The Morning Glory Syndrome Associated with Sphenoidal Encephalocele

The Morning Glory Syndrome Associated with Sphenoidal Encephalocele

The Morning Glory Syndrome Associated with Sphenoidal Encephalocele STEVEN B. KOENIG, MD,* THOMAS P. NAIDICH, MD,t GARY LISSNER, MD* Abstract: A 13...

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The Morning Glory Syndrome Associated with

Sphenoidal Encephalocele


Abstract: A 13-year-old girl was found to have a "morning glory" optic disc anomaly associated with remnants of the primitive hyaloid vasculature, midline cleft lip and palate, agenesis of the corpus callosum, and a sphenoidal encephalocele. The association of these developmental anomalies indicates that the "morning glory" optic disc anomaly may occur as part of a more extensive syndrome of midline cranioencephalic dysraphism. [Key words: cleft lip-midline, corpus callosum-agenesis, cranioencephalic, morning glory syndrome, optic disc coloboma, primitive hyaloid vasculature.] Ophthalmology 89: 1368-1373, 1982

Kindler introduced the term "morning glory syndrome" to describe a clinical complex associated with an unusual optic disc resembling the flower of the same name. 1 The "morning glory" disc is a unilaterally enlarged optic disc with a funnel-shaped excavation and an elevated peripapillary tissue annulus. 1 The retinal vessels are straight and narrow, and their origins may be obscured by a central mass of whitish tissue overlying the optic disc. 1 Patients with the morning glory syndrome usually present at an early age with poor vision and/or strabismus. 1-3 They frequently have a myopic refractive error 2 •3 and may develop nonrhegmatogenous retinal detachments 1.4; Pulsatile elevation of the peripapillary retina was reported in a child with a similar optic disc anomaly. 5 The morning glory syndrome has been associated with ipsilateral congenital ocular anomalies such as remnants of the hyaloid vasculature and hemangioma of the ipsilateral eyelid. 1 The morning glory syndrome has also been associated with contralateral congenital ocular anomalies such as optic disc coloboma, microphthalmos, and anterior chamber From the Departments of Ophthalmology' and Radiologyt, The Children's Memorial Hospital and Northwestern University Medical School, Chicago, Illinois. Reprint requests to Steven B. Koenig, MD, LSU Eye Center, 136 South Roman Street, New Orleans, 70112.


cleavage syndrome. 1 Concomitant developmental midline defects of the central nervous system are believed to occur rarely in this syndrome. 3 ,6 We report herein the case of a child with the morning glory syndrome associated with remnants of the primitive hyaloid vascular system, midline dysraphia including cleft lip and primary palate, agenesis of the corpus callosum, and sphenoidal encephalocele.

CASE REPORT A 13-year-old white girl was the 5 lb, 4 oz product of an uncomplicated 35- to 36-week gestation and normal delivery. At birth, the child was noted to have a midline cleft lip; this was repaired surgically at age 19 months. The child had a long history of intermittent nasal obstruction, "mouth breathing," and chronic mucoid nasal discharge. Vision in her left eye had been poor since birth. At age 5 years she was told that she had "scar tissue on the left optic nerve." The patient had no history of change in vision, polyuria, or polydipsia; menarche had not yet occurred. General physical examination revealed weight: 87 Ibs (approximately 20th percentile); height: 140.5 cm (below 3rd percentile); and head circumference: 55 cm (approximately 75th percentile). 6 Early breast budding was noted, and there was sparse axillary hair but no pubic hair. The patient breathed through her mouth. Examination of the oral cavity revealed 0161-6420/82/1200/1368/$1. \0 © American Academy of Ophthalmology


diastasis of the medial incisors and a high arched palate, but no evidence of a submucous cleft. The nares and pharynx appeared grossly clear with no evidence ofa mass lesion. The nasal root appeared wide; the distance between the inner canthi measured 30 mm (50th percentile). The lid fissures had an anti mongoloid slant. The distance between the inner and outer canthi measured 31 mm in each eye. The interpupillary distance measured 56 mm (50th percentile).7 The interpalpebral fissure height was 9 mm in the right eye and 8 mm in the left eye, measured through the central pupillary aperture, with a greater relative ptosis of the lateral left upper lid (Fig 1). Her best-corrected vision was 20120 in the right eye and finger counting at 4 ft in the left eye. Cycloplegic retinoscopy revealed a refractive error of -1.00 diopter sphere in the right eye and -0.50 + 0.75 x 120 in the left eye. Both pupils measured 4.5 mm in dim light, and the left pupil demonstrated a relative afferent pupillary defect. A 30 prism diopter exotropia (V-pattern) and latent nystagmus were present in the left eye. Ludde exophthalmometry revealed a scale reading of 17 in the right eye and 16 in the left eye. The right visual field was normal to a 1 mm white target on the tangent screen and to the I-2e and I-4e targets on the Haag Streit Goldmann perimeter. The left visual field was grossly constricted as tested by the confrontation method. Slit-lamp examination revealed a posterior lens capsule opacity consistent with a Mittendorf dot in the left eye (Fig 2). The intraocular pressure by applanation was 18 mm Hg in each eye. No clinical evidence of microphthalmia was found. Examination of the right fundus revealed a normal optic disc with a cup to disc ratio of 0.25. The retinal vessels and macula were normal. A 1 disc diameter area of retinal pigment epithelial hypertrophy was present in the superotemporal retinal periphery. The left optic disc appeared enlarged and slightly pale (Fig 3). The optic disc margin was obscured by a mildly elevated mottled white tissue mass that surrounded the optic disc and radiated peripherally in a spokelike pattern. Narrowed retinal vessels overlay this peripapillary ring of tissue. A fluffy grayish-white tissue mass was present anterior to the optic disc and obscured the view of the retinal vessels as they emerged from the disc. Although the optic disc appeared excavated inferotemporally, the limits of the cup were obscured by the prepapillary tissue mass.

Fig 1. Frontal view of the face shows repaired midline cleft lip, short premaxilla with slight diastasis of the media incisors, broad root of the nose, and left exotropia.

A thin strand of tissue extended from the fluffy tissue overlying the disc to the posterior lens opacity. A crescent of peripapillary chorioretinal atrophy was present inferotemporally. The left macular ring reflex was poor. The retinal peripherally appeared normal. Laboratory data included the following: white blood cell count, 10,OOO/mm3; hemoglobin, 13.4 gm%; hematocrit, 40.2; urine specific gravity, 1.026; thyroxine (by radioimmunoassay), 8.2 mcg/dl (normal = 5.0 - 12.0 mcg/dl). The bone age was II years, which is between 1-2 standard deviations of the mean (standard deviation of bone age by hand radiographs for girls of chronologic age 13 years :':: 14.6 months). Computed tomography (CT) demonstrated agenesis of the corpus callosum (Fig 4). High-resolution CT of the face and orbits revealed hypertelorism and a large sphenoidal encephalocele. The sphenoid and ethmoid sinuses were separated, and there was scooping of the cribrifbrm plate. A midline cleft of the primary palate was present. The globes appeared to be grossly equal in size. Transfemoral arteriography demonstrated downward deflection of the proximal anterior cerebral artery into the defect. Metrizamide CT cisternography demonstrated a continuous soft-tissue density that arose at the tuber cinereum anterior to the mammillary bodies and extended downward through the sphenoidal dehiscence into the nasopharynx (Fig 5). Although the child appeared to be of small stature for her age, the endocrinology service felt that the presence of the initial signs of puberty and the normal bone age suggested normal anterior pituitary function.

DISCUSSION Handmann described six cases of anomalous optic discs characterized by normal size, cylindrical excavation, and an optic cup filled with a mass of gliotic tissue. 8 Handmann's disc anomaly shares similarities with the morning glory syndrome, but differs in the size of the disc and the shape of the disc excavation. The two anomalies are probably related. 9 Although this patient's optic disc resembles Handmann's anomaly in some respects, we have classified it as a morning glory syndrome due to its large size. Kindler believed that the morning glory disc should be distinguished from the optic disc coloboma,1 but other authorities feel it is related to the optic disc coloboma as well as to other varieties of optic disc dysplasia including optic nerve hypoplasia and megalopapilla. 10 ,11 Pedler described the histopathologic features of posteriorly displaced lamina cribrosa, scleral ectasia, a gliotic peripapillary tissue mass, and a malformed optic nerve in a patient with an unusual optic disc coloboma. 12 Although there is no clinical confirmation, this may have been a morning glory syndrome. Localized optic nerve coloboma, without associated uveal defects, may result from maldevelopment of the fetal epithelial papilla or defective closure of the proximal portion of the embryonic cleft. 13 Such colobomas may be associated with localized scleral ec1369


Fig 2. Mittendorf dot and remnants of the primitive hyaloid vasculature present in the left eye.

Fig 3. Fundus photograph of the left eye demonstrating the Morning Glory optic disc anomaly.

tasia, adjacent retinal pigmentary changes, and persistence of the hyaloid vasculature. 14 In our patient, the presence of remnants of the primitive hyaloid vasculature extending from the fluffy prepapillary tissue mass to the posterior lens opacity seems to support Kindler's claim that the tissue lying within the optic

cup in the morning glory syndrome is related to remnants of the hyaloid system. Other authors have reported optic disc anomalies similar to the morning glory syndrome associated with midline craniofacial and central nervous system defects. 6,10 Pollack et al described the case of a 7-year-old

Fig 4. Contrast-enhanced axial CT images disclose mild dilatation of the atria (white arrowhead), anterior pointing and wide separation of the frontal horns (white arrows), and divergence of the medial walls of the bodies of the ventricle, diagnostic of agenesis of the corpus callosum.



Figs SA-E. Metrizamide high-resolution CT cisternography. A, top left. axial CT demonstrates metrizamide-opacified cerebrospinal fluid (CSF) within the suprasellar cistern (white arrows). Sylvian fissures (crossed white arrows), and interhemispheric fissure (double crossed white arrows) outlining the posterior cerebral arteries ( ...... ). middle cerebral arteries (white arrowhead) , and hypothalamus (iit). B, top right. next inferior axial CT, demonstrates the soft-tissue mass of the encephalocele ( E ) and surrounding CSF in the sella turcica ( ......... ) opacification of the perioptic subarachnoid cisterns (white arrowheads) , and wide separation of the orbits . C, center left, next inferior CT, shows the encephalocele (E) and surrounding opacified CSF in the bony ostium. D, center right. direct coronal CT at the posterior end of the orbits (oriented with patient ' s left to reader's right) shows the metrizamide-opacified optic nerve sleeves (white arrowheads), midline bony defect, and opacified CSF surrounding the soft-tissue mass of the encephalocele (E) resting on the hard palate (P). E, left, direct coronal CT, I cm posterior to Fig. 6D, documents the continuity of the soft-tissue mass (E) with the brain above. S = sphenoid sinuses . Pt = pterygoid processes. The white arrow indicates the soft palate .



girl with a transsphenoidal encephalocele, midline cleft lip, and optic disc anomaly that appeared consistent with the morning glory syndrome. 6 Goldhammer and Smith reported the case of an infant with a basal encephalocele associated with a cleft lip and a dysplastic optic disc that appeared similar to the morning glory syndrome. 10 In addition, optic disc anomalies such as colobomata, optic pits, and megalopapilla have been associated with midline craniofacial defects and central nervous system anomalies. 10,15-17 The concurrence of midline cleft lip and primary palate, sphenoidal encephalocele, agenesis of the corpus callosum, and an optic disc anomaly suggests a common developmental origin involving defective embryogenesis of midline structures. A midline palatal cleft results from failure of fusion of the lateral palatal shelves that begin to develop at seven to eight weeks of fetal growth. 18 Although the pathogenesis of sphenoidal encephaloceles is unclear, it may be related to defective closure of the craniopharyngeal duct that usually occurs between the fourth and eighth week of fetal development. 16 ,17 The corpus callosum usually forms between the third and fifth fetal month. 19 Closure of the embryonic cleft occurs between the fifth and seventh week of fetal development. 20 Therefore, one may speculate that an insult occurring during the first trimester offetal growth could lead to maldevelopment of the midline craniofacial, ocular, and central nervous system structures as demonstrated by our patient. Patients with encephaloceles may exhibit other developmental anomalies including midline facial clefting involving the lips, primary palate, and nose. 16 DeMyer used the term "median cleft face syndrome" to describe patients who exhibited two or more of the following characteristics: cranium bifidum occultum, hypertelorism, median cleft nose, lip, and primary palate. 21 Agenesis of the corpus callosum was present in one patient with the "median cleft face syndrome," but ocular anomalies were not described. DeMorsier employed the term "median cranioencephalic dysraphia" to describe midline defects of the brain and skull that resulted from arrested development. 22 Included in this syndrome are clefting of the telencephalon, diencephalon, and rhombencephalon. Agenesis of the corpus callosum and absence of the septum pellucidum represent a type of cranioencephalic dysraphia involving structures of telencephalic origin. 22 Both anomalies have been associated with other congenital defects, including facial clefting and encephaloceles. 22 - 24 Agenesis of the corpus callosum has been found together with optic nerve colobomata, iris coloboma, microphthalmia, and lens opacities. 19,24 DeMorsier has reported absent septum pellucidum together with malformations of the optic chiasm (septo-optic dysplasia) and optic nerve. 22 Midline cerebral dysraphism, midline facial clefting, and optic disc anomalies form a constellation of pathologies that overlap in tenuous but intriguing ways. 6,10,15,16,19-28 The association of the morning glory


syndrome with a sphenoidal encephalocele, midfacial clefting, and agenesis of the corpus callosum indicates that this optic disc anomaly may occur as part of a more extensive syndrome of midline dysraphism. The presence of this optic disc anomaly should alert the ophthalmologist to the possibility of concomitant malformations ofthe skull and central nervous system.

ACKNOWLEDGMENTS The authors wish to thank Carol Fabian, Carol Freda, RN, Olga Guzman, Tracy Kolbas, RN, Arthur Nieves, RT, Patrician Pavelec, RT, Gloria Short, and David Weil of Kascot Medi-Media for their assistance in manuscript preparation.

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