Background: Patients with Erdheim-Chester disease (ECD) exhibit various symptoms and have a poor prognosis with a 5 year survival rate of 36-83%. The clinical and histopathological findings of ECD are similar to those of IgG4-related ophthalmic disease. Therefore, it is crucial to differentiate between these two clinical entities.
Case: A 56-year-old man visited a local ophthalmologist for blurred vision in both eyes and color difference between the right and left eyes. The ophthalmologist identified bilateral papilledema and performed head magnetic resonance imaging (MRI). The results indicated bilateral intraorbital mass lesions and enlarged extraocular muscles. Therefore, the patient was referred to the Department of Ophthalmology, Tokyo Medical University Hospital. His initial examination revealed a best corrected visual acuity of 1.2 in both eyes, chorioretinal folds and redness and swelling of the optic nerve head in both eyes, bilateral symmetrical swelling of the upper eyelids, and enlarged submandibular glands. Although a biopsy of the orbital lesion in the right eye was performed based on the suspicion of IgG4-related ophthalmic disease, a definitive diagnosis could not be made because a sufficient amount of samples could not be obtained owing to severe intraoperative hemorrhage. Further, positron emission tomography-computed tomography (PET-CT) scan revealed abnormal accumulations in the bilateral multiple bones, pericardium, bilateral kidneys, and perirenal retroperitoneum. Meanwhile, bone scintigraphy image revealed bilateral symmetrical abnormal accumulations in the distal femur, proximal tibia, skull, and pelvic bones. Finally, the patient was diagnosed with ECD based on the results of genetic tests and histopathological examination of the biopsy sample obtained from the tibia and perirenal retroperitoneum.
Conclusion: ECD should be considered as a differential diagnosis of IgG4-related ocular disease, although it is rare.
Nippon Ganka Gakkai Zasshi (J Jpn Ophthalmol Soc) 128: 127-134, 2024.