Concomitant Intraocular Retinoblastoma and Choroidal Hemangioma in a 1-Year-Old Boy
Yacoub A. YOUSEF1, Maysa AL-HUSSAİNİ2, Fareed H. BARAKAT2, Alaa SALEH3, Mona MOHAMMAD1, Rasha DEEBAJAH4
We report a case of concomitant choroidal hemangioma in an eye that harbored intraocular retinoblastoma (RB) in a 1-year-old child. A 12-month-old boy presented with right white pupil (Leukocoria). The initial clinical diagnosis was unilateral intraocular RB Group C. The eye was treated initially by systemic chemotherapy combined with focal consolidation therapy followed by I-125 plaque radiotherapy. Massive sub-retinal recurrence was seen 4 months later, and Magnetic Resonance Imaging (MRI) showed extra-scleral invasion of the tumor, and therefore enucleation was performed. Microscopic examination revealed a differentiated retinoblastoma associated at the site of the base of the tumor with choroidal hemangioma with trans-scleral invasion. Orbit MRI was repeated 3 months after the surgery, and there was no orbital tumor recurrence. We are reporting a rare case of pathologically concomitant choroidal hemangioma with trans-scleral invasion in an eye that harbored active recurrent intraocular RB. This trans-scleral extension of hemangioma was misinterpreted by MRI as extraocular retinoblastoma and resulted in enucleation.
Keywords: Choroidal neoplasm, Hemangioma, Leukocoria, Retinoblastoma
We report a case of concomitant choroidal hemangioma in an eye that harbored intraocular retinoblastoma (RB) in a 1-year-old child. A
12-month-old boy presented with right white pupil (Leukocoria). The initial clinical diagnosis was unilateral intraocular RB Group C. The
eye was treated initially by systemic chemotherapy combined with focal consolidation therapy followed by I-125 plaque radiotherapy. Massive
sub-retinal recurrence was seen 4 months later, and Magnetic Resonance Imaging (MRI) showed extra-scleral invasion of the tumor, and
therefore enucleation was performed. Microscopic examination revealed a differentiated retinoblastoma associated at the site of the base of the
tumor with choroidal hemangioma with trans-scleral invasion. Orbit MRI was repeated 3 months after the surgery, and there was no orbital
tumor recurrence. We are reporting a rare case of pathologically concomitant choroidal hemangioma with trans-scleral invasion in an eye that
harbored active recurrent intraocular RB. This trans-scleral extension of hemangioma was misinterpreted by MRI as extraocular retinoblastoma
and resulted in enucleation.
Retinoblastoma (RB) is the most common intraocular
malignant tumor in children with about two-thirds of cases
occurring before the end of the third year of age1
RBs usually remain undetected until they grow large enough
to produce a white pupil or result in eye redness and pain
due to secondary glaucoma. RB often spreads through the
optic nerve, or the orbital tissues by penetrating the sclera2,
and it is therefore not uncommon to see concomitant
intraocular and orbital space-occupying lesions in patients
with advanced RB. Although the diagnosis of RB is clinical,
imaging plays an important role in supporting the diagnosis
in addition to the ability to detect extraocular disease
. Magnetic Resonance Imaging (MRI) is used
to answer the key clinical questions that may help in the
selection of an appropriate line of treatment by detecting
tumor extension, optic nerve and retro-bulbar space
involvement, as well as brain metastasis3,4
Herein we are reporting a very rare case of concomitant
choroidal hemangioma with trans-scleral invasion in an eye
that harbored active recurrent intraocular RB in a 1-yearold
child that was misinterpreted by MRI as extraocular
extension of RB. MEDLINE search of the published
literature did not show any similar cases.
A 12-month-old boy presented with two weeks history of
right white pupil (Leukocoria) and loss of fixation when
the left eye was closed. There was no family history of eye
cancer. On examination, the right eye did not fixate, while
the left eye was central, steady and maintained. There was
right afferent pupillary defect. No ocular inflammation and
no port wine stain were seen.
Examination under anesthesia showed normal anterior
segment, and intraocular pressure was 14mmHg in both
eyes. Dilated fundus exam of the right eye revealed large
macular retinal amelanotic mass associated with focal subretinal
seeds and vitreous seeds within 3mm of the tumor
(Figure 1A). There were no abnormal iris vessels or anterior
segment invasion. The left fundus exam was unremarkable.
Click Here to Zoom
|Figure 1: Clinical features. Fundus exam of the right eye at diagnosis A) revealed large macular retinal tumor (black star) with enlarged
vessels associated with sub-retinal fluid, focal sub-retinal seeds, and vitreous seeds. B) Four months after radioactive plaque therapy, the
patient developed recurrent tumor activity in the main tumor (black star) associated with multiple active retinal seeds (black arrows).
Orbit MRI revealed a right endophytic, dome-shape
intraocular mass that showed a hyper intense signal on T1-
weighted images and intermediate signal on T2-weighted
images with mild homogeneous post contrast enhancement
(0.6cmx1.3cm) and no extra scleral extension or optic nerve
The initial clinical diagnosis was unilateral intraocular
endophytic retinoblastoma (RB); international intraocular
retinoblastoma (IIRC) group C5. The family elected to follow conservative therapy (rather than enucleation),
and therefore the patient received 6 cycles of systemic
chemotherapy (CVE) combined with focal consolidation
therapy. Since the tumor was active and localized after 6
cycles, I-125 radioactive plaque was inserted. Initially the
tumor showed regression, but tumor recurrence was seen
4 months after plaque surgery, associated with massive
recurrent retinal seeds (Figure 1B).
Initial plan for this recurrence was intra-arterial
chemotherapy versus enucleation, but new MRI showed
extra-scleral invasion at the base of the previously treated
tumor (Figure 2A,B). Therefore enucleation was performed.
At the time of enucleation, gross inspection of the globe
did not show extra-scleral tumor extension or optic nerve
invasion. The bisected eye harbored a grossly amelanotic
tumor measuring 11x4mm. Microscopic examination
revealed a differentiated RB with endophytic growth
pattern associated with minimal choroid invasion and no
optic nerve invasion or extra scleral extension. The RB cells
did not extend into or beyond the sclera, however, there was
another amelanotic growth underneath the RB composed
of proliferation of thin-walled large caliber vessels (dilated
spaces, filled with blood) that had the longest diameter
parallel to the surface of the choroid and penetrated the
sclera. The growth showed positive staining for CD34 and
FLI-1 stains that made it consistent with hemangioma
Click Here to Zoom
|Figure 2: Radiologic findings.
A) Orbit MRI showed a small,
contrast enhancing mass in the
posterior segment of right eye globe,
compatible with clinical features of
recurrent tumor (red arrow).
B) There is a focal defect of the
overlying sclera associated with thin
linear, trans-scleral enhancement
extending to extra-ocular tissue (red
arrow), which shows intermediate
signal on T2WI, similar to the
Click Here to Zoom
|Figure 3: Histopathologic
A) Retinoblastoma (Black
start) overlying another
amelanotic choroidal tumor
(black arrow) that penetrates
the sclera (H&E; x40).
B) This choroidal tumor
(black arrow) exists between
the Retinoblastoma (Star)
and the sclera (Diamond)
and consists of dilated spaces,
lined by flattened endothelium
and filled with blood (H&E;
x100). These cells are positive
for both C) CD34 stain
(IHC; x200) and D) FLI-1
stain (IHC; x100), which is
consistent with hemangioma.
Interestingly, this lesion was at the site of the base of the
tumor corresponding to the suspicious area of trans-scleral
extension seen on MRI, and this had been misinterpreted
on MRI as a RB with extraocular extension. There was no
histological evidence of extraocular or trans-scleral RB,
and the only explanation for the discrepancy between the
MRI findings and the pathology findings was the detected
unexpected hemangioma at this site.
The final histopathologic diagnosis was differentiated
intraocular RB associated with choroidal hemangioma.
Orbit MRI was repeated 3 months after the surgery, and
there was no tumor recurrence.
Orbital extension of RB develops in fewer than 10% of
patients and is associated with a higher mortality rate.
When the tumor is confined to the globe, the 5 year survival
is over 90%, whereas if the tumor extends outside the globe,
the mortality is over 90%(6,7
. This was the basis for the
enucleation decision in this case immediately after the MRI
that showed suspicion of extraocular disease extension.
Based upon the findings of a study of 1543 patients with
a diagnosis of intraocular and/or orbital space occupying
lesions, the differential diagnosis of a lesion involving both
the orbit and the eye includes RB, idiopathic inflammatory
pseudotumor, lymphoma, and Sturge-Weber syndrome8.
The most common concomitant scenario is RB with
orbital extension, even in a patient with Sturge-Weber
syndrome. In a single case in this series, the patient had
RB with intraocular and extraocular extension, and
although he had Sturge-Weber syndrome, there was no
concomitant hemangioma. In our patient, we were looking
pathologically for evidence of extraocular tumor extension
at the site that was seen in MRI. No extraocular extension
by RB was noted in the initial pathologic review of the
sections, and therefore we could not find an explanation
for the MRI finding of scleral invasive RB. However;
upon further pathology review, a hemangioma was noted
corresponding exactly to the site and morphology of the
scleral invasion reported in MRI. Immuno-histochemical
staining confirmed the diagnosis and therefore no further
management was necessary. Full body examination of the
patient failed to show any evidence of hemangiomas, so this
patient did not have Sturge-Weber syndrome.
Choroidal hemangiomas are congenital vascular
hamartomas that have been reported in 2 varieties: solitary
circumscribed hemangiomas, and diffuse hemangiomas.
Riss et al.9 reported a case of a 4-year-old boy with a
diffuse choroidal hemangioma, and without features of
the Sturge-Weber syndrome, which presented as a grayish
intraocular mass with an overlying retinal detachment
associated with orbital mass. The pathologic examination
revealed choroidal hemangioma involving the entire
choroid with an extra-scleral extension. Similarly, Frau et
al.10 reported a case of atypical circumscribed choroidal
hemangioma with retinal detachment in a 41-year-old man
in which ultrasonography showed a hyper-echogenic area
extending through the sclera, and surgical exploration
revealed an extra-scleral hemangioma. Our patient would
have the circumscribed type of choroidal hemangioma with
In conclusion we are reporting a very rare case of
pathologically diagnosed concomitant choroidal
hemangioma with trans-scleral extension in an eye that
harbored active recurrent intraocular RB in a 1-year-old
child. This trans-scleral extension of hemangioma was
misdiagnosed radiologically as extraocular RB and resulted
in enucleation. To our knowledge, this is the first case report
of this unusual association.
CONFLICT of INTEREST
The authors declare no conflict of interest.
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