Tractional retinal detachment and juxtapapillary retinal capillary hemangioma in a 6-year-old girl: A case report.

A 6-year-old girl with visual impairment in the right eye (OD) was referred for an eye evaluation. The fundus of the OD showed a fibrotic orange endophytic lesion located adjacent to the optic disc. In retinal optical coherence tomography, a local tractional retinal detachment and choroidal neovascular membrane were observed together also with the presence of subretinal fluid. Due to the vision of the OD evolved to nonlight perception in the following exam, enucleation was performed. The pathology report was correlated with hemangioblastoma. Herein, we describe a case of a young girl with a retinal hemangioblastoma with quick evolution and without prior systemic diagnosis. Copyright:

Introduction

There are two types of retinal hemangiomas based on clinical and histological characteristics: cavernous hemangioma and capillary hemangioma.[12] Both are vascular hamartomas, which can be found isolated or as a part of syndromes with multisystem involvement, especially the skin and central nervous system (CNS).

The risk of visual impairment depends on the location of the lesion, and this risk may increase with the juxtapapillary localization. Moreover, some mechanisms such as exudation, glial proliferation, or tractional effect on the tumor surface can induce retinal detachment.[345]

The objective of this report is to present a case of retinal detachment caused by a juxtapapillary retinal vascular tumor, in a 6-year-old girl with no prior systemic or family history. According to the literature review, this is a rare form of presentation due to the age of the patient and the acute evolution of a retinal vascular tumor.[6]

Case Report

A 6-year-old girl with a recent visual impairment in her right eye (OD) was referred for a complete eye evaluation. The visual acuity in the first visit was 4/10 in the OD and 10/10 in the left eye (OS). The fundus of the OD showed a fibrotic orange endophytic lesion located adjacent to the optic disc, measuring approximately 4.5 mm [Figure 1]. In the OS, the fundus was normal. Initially, due to the high prevalence of infectious diseases in our country, the first diagnosis to be ruled out was ocular toxocariasis syndrome.

Figure 1

OD fundus retinography with a fibrotic orange endophytic juxtapapillary lesion

Imaging studies, full clinical, and laboratory exams were requested. No changes in the optic nerve and CNS were observed on magnetic resonance imaging (MRI), and the laboratories did not show positive results.

Using retinal optical coherence tomography, a tractional retinal detachment, and a choroidal neovascular membrane were observed together also with the presence of subretinal fluid [Figure 2a and b]. By then, the OD vision had worsened, and a visual acuity of 2/10 was recorded. Intravitreal therapy with anti vascular endothelial growth factor was scheduled, but in the fundus examination with anesthesia before the procedure, a significant size increase of the lesion was observed, so it was decided not to inject or perform a vitrectomy due to the possibility of a malignant tumor.

Figure 2

(a) OD optical coherence tomography, macular tractional detachment, and subretinal fluid. (b) OD optical coherence tomography that shows macular tractional detachment with a choroidal neovascular membrane

To rule out a possible invasion of the optic nerve, a new MRI was requested [Figure 3], the vision of the OD worsened to nonlight perception in the following exam, the biomicroscopy showed cataract and posterior iridian synechiae, the intraocular pressure was 40 mmHg, and the retina was totally detached. Due to the impossibility of visual recovery and a painful eye, enucleation was performed.

Figure 3

Magnetic resonance imaging with a total retinal detachment in the OD

On the macroscopic examination, a white-yellowish mass of 1.1 cm × 0.8 cm was seen [Figure 4a]. Histology report showed a tumor located in the retina, consisting of small vascular structures and stromal cells with clear cytoplasm [Figure 4b]. The report did not show optic nerve invasion. On immunohistochemistry, vascular structures were positive for CD31 and CD34, and the stromal cells were positive for inhibin, NSE, and vimentin [Figure 4c]. With this finding, the diagnosis of hemangioblastoma was done, and the patient was studied by the genetic service. A deletion of Exons 2 and 3 was detected, compatible with the diagnosis of Von Hippel-Lindau (VHL) disease.

Figure 4

(a) Pathology macroscopy examination shows a white-yellowish mass of 1.1 cm × 0.8 cm, and no optic nerve invasion. (b) Histology image with a tumor located in the retina, consisting of small vascular structures, and stromal cells with clear cytoplasm (c) Immunohistochemistry image, vascular structures were positive for CD31

Discussion

VHL disease is caused by the inactivation of the VHL tumor suppressor gene and subsequent dysregulation of hypoxia-induced factor expression, leading to multiple tumors that commonly arise in the retina, cerebellum, spinal cord, or kidney.[7]

The VHL gene is a tumor suppressor gene located on the short arm of chromosome 3 (3p25-p26) and biallelic inactivation. It is governed by the theory of double mutation or double hit: Two alleles must be deactivated. The first blow or inactivation occurs in the germinal cell line and is present in one allele in all cells of the body. The second blow is a somatic alteration of DNA, which is acquired during the life of the patient and is present only in tumor tissue.[7]

In the eye, this disease can cause the presence of capillary hemangiomas. The retinal hemangiomas are a benign proliferation of endothelial cells, pericytes, small blood vessels, and stromal cells. These tumors can be unique or multifocally, commonly peripheral but also in the posterior pole of the retina.[8]

When a tumor occurs near the optic nerve, it is called juxtapapillary retinal capillary hemangioma (JRCH), and it can cause various complications including macular edema, retinal exudation, exudative retinal detachment, or tractional retinal detachment.[34]

Only 2% of patients with VHL disease can debut with an isolated JRCH commonly in the second or third decade of life.[8] JRCHs do not always have the pathognomonic characteristics, and they can simulate papilledema, optic neuritis, choroidal neovascular membrane, and malignant lesions such as medulloepithelioma.[8]

There are treatments for adult patients with JRCH, although little is known about the clinical course in children. The clinical results after laser photocoagulation in children remain unknown, due to this type of hemangioma generally occurs in the older age groups, around 25 years of age. Another alternative is the use of photodynamic therapy (PDT), which is not available in our country yet.

Conclusion

It is important to include vascular tumors as differential diagnoses in juxtapapillary lesions, even in young child. The early detection of genetic carriers of the disease and subsequent regular examinations are essential for the prognosis of patients and their families. This will increase the chances of successful treatment and consequently, a better quality of life for VHL patients.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that their name and initials will not be published, and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.