J Korean Ophthalmol Soc.  2014 Feb;55(2):283-288. 10.3341/jkos.2014.55.2.283.

A Case of Erdheim-Chester Disease with Diplopia

• Kim SE
• Kim SY
• Kim KH

• KMID: 2218424
• DOI: http://doi.org/10.3341/jkos.2014.55.2.283

Abstract

PURPOSE
We present a case of Erdheim-Chester disease (ECD) with diplopia.
CASE SUMMARY
A 56-year-old woman came to the hospital with a 6-week history of diplopia on left lateral gaze. The right eye showed mildly limited adduction. Humphrey automated perimetry demonstrated inferior bitemporal quadrantanopia. Orbital and brain magnetic resonance imaging revealed well-defined orbital masses in both intraconal orbits with homogenous enhancement, as well as multiple masses of homogenous signal intensity in the brain. Systemic evaluation showed involvement of the long bones, and retroperitoneum, but no involvement of the heart, or lungs. Incisional biopsy of the right orbital mass was performed. Histopathological examination showed numerous lipid-laden histiocytes and few multinucleated Touton giant cells. Immunohistochemical staining showed positivity for CD68, but negativity for CD1a, and ECD was therefore diagnosed. The patient received treatment with radiation therapy and interferon-alpha, but died due to sepsis secondary to urinary tract infection after 2 months.
CONCLUSIONS
Except exophthalmos, diplopia may be the only initial symptom of an orbital mass. Although rare, the possibility of ECD should be considered in the differential diagnosis of both retrobulbar and orbital masses with diplopia.

Keyword

Diplopia; Erdheim-Chester disease; Orbital tumor; Retrobulbar mass

MeSH Terms

Biopsy
Brain
Diagnosis, Differential
Diplopia*
Erdheim-Chester Disease*
Exophthalmos
Female
Giant Cells
Heart
Hemianopsia
Histiocytes
Humans
Interferon-alpha
Lung
Magnetic Resonance Imaging
Middle Aged
Orbit
Sepsis
Urinary Tract Infections
Visual Field Tests
Interferon-alpha

Figure

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  Figure 1. Nine cardinal photographs at the first visit showing mild limitation of adduction of the right eye and no definitive exophthalmos.

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  Figure 2. Humphrey automated perimetry at first visit demonstrated inferior bitemporal quadrantanopia.

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  Figure 3. Postcontrast T1-weighted axial (A) and coronal (B) orbital MRI showed homogenous enhancement of both round retrobulbar masses. T1-weighted axial and sagittal Brain MRI demonstrated multiple masses of homogenous signal intensity in the falx cerebrum, pituitary stalk, lower aspect of tentorium cerebelli and choroid plexus (C-H). (I) Anteroposterior radiograph of the both tibiae showed diffuse increased density and trabecular pattern at the metaphyseal regions of both proximal tibiae. (J) Technetium-99m HDP bone scintigraphy showed increased symmetric uptake in the both proximal and distal humerus, both proximal radii and ulnae, both distal femurs, both proximal and distal tibiae, and T11 vertebra. (K) Dynamic abdominal CT demonstrated retroperitoneal fibrosis and bilateral hydronephrosis secondary to bilateral ureteral obstruction, circumferential periaortic sheathing of the abdominal aorta and symmetrical infiltration of the perirenal fat and of the perirenal fascia taking the appearance of ‘hairy kidneys’.

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  Figure 4. Histopathological examination showed (A) numerous foamy histiocytes (H-E stain, ×200) and (B) few multinucleated Touton giant cells (H-E stain, ×400). Immunohistochemical staining showed strong positivity for (C) CD68, but negativity for (D) CD1a (×200).

Reference

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