|Year : 2022 | Volume
| Issue : 4 | Page : 980-983
Childhood IgG4-related orbital disease: A delayed diagnosis
Rachna Meel1, Seema Kashyap2, Meenakshi Wadhwani3, Mandeep S Bajaj1, Sanjay S Sharma4
1 Department of Oculoplasty and Ocular Oncology, All India Institute of Medical Sceinces, New Delhi, India
2 Department of Ocular Pathology, All India Institute of Medical Sceinces, New Delhi, India
3 Pediatric Ophthalmology, Chacha Nehru Bal Chikitsalaya, New Delhi, India
4 Department of Radiology Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sceinces, New Delhi, India
|Date of Submission||03-Mar-2022|
|Date of Acceptance||26-Jul-2022|
|Date of Web Publication||11-Oct-2022|
Dr. Meenakshi Wadhwani
Chacha Nehru Bal Chikitsalya, New Delhi
Source of Support: None, Conflict of Interest: None
IgG4-related disease is a multisystem disorder characterized by tumefactive lesions comprising of IgG4-bearing plasma cells with fibrosis. We report a case of pediatric IgG4-related orbital disease that was diagnosed 12 years after its first clinical manifestation and we present sequential imaging findings of the case.
Keywords: IGg4, inflammatory orbital disease, proptosis
|How to cite this article:|
Meel R, Kashyap S, Wadhwani M, Bajaj MS, Sharma SS. Childhood IgG4-related orbital disease: A delayed diagnosis. Indian J Ophthalmol Case Rep 2022;2:980-3
|How to cite this URL:|
Meel R, Kashyap S, Wadhwani M, Bajaj MS, Sharma SS. Childhood IgG4-related orbital disease: A delayed diagnosis. Indian J Ophthalmol Case Rep [serial online] 2022 [cited 2022 Dec 3];2:980-3. Available from: https://www.ijoreports.in/text.asp?2022/2/4/980/358174
IgG4-related orbital disease (IgG4ROD) is a newly recognized clinical entity characterized by tumefactive lesions that show lympho-plasmocytic infiltrate rich in polyclonal IgG4 plasma cells on histopathological examination (HPE), with or without raised serum IgG4 levels. There are only a few case reports on pediatric IgG4ROD (pIgG4ROD) reported in literature. Herein, we present the clinicoradiological findings of a case of pIgG4ROD over a 12-year duration.
| Case Report|| |
A 24-year-old male presented with diminution of vision (DOV) in the right eye for 15 days. There was history of DOV in the left eye at 12 years of age for which he was seen by an ophthalmologist and neurosurgeon. Clinical records available with the patient, revealed perception of light and complete restriction of extraocular movements (EOM) OS with bilateral proptosis at that time. Incisional biopsy (IB) performed 12 years ago showed fibro-collagenous tissue with multiple foci of lymphoid collection comprising of mature lymphocytes and plasma cells. A diagnosis of inflammatory orbital disease (IOI) was made, and the patient was treated with oral steroids but no clinical improvement was observed. Review of old imaging (contrast-enhanced magnetic resonance imaging [CEMRI]) revealed ill-defined, moderately enhancing mass lesion in the inferior and lateral extraconal spaces of the right orbit, involving the orbital apex and extending to the ipsilateral cavernous sinus, infra-temporal fossa, and masticator space. A similar lesion was noted in the left orbital apex. The lesions were isointense to brain on T1-weighted MRI and markedly hypointense on T2-weighted MRI [Figure 1]a,[Figure 1]b,[Figure 1]c. Post-treatment MRI revealed resolution of intracranial component.
|Figure 1: (a–c) Magnetic resonance imaging (MRI) scan of orbit and brain (T1-weighted, axial and coronal sections, at the time of first symptom 12 years back) showing soft tissue lesions in bilateral orbits with moderate contrast enhancement; (d) clinical photograph at the current presentation, showing bilateral axial proptosis and complete ptosis in left eye; (e and f) contrast-enhanced CT (CECT) scan (coronal and axial scans), done at the time of current presentation showing bilateral orbital masses involving both intraconal and extraconal spaces causing expansion of bony orbit with globe indentation on the left side with bilateral proptosis. Optic nerves and extraocular muscles were not separately identifiable|
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Currently, the patient presented with complaint of slowly progressive DOV OD of 15 days duration. On examination, visual acuity (VA) was 2/60 OD and PL (perception of light) negative OS. There was bilateral axial proptosis with mild limitation of EOM OD and complete external ophthalmoplegia OS [Figure 1]d. Fundus examination showed mild temporal disc pallor OD and primary optic atrophy OU. Color vision was diminished. Contrast-enhanced computed tomography (CECT) scan revealed bilateral orbital masses involving intraconal and extraconal spaces, causing orbital expansion and globe tenting OS [Figure 1]e and [Figure 1]f No intracranial extension was seen. MRI orbit revealed enlargement of the inferior and lateral rectiin right orbit [Figure 2]a,[Figure 2]b,[Figure 2]c. The mass in the left inferior and posterior intraconal orbit extended to the orbital apex where the optic nerve could not be seen separately. The lesion was significantly more hypointense on T2-weighted imaging on the left side [Figure 2]d. CECT scan of the chest and abdomen, serum ANCA, ANA, anti-ds DNA, and rheumatoid factor levels were normal. HPE of IB taken from the right orbit showed sclerotic tissue with hyalinized blood vessels and chronic inflammatory cells, mainly plasma cells [Figure 2]e and [Figure 2]f. On immunohistochemistry, plasma cells were positive for IgG4 (>25/HPF) [Figure 2]i. Serum electrophoresis revealed IgG4, IgG levels, and IgG4/IgG ratio of 24 mg/dl, 1473 mg/dl, and 16.36%, respectively. A diagnosis of probable IgG4ROD was made. Oral steroid was started at a dose of 1mg/kg/day. There was prompt clinical response; VA improved to 6/6 and EOM improved in the right eye after two weeks of treatment. Color vision remained diminished. The steroids were slowly tapered over the next five weeks.
|Figure 2: (a and b) MRI scan (T2-weighted; axial and coronal sections showing extremely hypointense soft tissue lesions in bilateral orbits causing enlargement of inferior and lateral rectus muscles on right and obliteration of all the recti muscles and optic nerve on left side; (c and d) CECT scan (sagittal cut) and MRI (T2-weighted, axial cut) showing that optic nerve cannot be seen separately from the mass lesion; (e and f) histopathology showing sclerotic (collagenous) tissue with hyalinized blood vessels and chronic inflammatory cells, mainly plasma cells; (g–i) post-treatment CECT scan (axial, sagittal, and coronal cut) revealed significant resolution of right retrobulbar mass with reduction in extraocular muscle thickening such that optic nerve could be seen separately from the mass lesion|
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Post-treatment CT scan revealed significant resolution of right retrobulbar mass with reduction in extraocular muscle thickening; optic nerve could now be seen separately from the lesion [Figure 2]g,[Figure 2]h,[Figure 2]i. During four years of follow-up, the patient has had no fresh complaints and his vision is stable.
| Discussion|| |
Despite being an inflammatory pathology, clinical manifestations of IgG4ROD are mainly due to its mass effect, and usually there is no associated pain, redness, or edema. The most common clinical manifestation reported in IgG4ROD is eyelid swelling followed by proptosis.[2–4] Umhera et al. published the comprehensive clinical diagnostic criteria for IgG4ROD. The authors classified IgG4ROD as definite, probable, or possible, based on the presence of histological, clinical, and/or serological evidence. While definite disease requires all three evidences, the disease is labelled as probable if serology is normal, or possible if histology is not characteristic. The present case had probable IgG4ROD; there was clinical and histological evidence but serum IgG4 levels were within normal limit (wnl).
A literature review for pIgG4ROD revealed a handful of cases [summarized in [Table 1]].[6–16] The current case, after initial manifestation in childhood, did not complain of any clinical progression for 12 years. However, a review of imaging showed a progression in disease extent.
The patient presented to us with a recent onset DOV (OD), likely due to the involvement of the orbital apex. On imaging, the lesion was more hypointense in the left orbit compared to the right. This could be due to the difference in duration of the disease. The histopathological patterns described in IgG4 disease are classified as lymphomatous, mixed, and sclerotic. It has been proposed that the histopathological pattern may be altered by the microstructure of the tissue and the age of the lesion.
A review of literature showed that oral steroids were the most common first line treatment used for pIgG4ROD. The current case had a prompt response to oral steroids, both in clinical symptoms and imaging findings. There was a residual defect in color vision that can be explained by longstanding subclinical compression of the optic nerve, or insult sustained during the first episode. Intravenous pulse steroid, mycophenolate mofetil, cyclophosphamide, cyclosporine, methotrexate, and surgical debulking have also been used for treatment. Rituximab (anti-CD20 monoclonal antibody) has recently emerged as a promising treatment for compressive optic neuropathy caused by IgG4ROD.
| Conclusion|| |
To conclude, this case provides a rare insight into the natural course of pIgG4ROD and illustrates that pIgG4ROD may have a delayed diagnosis due to its clinically indolent nature. Early identification and treatment may control disease progression. All cases of pediatric IOI must be investigated to rule out IgG4ROD.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names 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
Conflicts of interest
There are no conflicts of interest.
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