Midline craniofacial defects and morning glory disc anomaly. A distinct clinical entity

Abstract

A case with a severe midline craniofacial defect, comprising a midline cleft lip and palate with a sphenoethmoidal encephalocele, hypertelorism, bilateral dysplastic optic discs and agenesis of the corpus callosum is described. The optic discs are consistent with the spectrum of appearances seen in the Morning Glory Disc Anomaly (MGDA). This anomaly is usually a uniocular problem that may be rarely associated with craniofacial abnormalities. Despite this range of abnormalities this child was developing well with a specific motor delay at the age of eight months. Cases with similar midline craniofacial abnormalities from the literature are reviewed. This condition appears to be a distinct entity within the spectrum of frontonasal dysplasia.

Systemic Abnormalities in Children with Congenital Optic Disc Excavations

“…Morning glory disc anomaly has been reported in association with midline craniofacial defects, endocrine and central nervous system anomalies, and basal encephalocele. [9][10][11] Optic disc colobomas result from an incomplete closure of the embryonic fissure. The defect is characterized by a sharply, white, inferiorly decentered excavation of the optic disc.…”

Rare bilateral presentation of morning glory disc anomaly

“…Common ocular associations of MGDA are non-rhegmatogenous retinal detachment (most common), strabismus, congenital cataract, persistent hyaloid remnants, lid haemangiomas, preretinal gliosis, lens colobomas, chronic simple glaucoma, Duane's retraction syndrome, microphthalmia, anterior chamber cleavage syndrome and hypertelorism 9. Systemic associations include midline craniofacial defects, frontonasal dysplasia, depressed nasal bridge together with an osseous defect in the anterior skull base with herniation of pituitary-hypothalamic structures inferiorly into the defect, defects of the sella turcica, duplication of the pituitary stalk and caudal displacement of the floor of the third ventricle,10 basal encephalocele and agenesis of the corpus callosum, midline cleft lip and cleft palate,11 hypoplasia of optic chiasma, pituitary deficiency (endocrine dysfunction), hypoplastic cerebellar vermis and malformed occipital lobe, parieto-occipital porencephaly, mild hydrocephaly of lateral ventricle, brain atrophy and enlarged thalami,12 Moyamoya vascular pattern,13 PHACES association,14 CHARGE syndrome,15 and neurofibromatosis type 2 16…”

Morning Glory Syndrome Associated with Posterior Lenticonus

“…Morning glory syndrome frequently occurs as an isolated ocular abnormality, but systemic associations have been reported, including midline craniofacial defects [2, 6], defects of the sella turcica and endocrine dysfunction [6], Charge syndrome [7], moyamoya disease [8] and neurofibromatosis type 2 [9]. …”

“…The disc is usually enlarged with a funnel-shaped excavation surrounded by a usually raised pigmentary border. Whitish glial tissue is present at the bottom of the disc, representing an important criterion for diagnosing the syndrome [2]. The retinal blood vessels emerge from the periphery of the excavation in a radial pattern.…”