|Year : 2018 | Volume
| Issue : 4 | Page : 268-271
An unusual Erdheim–Chester disease with bilateral orbital involvement and diabetes insipidus: a case report
Mohamed A.I Eldesouky
Oculoplastic Unit, Ophthalmology Department, Faculty of Medicine, Tanta University, Tanta, Egypt
|Date of Submission||23-Mar-2018|
|Date of Acceptance||24-Jul-2018|
|Date of Web Publication||20-Dec-2018|
Mohamed A.I Eldesouky
Tanta University Eye Hospital, Dr Nagaty Street, Tanta 31527
Source of Support: None, Conflict of Interest: None
Case report A 39-year-old man presented with proptosis, disk edema, and extraocular muscle restrictions. He was suspected of having systemic lymphoma and had already been submitted to retroperitoneal biopsy; however, the diagnosis was still uncertain. The patient was evaluated by computed tomography and MRI of the orbit. Orbital pseudotumor was suspected and a biopsy of the orbital lesion initially failed to provide the correct diagnosis which was only made after detailed analysis of the clinical and imaging findings and review of the histopathologic studies. The systemic diagnosis was made after the orbital diagnosis although the patient had been extensively investigated for more than 1 year. Erdheim–Chester disease is a rare idiopathic systemic condition characterized by a xanthogranulomatous process involving the retroperitoneum, heart, lungs, bone, and other tissues. The condition is often fatal due to renal or cardiovascular complications. Ocular findings are rare but may be very helpful for the diagnosis. Therefore, ophthalmologists should be aware about the clinical manifestations and imaging findings of this rare disease in order to establish an early diagnosis.
Keywords: case report, Langerhans cell histiocytosis, magnetic resonance imaging, orbit/radiography, orbital diseases, xanthomatosis, radiographic computed tomography
|How to cite this article:|
Eldesouky MA. An unusual Erdheim–Chester disease with bilateral orbital involvement and diabetes insipidus: a case report. Delta J Ophthalmol 2018;19:268-71
|How to cite this URL:|
Eldesouky MA. An unusual Erdheim–Chester disease with bilateral orbital involvement and diabetes insipidus: a case report. Delta J Ophthalmol [serial online] 2018 [cited 2021 Dec 3];19:268-71. Available from: http://www.djo.eg.net/text.asp?2018/19/4/268/248081
| Introduction|| |
Erdheim–Chester disease (ECD) is a rare disease of unknown etiology characterized by multisystem involvement of infiltration of tissues by lipid-laden histiocytes . Patients usually present with bone pain in the fourth to fifth decade of life. This disease is characterized by typical radiologic findings of bilateral and symmetric sclerosis of the diaphysis and metaphysis of the tubular bones with sparing of the axial skeleton . The most frequent central nervous system manifestations of the ECD are diabetes insipidus, cerebellar syndromes, orbital lesions, and extra-axial dural masses . Infiltration of retro-orbital tissues may lead to exophthalmos, double vision, and ocular motility problems .
In 2013, a 39-year-old man was hospitalized for proptosis and visual deterioration of his right eye. His pathological history was characterized by diabetes insipidus since 8 years. On examination, his best-corrected visual acuity was 20/100 in the right eye (OD) and 20/20 in the left eye (OS). He had bilateral proptosis. Exophthalmometry (Hertel base 98) was 33 mm OD and 22 mm OS ([Figure 1]). The eyes were aligned in the primary position but there was marked restriction of elevation, adduction, and abduction of the right eye. Slit lamp examination, pupillary reactions, and intraocular pressure measurements were normal. Fundoscopy showed mild optic disk edema in the right eye. The initial diagnosis was of an idiopathic orbital inflammatory disease but there was no correlation with the clinical picture due to the lack of pain and inflammatory signs in the orbit as well as with the systemic involvement of the condition. MRI disclosed diffuse infiltration of the right orbit with a hypointense lesion in T1-weighted and T2-weighted images. The left orbit showed a similar lesion but of a much smaller size. The right orbit showed evident ballooning ([Figure 2]).
The patient was submitted to a biopsy of the orbital lesion on the right side, through an anterior orbitotomy with a transconjunctival incision. A gritty sensation due to massive fibrosis of the orbital lesion and its minimal vascularity were observed at surgery. The pathologic study of the incisional biopsy showed many lipid-laden histiocytes forming groups of xanthoma cells separated by dense, fibrotic septa that were found replacing most of the orbital adipose tissues. There was also focal infiltration of lymphocytes, plasma cells, and Touton giant cells throughout the tissue ([Figure 3]) suggesting the high probability of diagnosis of ECD. The orbital lesion remained unchanged but the patient developed rapidly progressive exposure keratopathy in his right eye. Corneal melting was successfully managed with amniotic membrane transplantation ([Figure 4]).
|Figure 3 Histopathology specimen showing (a) many lipid-laden histiocytes forming groups of xanthoma cells separated by dense fibrotic septa with focal infiltration of lymphocytes, plasma cells, and Touton giant cells. (b) Massive fibrosis and minimal vascularity of the lesion. Original magnification, hematoxylin and eosin, ×100.|
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The patient was lost for follow-up for about 4 years. In October 2017, he presented with marked proptosis of his left eye almost to the same degree as the right, despite the many trials of steroids, immunosuppressives, and immunomodulators during this interval ([Figure 5]). Surprisingly, there was a marked regression of the right eye proptosis. MRI at that time disclosed diffuse infiltration of both orbits with hypointense lesions in T1-weighted and T2-weighted images of almost the same size ([Figure 6]).
|Figure 5 The patient in 2017 with marked progression of the left proptosis.|
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|Figure 6 MRI T2 showing marked increase in size of the left orbital mass.|
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| Discussion|| |
ECD is a condition termed by Jaffe in 1972 to describe a systemic disease that was first reported by Chester and Erdheim in 1930. It is now recognized to be an adult onset idiopathic systemic disorder with involvement of the viscera, bone, subcutaneous tissues, and by a sclerosing xanthogranulomatous process. The condition is often fatal due to renal or cardiovascular complications ,.
Alper et al.  described for the first time orbital involvement in two patients with ECD. Since this description, 23 other patients have been reported in the literature ,,,,,,. Orbital involvement is characterized by broad sheets of fat-loaded histiocytes xanthoma cells with scattered foci of chronic inflammatory cells, mostly lymphocytes and plasma cells. There is also fibrosis and multinucleated giant cells in the xanthogranulomatous infiltration . Such involvement can lead to the clinical findings of proptosis, extraocular muscle restriction, disk edema, optic atrophy, retinal striae, and yellowish infiltration of the lid skin .
The differential diagnosis of ECD in the orbit is extensive and includes dysthyroid orbitopathy, idiopathic orbital inflammation, lymphoma, metastatic carcinoma, and Langerhans cell histiocytosis. None of these conditions is typically associated with the clinical, radiological, laboratory, and histopathological findings of our patient. Imaging is also very important as an auxiliary method for early diagnosis of orbital ECD, although, to date, no specific pattern of involvement has been defined. Computed tomographic scan usually shows a diffuse infiltration of the orbit and eyelids. The same finding can be observed on MRI that shows hypointense lesions on T1- weighted and T2-weighted images. These imaging findings can lead to confusion with nonspecific inflammation of the orbit. However, in most cases of ECD involvement of the orbit is very extensive and there is characteristically absence of pain and inflammatory signs, which helps in the differentiation of this condition from nonspecific orbital inflammation. Sarcoidosis should also be excluded by its associated systemic and laboratory findings .
Three points were unusual for us in our patient. First, apart from diabetes insipidus there was no other neurological, visceral, subcutaneous, and bone changes. Second, there was marked ballooning of the orbit which is not a common finding in adult onset lesions. Third, in the last visit he had marked regression of the right proptosis and at the same time marked progression of the left eye proptosis.
The prognosis for survival is usually poor and dependent on the extent of visceral involvement. Most patients die because of congestive heart failure, lung fibrosis, or renal insufficiency.
Treatment with corticosteroids, radiotherapy, or chemotherapy is frequently not effective and the disease usually progresses . Failure to respond to these treatment modalities may be related to the fact that the majority of patients are diagnosed late in the course of the disease. For example, in the present patient, the diagnosis was not made until 8 years later despite being submitted to extensive clinical and imaging evaluations for his proptosis and diabetes insipidus, at least 8 years ago. The delay in the diagnosis may have in some way contributed to his unfortunate outcome. The diagnosis was established only after the clinical suspicion, based on the presence of proptosis, absence of orbital pain, and diabetes insipidus. Central diabetes insipidus is the most common of all central nervous system manifestations in ECD. It should be noted that histiocytosis-associated diabetes insipidus appears early in the natural history of these diseases in general and in ECD in particular .
Valmaggia et al.  have recently reported one patient whom he diagnosed early in the course of the disease with a much better outcome in a 3-year follow-up period. Therefore, it is possible that the timing for initiating appropriate therapy may be decisive for the course of the disease.
| Conclusion|| |
ECD is a rare systemic condition characterized by a xanthogranulomatous process involving the retroperitoneum, heart, lungs, bone, and other tissues. Diabetes insipidus is a common and early finding in the course of the disease. The condition is often fatal due to renal or cardiovascular complications. Ocular findings are rare but may be very helpful for the diagnosis. Therefore, ophthalmologists should be aware of the clinical manifestations and imaging findings of this rare disease in order to establish an early diagnosis. Transconjunctival incisional biopsy is a minimally invasive technique and very helpful in establishing the diagnosis.
This case study was presented in the last Annual Delta Meeting in February 2018.
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Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]