From the Oculoplasty, Tumors and Paediatric Ophthalmology Services (NP, MSB, MM, PY, RM, MS) and the Division of Ocular Pathology (SK), Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
The authors have no financial or proprietary interest in the materials presented herein.
Address correspondence to Seema Kashyap, MD, Ocular Pathology, 7th Floor, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029, India.
Glial heterotopia is the presence of normal brain tissue at an abnormal location, separated from the brain by bone and/or dura. Its occurrence in the orbit is extremely rare.1,2 Meningoceles or encephaloceles are extracranial or extraspinal extension of the meninges or brain with direct communication with the central nervous system. To the best of our knowledge, simultaneous occurrence of glial heterotopia and meningocele in the orbit has never been reported. To date, only two cases of the heterotopic brain tissue in the orbit have been reported with associated clinical anophthalmos.3,4 We report a case of a 5-year-old-boy who had glial heterotopia and meningocele of the orbit with clinical anophthalmos and neurological anomalies.
A 5-year-old boy presented with a bulky and completely closed left eyelid since birth (Fig. 1). There was no increase in size. He had delayed speech and walking. The pregnancy was uneventful and the child was born at full term. The parents were normal with no history of consanguinity, congenital abnormalities, or tumors within the family. The first sibling was a stillborn female. Cosmetic concern was the reason for the parents to seek medical advice.
Figure 1. Clinical Photograph Showing Left-Sided Complete Ptosis with Fullness of the Upper Eyelid and Facial Asymmetry.
On general physical examination, height and weight were normal for age. The child dragged his right leg while walking. He had facial asymmetry and high arched palate. Respiratory, cardiovascular, and gastrointestinal systems were normal. There was upper motor neuron hemiparesis of the right side.
On ocular examination, the visual acuity was 20/20 in the right eye and no light perception in the left eye. The left upper eyelid was bulky and had completely covered the ocular surface with absent levator muscle action. The eyeball was not visible. On palpation, the orbit was occupied by a soft tissue mass, the posterior extent of which was not palpable.
Contrast-enhanced computed tomography of the orbit and head showed a large, complex soft tissue mass occupying the entire left orbit. The mass had a solid anterior component and a well-demarcated cystic posterior component. A nodular calcified area was also seen in the antero-inferior part of the mass. A formed eyeball was not visible. There was no intracranial extension of the mass. Orbital expansion was present with no bony erosion. The right orbit and eye were normal. Paranasal sinuses were normal. There was agenesis of the corpus callosum, colpocephaly, parallel orientation of the lateral ventricles, and the right cerebral hemisphere was larger and the right lateral ventricle was more prominent than the left. Grey matter heterotropia was present in the frontal lobe tissue.
Magnetic resonance imaging also showed a solid lesion in the left anterior orbit that was hypointense on T1-weighted images and homogenously hyperintense on T2-weighted images with mild contrast enhancement. A well-defined cystic lesion with conical shape posteriorly was hypointense on T1 and hyperintense on T2 images (Fig. 2A). No enhancement was seen. The eyeball, extraocular muscles, and optic nerve were not visualized. Findings on magnetic resonance imaging of the brain were similar to those on the computed tomography scan (Fig. 2B). We planned to debulk the mass with socket reconstruction to provide cosmesis and establish histopathologic diagnosis.
Figure 2. (A) Magnetic Resonance Imaging (MRI) Scan (axial Cut, T1 Weighted) Showing a Left Orbital Mass that Is Solid Anteriorly and Cystic Posteriorly. (B) MRI Scan (axial Cut, T1 Weighted) Showing Dilatation of the Lateral Ventricle. (C) MRI Cisternogram (postoperative) Showing Dye in the Orbital Cyst Suggestive of Meningocele.
A transconjunctival approach was taken. A rudimentary globe was identified and the solid anterior part was easily separable from the posterior cystic portion. Pulsations were visible on aspiration of the cyst. This suggested it to be a meningocele and further dissection was stopped. The cyst wall was ligated, the conjunctiva was closed properly, and a pressure bandage was applied. Postoperatively, intravenous antibiotics along with acetazolamide were given in consultation with the neurologist. The orbital swelling reappeared. Magnetic resonance imaging cisternography confirmed the diagnosis of meningocele (Fig. 2C). The patient was advised to follow up with the neurologist for further surgery.
Histopathologic examination showed well-differentiated glial cells with no tissue belonging to any of the other germ layers. Glial fibrillary acidic protein was strongly positive in the glial elements. The rudimentary globe revealed calcification, uveal pigments, and fibrous tissue. These features were suggestive of glial heterotopia with rudimentary globe (Fig. 3).
Figure 3. (A) Microphotograph Showing Uveal Pigment in a Background of Fibrous Tissue (hematoxylin–Eosin, Original Magnification ×200). (B) Microphotograph Showing Mature Glial Cells and Fibrous Tissue (hematoxylin–Eosin, Original Magnification ×100). (C) Microphotograph Showing Well-Differentiated Glial Cells and Calcification (arrow) (hematoxylin–Eosin, Original Magnification ×200).
Congenital anomalies mostly occur due to unknown insult during embryogenesis. The clinical anophthalmos or extreme microphthalmos originates in the early stages of embryonic life. It happens if the primary optic vesicle buds out but undergoes degeneration or atrophy.5 We hypothesized in the current case that the primary optic vesicle budded from the cerebral vesicle, taking with it part of the tissue destined to exhibit normal brain tissue. The meninges herniated through the optic canal later in the process of embryogenesis and therefore no adherence was found with glial heterotopia. The growth of ectopic glial tissue and meningocele led to destruction or atrophy of the primary optic vesicle and hence its development into a rudimentary globe.
Glial heterotopia or ectopic brain tissue has been reported in the head and face, most commonly in and around the nose.6,7 It usually presents at birth or during early infancy. In the orbit, it presents as proptosis,8–10 eyelid tumor,11,12 conjunctival mass,1 motility disorder,1,2 or similar lesions elsewhere.13 To date, all of the reported cases except three had a completely formed eyeball2 or clinical anophthalmos3,4 and one had microphthalmos with cyst.14
In the current case, there was a rudimentary globe. A similar case reported by Scheiner et al.4 had congenital anophthalmos with orbital glial heterotopia, which was a dysplastic brain tissue. Like the current case, their case also had no true anophthalmos because they had found primitive sensory retinal cells and pigmented epithelium within the orbital mass. Another similarity was that both of these cases had multiple neurological anomalies. Association of orbital ectopic brain tissue with clinical anophthalmos and neurological anomalies in both of these cases suggests that the developmental insult occurred at an early gestational age when the eyeball and brain structures are developing.
Reported cases in the literature with formed eyeball had no systemic anomalies except a case with associated porencephalic cyst in the ipsilateral cerebral hemisphere11 and a case of Turner’s syndrome.12 The other ocular associations reported in cases of ectopic brain tissue are optic atrophy, optic nerve coloboma, squint, and extraocular muscle anomaly.1,2,14
Glial heterotopia is diagnosed on the basis of presence of glial cells, especially astrocytes within the fibrillary matrix of fibrous connective tissue. A positive glial fibrillary acidic protein, S-100 protein, or Trichome stain helps further in establishing the diagnosis. Rarely, ectopic brain tissue may consist of ganglion cells,9 ependymal cells, duramater and choroidal plexus,2,14 and cerebellar tissue.8 Skeletal muscle fibers also have been found in a few cases.10,12 Calcification, often seen as laminated calcific bodies, may be found,10,12 but it was observed within the rudimentary globe in the current case. In some cases, local production of cerebrospinal fluid by the tumor was also found.12,14
The treatment is excision of heterotopic tissue, sparing the normal structures as far as possible. However, incomplete resection may lead to recurrence.10,12 This was an interesting case wherein three different congenital anomalies of the orbit developed because of the linked developmental process.
- Ghose S, Balasubramaniam ST, Mahindrakar A, et al. Orbital ectopic glial tissue in relation to medial rectus: a rare entity. Clin Experiment Ophthalmol. 2005;33:67–69. doi:10.1111/j.1442-9071.2004.00945.x [CrossRef]
- Park KA, Kim HJ, Kim YD. Ectopic brain in the orbit with congenital adduction deficit and simultaneous abduction. Ophthal Plast Reconstr Surg. 2007;23:244–246. doi:10.1097/IOP.0b013e3180577d57 [CrossRef]
- Grover AK, Chaudhuri Z, Popli J. Clinical anophthalmia with orbital heterotopic brain tissue. Ophthalmic Surg Lasers Imaging. 2007;38:148–150.
- Scheiner AJ, Frayer WC, Rorke LB, Heher K. Ectopic brain tissue in the orbit. Eye. 1999;13:251–254.
- Elder SDuke . System of Ophthalmology: Normal and Abnormal Development, vol. 3, part 2. St. Louis: C. V. Mosby; 1964.
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- Cerda-Nicolas M, Sanchez Fernandez de Sevilla C, Lopez-Gines C, Peydro-Olaya A, Llombart-Bosch A. Nasal glioma or nasal glial heterotopia? Morphological, immunohistochemical and ultrastructural study of two cases. Clin Neuropathol. 2002;21:66–71.
- Call NB, Baylis HI. Cerebellar heterotopia in the orbit. Arch Ophthalmol. 1980;98:717–719.
- Harmon HL, Gossman MD, Buchino JJ, Eberly SM, Roberts DM, Fishman PH. Orbital ganglioglioma arising from the ectopic neural tissue. Am J Ophthalmol. 2000;129:109–111. doi:10.1016/S0002-9394(99)00288-3 [CrossRef]
- Newman NJ, Miller NR, Green WR. Ectopic brain in the orbit. Ophthalmology. 1986;93:268–272.
- Holbach LM, Naumann GO, Font RL. Neuroglial choristoma presenting as congenital lid tumor. Graefes Arch Clin Exp Ophthalmol. 1989;227:584–588. doi:10.1007/BF02169457 [CrossRef]
- Wilkins RB, Hofmann RJ, Byrd WA, Font RL. Heterotopic brain tissue in the orbit. Arch Ophthalmol. 1987;105:390–392.
- Bajaj MS, Kashyap S, Wagh VB, Pathak H, Shrey D. Glial heterotopia of the orbit and extranasal region: an unusual entity. Clin Experiment Ophthalmol. 2005;33:513–515. doi:10.1111/j.1442-9071.2005.01072.x [CrossRef]
- Lorenz B, Elflein HM, Hofstadter F. Ependymal tissue in microphthalmia with cyst. Ophthalmic Genet. 2006;27:165–168. doi:10.1080/13816810600977085 [CrossRef]