Morning glory syndrome associated with posterior pituitary ectopia and hypopituitarism

Abstract

ABSTRACT.Purpose: To report a patient with morning glory syndrome in combination with posterior pituitary ectopia and to emphasize the need for early recognition of this syndrome as an important step towards the diagnosis and treatment of the systemic anomalies that may be associated with it. Methods: We present a 7-year-old boy who showed short stature, nystagmus, inward deviation and low vision. Ophthalmological and general physical examinations, further endocrine evaluation and magnetic resonance imaging (MRI) of the brain and sella turcica were performed. Results: Both fundi showed symptoms of morning glory syndrome. The discs were pink and deeply excavated, and were surrounded by a ring of chorioretinal pigmentary disturbance. Magnetic resonance imaging revealed the absence of the infundibulum and posterior pituitary ectopia. Growth hormone studies confirmed the diagnosis of growth hormone deficiency. Therapy with recombinant human growth hormone was initiated. Conclusions: Although most cases of morning glory syndrome occur as isolated ocular abnormalities, it may occur in association with systemic anomalies, including posterior pituitary ectopia and hypopituitarism. A complete general physical examination and growth evaluation is important for early detection and treatment, resulting in benefit for these patients.

A prospective study of PHACE syndrome in infantile hemangiomas: Demographic features, clinical findings, and complications

“…This emphasizes known, but likely under-recognized, associations between structural pituitary anomalies, excavated optic disc anomalies (see Table IV) and/or optic nerve hypoplasia, and multiple endocrinopathies including hypopituitarism, hypothyroidism, growth hormone deficiency and diabetes insipidus, findings of which are also similar to those of Septo-Optic Dysplasia (OMIM #182230) [Komiyama et al, 2000;Thomas et al, 2001;Traggiai and Stanhope, 2002;Pierre-Filho et al, 2004]. Lingual thyroid with subsequent hypothyroidism has been reported previously [Frieden et al, 1996].…”

The pyrolysis behaviors of polyimide foam derived from 3,3′,4,4′‐benzophenone tetracarboxylic dianhydride/4,4′‐oxydianiline

“…One of our PHACE patients had a partially absent sella turcica and ocular coloboma in association with growth hormone deficiency (NW‐1) [Goddard et al, submitted]. This emphasizes known, but likely under‐recognized, associations between structural pituitary anomalies, excavated optic disc anomalies (see Table IV) and/or optic nerve hypoplasia, and multiple endocrinopathies including hypopituitarism, hypothyroidism, growth hormone deficiency and diabetes insipidus, findings of which are also similar to those of Septo‐Optic Dysplasia (OMIM #182230) [Komiyama et al, 2000; Thomas et al, 2001; Traggiai and Stanhope, 2002; Pierre‐Filho et al, 2004. Lingual thyroid with subsequent hypothyroidism has been reported previously [Frieden et al, 1996.…”

PHACE Syndrome: Current Knowledge, Future Directions

“…Reports of absent sella turcica in association with growth hormone deficiency emphasizes a known, but likely under recognized, association between structural pituitary anomalies, excavated optic disc anomalies and/or optic nerve hypoplasia, and multiple endocrinopathies including hypopituitarism, hypothyroidism, growth hormone deficiency and diabetes insipidus (13,19–21). Intracranial IH are relatively rare as an isolated finding, but are increasingly detected in PHACE patients, likely as a result of improved screening with contrast‐enhanced MRI.…”