Customize your JAMA Network experience by selecting one or more topics from the list below.
Teratomas are embryonal tumors that are derived from all 3 germinal
layers (ectoderm, mesoderm, and endoderm). These neoplasms occur most commonly
in neonates, and they are frequently located in the sacrococcygeal and presacral
areas.1 Although intracranial teratomas
are rare, they are the most common brain tumors of the neonatal period,2 and most frequently involve the pineal region,
suprasellar region, hypothalmus, cerebellar vermis, and ventricles.1-3 Teratomas of
the optic nerve are exceedingly rare, with few reports in the English literature.4
We report a neonate with an optic nerve teratoma, an odontogenic orbital
dermoid cyst, and persistent fetal vasculature (PFV). We are not aware of
any previous case in which these entities have coexisted, and, to our knowledge,
this is the first report in which any 2 of the 3 have been documented as occurring
in the same patient.
A healthy 2-day-old white boy was referred for management of PFV of
the right eye. The patient was carried to term and had no family history of
any unusual eye disease. On examination under anesthesia, the patient appeared
enophthalmic on the right side, and had right microcornea (corneal diameters:
6.0 mm OD, 10.0 mm OS). Intraocular pressures were 5 mm Hg OD and 10 mm Hg
OS. Biomicroscopy of the right eye (Figure
1) revealed patches of band keratopathy at the 4-o'clock and 8-o'clock
positions, with peripheral corneal neovascularization extending 360°.
Dense fibrotic membranes extended from the pupillary margin and anterior iris
stroma into the anterior chamber angle. A yellow mushroom-shaped mass protruded
through the pupil. B-scan ultrasonography revealed a funnel-shaped stalk that
extended from an area surrounding the optic nerve to the retrolenticular region,
as is consistent with PFV. Axial lengths were 15.8 mm OD and 22.9 mm OS. Examination
results from the left eye were normal.
External and anterior segment
of the right eye. The patient was enophthalmic on the right side, with lower
eyelid ectropion. A cystic mass is present behind the right lower eyelid.
At age 1 month, the patient underwent attempted anterior segment reconstruction,
but the dense fibrotic membranes precluded lensectomy. At age 3 months, the
patient developed right lower-lid ectropion, and a cystic mass was palpated
in the anterior inferior orbit. Computed tomography demonstrated a hypoplastic
right orbit containing an extraconal infraorbital cyst (10 × 23 ×
13 mm) with calcifications. Magnetic resonance imaging (Figure 2) depicted a second discrete mass (10 × 10 ×
13 mm) that traversed the right optic canal into the suprasellar cistern.
This second lesion compressed the right optic nerve at the orbital apex and
extended along the length of the optic nerve to the anterior optic chiasm.
An orbitotomy was performed on the infant at age 3 months, with removal of
the cystic lesion from the right inferomedial orbit. During the procedure,
the lesion was isolated above the periosteum along the inferior orbital wall
and was noted to be multiloculated, with 3 distinct cystic bulges (Figure 3). While dissecting the lesion at
its base, we found a unicusped tooth (0.5 × 0.5 cm) between the cyst
and orbital wall, as well as a second toothlike structure that resembled a
hollow crown (0.7 × 0.6 cm). The resected cystic lesion measured 2.3
× 1.5 × 1.0 cm, with a fragment of smooth white tissue (0.5 ×
0.4 × 0.3 cm) attached to it. Histology revealed a dermoid cyst (Figure 4) and separate soft tissue, including
dental papillae and odontogenic rests. The 2 well-developed teeth were not
submitted for histologic examination.
Magnetic resonance imaging (MRI)
scans of optic nerve teratoma and an odontogenic orbital dermoid cyst. A,
T2-weighted MRI scan depicting optic nerve teratoma (arrows) involving the
right optic nerve and anterior optic chiasm. B, An extraconal infraorbital
cyst with calcifications (arrows) surrounds the microphthalmic right eye (arrowheads).
Gross photograph of the resected
multiloculated cystic lesion (orbital dermoid cyst) and 2 teeth.
Portion of dermoid cyst wall containing
epidermis with hair follicle (A) (arrow) and sebaceous (B) (arrow) structures
(hematoxylin-eosin, original magnification ×100).
At age 6 months, the patient underwent a right pterional craniotomy
for excision of the orbital apex lesion. The mass was fibrous and adherent
to the ophthalmic segment of the internal carotid artery as well as the right
optic nerve. The intracranial portion of the nerve was transected, and part
of the lesion remained within the orbit. Microscopic analysis of the excised
lesion revealed a mature teratoma composed of cartilage, nerve fascicles,
smooth muscle, pancreatic islets, and ductular structures with focal squamous
metaplasia, glands with gastric specialized type cells, fibrous tissue, and
focal chronic inflammatory infiltrate (Figure
Some of the diverse elements within
the mature teratoma included islands of cartilage (A) (arrows), pancreatic
islets (B) (arrow), and gastric-type glands with adjacent smooth muscle (C)
(arrow) (hematoxylin-eosin, original magnification ×200).
The patient underwent diagnostic workup for other germ cell tumors of
the mediastinum, abdomen, sacrum, and testes, with no further evidence of
Teratomas and orbital dermoid cysts typically contain tissues that are
foreign to their anatomic location.5 Many
authorities believe that teratomas arise from pleuripotential primordial germ
cells that undergo erroneous migration, later acquiring oncogenic properties.6 Similarly, dermoid cysts are derived from epithelial
cells that, during embryogenesis, become improperly sequestered within the
spaces between the sutures of orbital bones.7 While
not anatomically joined, the association and close proximity of the teratoma
and the dermoid cyst in our patient suggests a common origin or process in
the early intrauterine period.
Imaging studies revealed no evidence of a connection between the optic
nerve teratoma and the odontogenic dermoid cyst, indicating that the 2 lesions
were distinct entities. We have classified the orbital lesion as an odontogenic
dermoid cyst rather than a teratoma because this terminology more accurately
describes the pathologic findings and does not mandate that the lesion arose
from a neoplastic process. The presence of well-developed teeth in intimate
association with the dermoid cyst suggests that both components of the orbital
lesion were derived from tissue displaced from the skin and oral cavity during
embryogenesis.8 The presence of dental structures
within the orbital teratomas and orbital dermoids has previously been reported,9 but remains exceedingly rare.
Persistent fetal vasculature results from improper development of secondary
vitreous and an incomplete regression of the primary vitreous during the ninth
week of gestation.10 This malformation primarily
occurs from improper intrauterine ocular development rather than errant cellular
migration. However, a retrolenticular plaque containing elements such as adipose,
smooth muscle, and cartilage may be found in some cases, which represent ectopic
mesenchymal tissue.10 No intraocular specimens
were extracted from our patient; therefore, the presence of such mesenchymal
tissues could not be determined. The findings of microcornea and dense fibrotic
membranes extending from the pupillary margin into the anterior chamber angle
may also indicate a component of anterior segment dysgenesis in this severely
The congenital defects described in our patient represent unique developmental
anomalies involving the eye and brain. While systemic findings associated
with PFV are uncommon, the present case underscores the need to be vigilant
for signs of concurrent orbital and intracranial abnormalities.
Presented at the Association for Research in Vision and Ophthalmology
Meeting, May 11, 1997, Ft Lauderdale, Fla.
Corresponding author: Gregg T. Lueder, MD, St Louis Children's Hospital,
Division of Pediatric Ophthalmology, Suite 2 South 89, One Children's Place,
St Louis, MO 63110 (e-mail: email@example.com).
Guirgis MF, White FV, Dunbar JA, Smith ME, Lueder GT. Optic Nerve Teratoma and Odontogenic Dermoid Cyst in a Neonate With Persistent Fetal Vasculature. Arch Ophthalmol. 2002;120(11):1582–1585. doi:
Coronavirus Resource Center
Create a personal account or sign in to: