndrome; with a review of the literature

Abstract

Morning Glory Syndrome (MGS) is a rare congenital malformation of the optic nerve that is caused by a failure of the closure of the choroidal embryonic fissure in utero. The syndrome is usually seen in association with midline cranial defects, such as transsphenoidal and basal encephaloceles. Although MGS usually presents as an isolated ocular finding, it can be associated with endocrinological abnormalities. We report a case of a 32 year old female with MGS with hyperprolactinemia and growth hormone (GH) deficiency. She was diagnosed with MGS at the age of three and her past medical history was significant for left eye blindness, hyperprolactinemia and GH deficiency. She has received GH replacement and oral contraceptive pills in the past. Our investigations revealed elevated prolactin levels (63mg/l) and borderline low GH levels. Magnetic resonance imaging revealed an abnormality involving the optic chiasm, left optic nerve and compression of the pituitary gland by a basal encephalocele. Genetic studies were positive for a mutation in Paired box 6 gene (PAX6). She is being currently treated with cabergoline for her hyperprolactinemia. Our aims of this report are to highlight the hormonal manifestations of MGS and to review the etiopathogenesis of this rare disorder.