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Erdheim-Chester disease

Author(s)

Korving J, Festhali S

Leiden University Medical Centre,
Radiology;
Albinusdreef 2
2333 ZA Leiden, Netherlands;
Email:j.c.korving@lumc.nl

Patient

female, 46 year(s)

Clinical History

A 46-year-old female patient with a history of diabetes insipidus suspicious for hypophysitis in 2008, complained about overall fatigue, night sweats and muscle aches. Laboratory evaluation revealed a mild leukocytosis and increased erythrocyte sedimentation rate.

Imaging Findings

Initial MR imaging in 2008 showed an enhancing mass of the pituitary stalk (Fig. 1) with a differential diagnosis of hypophysitis, lymphoma, histiocytosis, neurosarcoid and germinoma. Additional contrast-enhanced CT of the chest and abdomen to look for other signs of lymphoma or sarcoid was unremarkable.

Abdominal ultrasound in 2016 demonstrated bilateral perirenal fluid and dilatation of the renal pelvis. Additional CT of the chest and abdomen revealed the presence of pericardial effusion, circumferential infiltration of the thoracic aorta and its main branches (Fig. 2), symmetric soft-tissue infiltration of the perirenal fat, with the presence of “hairy” kidneys, and bilateral adrenal enlargement (Fig 3.).
Because diagnosis of Erdheim-Chester disease was suspected, X-rays of the extremities (Fig. 4a), bone scan (Fig. 4b) and MRI of the orbits (Fig. 5) and the heart (Fig. 6) where made, which all revealed abnormalities compatible with Erdheim-Chester disease.

Discussion

Erdheim-Chester disease (ECD) is a rare form of non–Langerhans cell histiocytosis of unknown origin affecting mainly patients of middle age. It has a slight male predominance. Histologically there is a mixture of tissue infiltration by foamy histiocytes and fibrosis. It is a multisystemic disease and takes an indolent clinical course in some patients and a life-threatening course in others.

Patients may present with general symptoms like fever and weight loss. The most common clinical manifestations are mild bone pain, diabetes insipidus, bilateral exophthalmos and xanthelasmata. Other symptoms depend on organs involved including neurological symptoms, involvement of the cardiovascular system, dyspnoea, and retroperitoneal fibrosis with perirenal and/or ureteral obstruction.

Image characteristics:
- Bones: Symmetric osteosclerosis of the diaphysis and metaphysis of the long bones on X-rays with increased tracer uptake in the lesions on bone scintigraphy. [2]
- Meningeal lesions and multiple enhancing intra-axial masses, best seen on MRI. The location and size of the lesion determine the symptoms. [1]
- Hypothalamic-Pituitary Axis: nodular infundibular stalk mass or absent pituitary bright spot on T1 weighted MR images. [1]
- Orbits: Uni- or bilateral enhancing intraconal masses (30%). [1]
- Lungs: Ground-glass opacities, smooth interlobular septal thickening, centrilobular nodular opacities and pleural thickening or effusions [3].
- Cardiovascular: The most frequent manifestation is periaortic fibrosis with smooth circumferential infiltration of the thoracic and abdominal aorta (“coated aorta”). It frequently spreads around the main aortic branches and can cause renovascular hypertension. Other abnormalities include infiltration of the right heart, which can appear as a pseudo-mass, and pericardial thickening or effusions. [4, 5].
- Renal and perirenal involvement: symmetric, perirenal tissue infiltration that encases the kidneys (“hairy kidney”). In some cases, extension to the renal hilum and proximal ureters causes hydronephrosis. [4, 6] Infiltration may extend upward to the adrenal fossae with associated adrenal hypertrophy.

Diagnosis is usually based on the characteristic histological findings and skeletal abnormalities on X-rays or bone scintigraphy. [5] Because of the low frequency and the broad spectrum of clinical manifestations of this disease, it is easily misdiagnosed. The presence of bone pain and diabetes insipidus, along with characteristic abnormalities on imaging, should raise suspicion for ECD.

In the past treatment options included steroids, radiotherapy, chemotherapy and surgery but none of these treatments showed to improve survival with a mean survival after diagnosis of 19.2 months. In recent years there has been progress with the use of interferon-a and BRAF inhibition with a five-year survival of 68%. [5, 7]

Final Diagnosis

Differential Diagnosis List

References

[1]

Drier A, Haroche J, Savatovsky J et-al. (2010) Cerebral, facial, and orbital involvement in Erdheim-Chester disease: CT and MR imaging findings.. Radiology 255 (2): 586-94
[2]

Dion E, Graef C, Miquel A et al. (2006) Bone Involvement in Erdheim- Chester Disease: Imaging Findings including Periostitis and Partial Epiphyseal Involvement. Radiology Volume 238: 632–639
[3]

Wittenberg K, Swensen S, Myers J (2000) Pulmonary Involvement with Erdheim-Chester Disease: Radiographic and CT Findings. AJR 174:1327–1331
[4]

Cives M, Simone V, Rizzo F et al. (2015) Erdheim–Chester disease: A systematic review. Crit Rev Oncol Hematol 95; 1–11
[5]

Haroche J, Arnaud L, Cohen-Aubart F et al. (2014) Erdheim–Chester Disease. Curr Rheumatol Rep 16:412
[6]

Veyssier-Belot C, Cacoub P, Caparros-Lefebvre D et al. (1996) Erdheim-Chester disease: clinical and radiologic characteristics of 59 cases.. Medicine 75:157-169.
[7]

Arnaud L, Hervier B, Néel A et al. (2011) CNS involvement and treatment with interferon-αare independent prognostic factors in Erdheim-Chester disease: a multicenter survival analysis of 53 patients.. Blood 117(10):2778
[8]

Purysko A, Westphalen A, Remer E et al. (2016) maging Manifestations of Hema- tologic Diseases with Renal and Perinephric Involvement. Radiographics 36:1038–1054

Citation

Korving J, Festhali S (2017, Jun 19).

Erdheim-Chester disease, {Online}.

URL: http://www.eurorad.org/case.php?id=14740

DOI: 10.1594/EURORAD/CASE.14740

ISSN: 1563-4086

Public License

This work is licensed under the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.

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Published 19.06.2017
DOI 10.1594/EURORAD/CASE.14740
Section Cardiovascular
Case Type Clinical Cases
Views 955
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Figure 1
Thick pituitary stalk

a

Department of Radiology, LUMC, Leiden, The Netherlands.

b

Department of Radiology, LUMC, Leiden, The Netherlands.

Coronal MR image after gadolinium administration. A diffuse enhancing pituitary stalk mass.

Area of Interest: Neuroradiology brain; Imaging Technique: MR; Procedure: Contrast agent-intravenous; Special Focus: Endocrine disorders;

Sagittal MR image after gadolinium administration. A diffuse enhancing pituitary stalk mass.

Area of Interest: Neuroradiology brain; Imaging Technique: MR; Procedure: Contrast agent-intravenous; Special Focus: Endocrine disorders;
Figure 2
Pericardial effusion & coated aorta

a

Department of Radiology, LUMC, Leiden. The Netherlands

b

Department of Radiology, LUMC, Leiden. The Netherlands

c

Department of Radiology, LUMC, Leiden. The Netherlands

Coronal CT reconstruction. Pericardial effusion and 'coating' of the ascending aorta.

Area of Interest: Cardiovascular system; Imaging Technique: CT; Procedure: Contrast agent-intravenous; Special Focus: Pathology;

Axial CT with iv contrast. Soft tissue encasement of the aortic arch, the 'coated aorta' appearance.

Area of Interest: Arteries / Aorta; Imaging Technique: CT; Procedure: Contrast agent-intravenous; Special Focus: Pathology;

Axial CT with iv contrast. Soft tissue encasement of the aortic arch branches.

Area of Interest: Vascular; Imaging Technique: CT; Procedure: Contrast agent-intravenous; Special Focus: Pathology;
Figure 3
Hairy kidneys & enlargement of the adrenal glands.

a

Department of Radiology, LUMC, Leiden, The Netherlands

b

Department of Radiology, LUMC, Leiden, The Netherlands

c

Department of Radiology, LUMC, Leiden, The Netherlands

Coronal multiplanar reconstruction. Bilateral soft tissue encasement of the kidneys with bilateral dilatation of the renal pelvis. There is also bilateral infiltration and enlargement of the adrenal glands.

Area of Interest: Kidney; Imaging Technique: CT; Procedure: Contrast agent-intravenous; Special Focus: Dilatation;

Axial CT on the level of the kidneys showing bilateral soft tissue encasement of the kidneys with bilateral dilatation of the renal pelvis.

Area of Interest: Kidney; Imaging Technique: CT; Procedure: Contrast agent-intravenous; Special Focus: Dilatation;

Axial CT on the level of mainly the right adrenal showing infiltration and enlargement of the adrenal glands.

Area of Interest: Adrenals; Imaging Technique: CT; Procedure: Contrast agent-intravenous; Special Focus: Pathology;
Figure 4
Osteosclerosis of the distal femur diaphysis

a

Department of Radiology, LUMC, Leiden, The Netherlands.

b

Department of Radiology, LUMC, Leiden, The Netherlands.

X-rays of the distal femora showing bilateral patchy sclerosis of the distal femur diaphysis and proximal left tibia.

Area of Interest: Extremities; Imaging Technique: Conventional radiography; Procedure: Sclerosis; Special Focus: Pathology;

Bone scintigraphy. Besides bilateral increased uptake in the distal femur and proximal left tibia, there is also slight increased uptake in the proximal right tibia, bilateral in the proximal humerus and mandible.

Area of Interest: Bones; Imaging Technique: Absorptiometry / Bone densiometry; Procedure: Ablation procedures; Special Focus: Pathology;
Figure 5
Bilateral retro-orbital masses

a

Department of Radiology, LUMC, Leiden, The Netherlands.

b

Department of Radiology, LUMC, Leiden, The Netherlands.

MR T1w STIR after gadolinium injection shows bilateral enhancing retro-orbital masses.

Area of Interest: Eyes; Imaging Technique: MR; Procedure: Contrast agent-intravenous; Special Focus: Pathology;

Coronal MR T1 STIR after gadolinium injection shows bilateral enhancing retro-orbital masses.

Area of Interest: Eyes; Imaging Technique: MR; Procedure: Contrast agent-intravenous; Special Focus: Pathology;
Figure 6
Focal thickening of the right atrium

a

Department of Radiology, LUMC, Leiden, The Netherlands.

b

Department of Radiology, LUMC, Leiden, The Netherlands.

Axial cardiac-gated T2 weighted imaging showing pericardial effusion and slight thickening of the free wall of the right atrium.

Area of Interest: Cardiac; Imaging Technique: MR; Procedure: Education; Special Focus: Pathology;

Late-enhancement cardiac MR showing enhancement of the thickened free wall of the right atrium.

Area of Interest: Cardiac; Imaging Technique: MR; Procedure: Education; Special Focus: Pathology;

Figure 1

Thick pituitary stalk

Figure 1a

Coronal MR image after gadolinium administration. A diffuse enhancing pituitary stalk mass.

Figure 1b

Sagittal MR image after gadolinium administration. A diffuse enhancing pituitary stalk mass.

Figure 2

Pericardial effusion & coated aorta

Figure 2a

Coronal CT reconstruction. Pericardial effusion and 'coating' of the ascending aorta.

Figure 2b

Axial CT with iv contrast. Soft tissue encasement of the aortic arch, the 'coated aorta' appearance.

Figure 2c

Axial CT with iv contrast. Soft tissue encasement of the aortic arch branches.

Figure 3

Hairy kidneys & enlargement of the adrenal glands.

Figure 3a

Coronal multiplanar reconstruction. Bilateral soft tissue encasement of the kidneys with bilateral dilatation of the renal pelvis. There is also bilateral infiltration and enlargement of the adrenal glands.

Figure 3b

Axial CT on the level of the kidneys showing bilateral soft tissue encasement of the kidneys with bilateral dilatation of the renal pelvis.

Figure 3c

Axial CT on the level of mainly the right adrenal showing infiltration and enlargement of the adrenal glands.

Figure 4

Osteosclerosis of the distal femur diaphysis

Figure 4a

X-rays of the distal femora showing bilateral patchy sclerosis of the distal femur diaphysis and proximal left tibia.

Figure 4b

Bone scintigraphy. Besides bilateral increased uptake in the distal femur and proximal left tibia, there is also slight increased uptake in the proximal right tibia, bilateral in the proximal humerus and mandible.

Figure 5

Bilateral retro-orbital masses

Figure 5a

MR T1w STIR after gadolinium injection shows bilateral enhancing retro-orbital masses.

Figure 5b

Coronal MR T1 STIR after gadolinium injection shows bilateral enhancing retro-orbital masses.

Figure 6

Focal thickening of the right atrium

Figure 6a

Axial cardiac-gated T2 weighted imaging showing pericardial effusion and slight thickening of the free wall of the right atrium.

Figure 6b

Late-enhancement cardiac MR showing enhancement of the thickened free wall of the right atrium.

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