DOI: 10.1148/radiol.2341021806
(Radiology 2005;234:111-115.)
Case 78: Erdheim-Chester Disease with Central Nervous System Involvement1
Carmen Adem, MD,
Olivier Hélie, MD,
Christophe Lévêque, MD,
Hervé Taillia, MD and
Yves-Sébastien Cordoliani, MD
1 From the Departments of Radiology (C.A., O.H., C.L., Y.S.C.) and Neurology (H.T.), Hôpital d’Instruction des Armées du Val-de-Grâce, 74 boulevard de Port Royal, F-75005 Paris, France. Received December 20, 2002; revision requested February 28, 2003; revision received April 17; accepted August 6. Address correspondence to C.A. (e-mail: valimage@wanadoo.fr).
 |
HISTORY
|
|---|
A 26-year-old man was referred for cranial magnetic resonance (MR) imaging after occurrence of a first epileptic seizure. He had no history of diabetes insipidus. Clinical examination did not reveal any cranial nerve deficit. Skeletal radiographs were obtained the day after MR imaging. Only radiographs of the lower extremities showed abnormalities.
No abnormalities were noted on chest and abdominopelvic computed tomographic scans.
|
IMAGING FINDINGS
|
|---|
The MR images showed high-signal-intensity abnormalities on fluid-attenuated inversion-recovery images involving the cerebellar tonsils, pons, cerebral peduncles, mamillary bodies, uncus, hippocampus, parahippocampal gyrus, and columns of the fornix (Fig 1). As for the pituitary stalk, these lesions correspond to low-signal-intensity abnormalities on T1-weighted images, with heterogeneous enhancement after administration of a 0.1-mmol/kg dose of gadolinium chelate (Magnevist; Schering, France) (Figs 2, 3).
View larger version (166K):
[in this window]
[in a new window]
[Download PPT slide]
|
Figure 1a. Transverse fluid-attenuated inversion-recovery weighted MR images (repetition time msec/echo time msec, 8802/147; inversion time msec, 2200) show high signal intensity of the (a) pons (arrow) and (b) mamillary bodies, column of fornix (short arrow), both unci, parahippocampal gyri, hippocampi (long arrows), and left cerebral peduncle (arrowhead).
|
|
View larger version (166K):
[in this window]
[in a new window]
[Download PPT slide]
|
Figure 1b. Transverse fluid-attenuated inversion-recovery weighted MR images (repetition time msec/echo time msec, 8802/147; inversion time msec, 2200) show high signal intensity of the (a) pons (arrow) and (b) mamillary bodies, column of fornix (short arrow), both unci, parahippocampal gyri, hippocampi (long arrows), and left cerebral peduncle (arrowhead).
|
|
View larger version (183K):
[in this window]
[in a new window]
[Download PPT slide]
|
Figure 2a. Sagittal T1-weighted fast spin-echo MR images obtained through the midline (a) before (400/9) and (b) after (360/9) administration of gadolinium-enhanced contrast material. (a) Note increased size of pituitary stalk (arrow) and normal high signal intensity of the posterior pituitary gland (arrowhead). (b) Note heterogeneous enhancement of the pons (long arrow), cerebellar tonsil (short arrow), and pituitary stalk.
|
|
View larger version (190K):
[in this window]
[in a new window]
[Download PPT slide]
|
Figure 2b. Sagittal T1-weighted fast spin-echo MR images obtained through the midline (a) before (400/9) and (b) after (360/9) administration of gadolinium-enhanced contrast material. (a) Note increased size of pituitary stalk (arrow) and normal high signal intensity of the posterior pituitary gland (arrowhead). (b) Note heterogeneous enhancement of the pons (long arrow), cerebellar tonsil (short arrow), and pituitary stalk.
|
|
View larger version (152K):
[in this window]
[in a new window]
[Download PPT slide]
|
Figure 3a. Transverse T1-weighted fast spin-echo MR images (360/6) obtained at the level of the parahippocampal gyrus. (a) Unenhanced image shows increased size of the right mamillary body and columns of fornix. (b) Gadolinium-enhanced image shows enhancement of the right column of fornix (short arrow), right uncus, and parahippocampal gyrus (long arrow).
|
|
View larger version (152K):
[in this window]
[in a new window]
[Download PPT slide]
|
Figure 3b. Transverse T1-weighted fast spin-echo MR images (360/6) obtained at the level of the parahippocampal gyrus. (a) Unenhanced image shows increased size of the right mamillary body and columns of fornix. (b) Gadolinium-enhanced image shows enhancement of the right column of fornix (short arrow), right uncus, and parahippocampal gyrus (long arrow).
|
|
Radiographs of the knees (Fig 4) showed bilateral and symmetric patchy diametaphyseal medullary sclerotic lesions with sharp margins that involved the femurs, tibias, and fibulas.
View larger version (142K):
[in this window]
[in a new window]
[Download PPT slide]
|
Figure 4a. (a) Anteroposterior and (b) lateral radiographs of both knees show bilateral and symmetric patchy diametaphyseal medullary sclerotic lesions with sharp margins that involve the femurs (upper arrow), tibias (lower arrow), and fibulas (arrowheads).
|
|
View larger version (134K):
[in this window]
[in a new window]
[Download PPT slide]
|
Figure 4b. (a) Anteroposterior and (b) lateral radiographs of both knees show bilateral and symmetric patchy diametaphyseal medullary sclerotic lesions with sharp margins that involve the femurs (upper arrow), tibias (lower arrow), and fibulas (arrowheads).
|
|
|
DISCUSSION
|
|---|
The key to diagnosing Erdheim-Chester disease is recognizing the typical pattern of symmetric diametaphyseal medullary sclerotic lesions of the appendicular skeleton.
Erdheim-Chester disease is a rare sporadic systemic histiocytic disorder of unknown cause. In 1930, Chester reported two cases of what he referred to as "lipoidgranulomatosis." Two patients had symmetric sclerosis at the diamataphyseal portions of the lower extremities, with additional extraskeletal involvement in one (1). Additional cases have been reported (2,3).
Erdheim-Chester disease must be differentiated from Hand-Schüller-Christian disease, which occurs in childhood and is characterized by bone lesions, exophtalmos, and central diabetes insipidus.
Erdheim-Chester disease has distinctive radiologic and pathologic features and is not a Langerhans form of histiocytosis (3). Distinction between Erdheim-Chester disease and Langerhans cell histiocytosis can be difficult at light microscopy. Both lesions consist of multinucleated giant cells and histiocytes (1). In fact, in our patient, surgical bone biopsy was performed in the anterior aspect of the left tibia, and multinucleated giant cells and histiocytes were found. Histiocytes refer to either macrophages (antigen-processing cells) or dendritic cells (antigen-presenting cells) (4). Differential diagnosis is based on immunohistochemistry; CD1a and CD68 are specific markers for Langerhans cells and Erdheim-Chester disease, respectively. For our patient, the CD68 marker was positive for Erdheim-Chester disease, while the CD1a marker was negative for Langerhans cells. At electron microscopy, intracytoplasmic Birbeck granules are present in Langerhans cell histiocytosis (1,4). Although the pathogenesis of Erdheim-Chester disease remains unclear, a recent study suggested its neoplastic nature is due to monoclonal proliferation of histiocytes. This finding does not support the hypothesis of primary metabolic or storage lipid disorder or reactive nonspecific inflammatory phenomenon (4).
Age at diagnosis ranges from 7 to 84 years (mean age, 53 years ± 14) with a male-to-female ratio of 1:3 (2). Clinical manifestations range from asymptomatic or minimally symptomatic bone pain or hypopituitarism to severe multisystem involvement (3).
The xanthogranulomatous process can infiltrate more than just bone tissue; for instance, this process can infiltrate the central nervous system, orbits, viscera, retroperitoneum, and superficial soft tissues.
Central nervous system involvement may be revealed by diabetes insipidus, cerebellar syndrome, exophthalmos due to retroorbital masses, and symptoms consistent with extraaxial masses (3). Although the pituitary stalk was involved, our patient did not have diabetes insipidus. The seizure was explained by abnormalities involving both hippocampi and was treated with antiepileptic drugs.
Acquired causes of central diabetes insipidus are due to infiltration of the hypothalamic-pituitary axis by granulomatous disease, such as tuberculosis, sarcoidosis, and Langerhans cell disease, or by metastases via hematogenous (breast carcinoma, lung carcinoma, and lymphoma) or cerebrospinal fluid (ependymoma and germinoma) spread (5). The distinctive pattern of symmetric osteosclerotic findings in the lower limbs, however, suggests a diagnosis of Erdheim-Chester disease.
The occurrence of persistent enhancement of extraaxial parasagittal cerebral masses 8 days after administration of gadolinium-based contrast medium was described by Tien et al (6). The precise mechanism is unknown, but it could be characteristic of abnormal gadolinium retention by histiocytes. In our patient, MR imaging of the head was performed 6 days after administration of gadolinium-enhanced contrast material, and a slight persistent enhancement of the pons was observed (Fig 5).
View larger version (133K):
[in this window]
[in a new window]
[Download PPT slide]
|
Figure 5. Transverse T1-weighted fast spin-echo MR image (360/9) obtained 6 days after administration of gadolinium-based contrast material at the same level as Figure 3 shows slight persistent enhancement of the right column of the fornix (short arrow) and unci (long arrows).
|
|
Retro-orbital involvement ranges from perineural infiltration to diffuse masses associated with exophthalmia (7). Retroperitoneal fibrotic encasement can lead to hydronephrosis, chronic renal failure, and hypertension (8,9). Pulmonary involvement includes an interstitial process that leads to severe lung disease, while cardiac involvement of the pericardium, heart walls, or both can cause cardiac failure. Xanthomas can be found at any location on the skin, especially on the eyelids (10).
Treatment options are varied and include corticosteroids, chemotherapy, radiation therapy, immunotherapy, and surgery (3,8–10).
|
FOOTNOTES
|
|---|
Authors stated no financial relationship to disclose.
|
REFERENCES
|
|---|
- Kenn W, Eck M, Allolio B, et al. Erdheim-Chester disease: evidence for a disease entity different from Langerhans cell histiocytosis? three cases with detailed radiological and immunohistochemical analysis. Hum Pathol 2000; 31:734-739.[CrossRef][Medline]
- Veyssier-Belot C, Cacoub P, Caparros-Lefebvre D, et al. Erdheim-Chester disease: clinical and radiologic characteristics of 59 cases. Medicine 1996; 75:157-169.[Medline]
- Wright RA, Hermann RC, Parisi JE. Neurological manifestations of Erdheim-Chester disease. J Neurol Neurosurg Psychiatry 1999; 66:72-75.[Abstract/Free Full Text]
- Chetritt J, Paradis V, Dargere D, et al. Chester-Erdheim disease: a neoplastic disorder. Hum Pathol 1999; 30:1093-1096.[CrossRef][Medline]
- Tien R, Kucharczyk J, Newton TH, Citron JT, Duffy TJ. MR of diabetes insipidus in a patient with Erdheim-Chester disease: case report. AJNR Am J Neuroradiol 1990; 11:1267-1270.[Medline]
- Tien RD, Brasch RC, Jackson DE, Dillon WP. Cerebral Erdheim-Chester disease: persistent enhancement with Gd-DTPA on MR images. Radiology 1989; 172:791-792.[Abstract/Free Full Text]
- Martinez R. Erdheim-Chester disease: MR of intraaxial and extraaxial brain stem lesions. AJNR Am J Neuroradiol 1995; 16:1787-1790.[Abstract]
- Gomez C, Diard F, Chateil JF, Moinard M, Dousset V, Rivel J. Imaging of Erdheim-Chester disease. J Radiol 1996; 77:1213-1221.[Medline]
- Bancroft LW, Berquist TH. Erdheim-Chester disease: radiographic findings in five patients. Skeletal Radiol 1998; 27:127-132.[CrossRef][Medline]
- Veyssier-Belot C, Wechsler J, Cacoub P. Erdheim-Chester disease: survey of a rare non-Langerhans histiocytosis. J Fr Ophtalmol 1997; 20:331-332.[Medline]
Congratulations to the 106 individuals who submitted the most likely diagnosis (Erdheim-Chester disease) for Diagnosis Please, Case 78. The names and locations of the individuals, as submitted, are as follows:
- Hisashi Abe, Osaka, Japan
- Manzoor Ahmed, MD, University Heights, Ohio
- Dr Jorge Ahualli, Tucuman, Argentina
- Okan Akinci, MD, Istanbul, Turkey
- Canan Altay, MD, Izmir, Turkey
- Albert J. Alter, Madison, Wis
- Ramos Amador Andres, Madrid, Spain
- A. Anbarasu, MD, DNB, FRCR, Coventry, United Kingdom
- Rajesh Annamalaisamy, Oldham, United Kingdom
- Roger Antonelli, MD, Dayton, Ohio
- Ella Benoza, MD, Mountain View, Calif
- Mahmut Beser, MD, Istanbul, Turkey
- Eric L. Bressler, MD, Minnetonka, Minn
- Daniel F. Broderick, MD, Jacksonville, Fla
- Michael P. Buetow, MD, Okemos, Mich
- Raymond F. Carmody, MD, Tucson, Ariz
- Antonio Cavalcanti, MD, Sao Paulo, Brazil
- Haris Chrysikopoulos, MD, Kerkyra, Greece
- David A. Cory, MD, South Bend, Ind
- Marc G. de Baets, MD, Lugano, Switzerland
- Wagner Diniz de Paula, MD, Brasilia, Brazil
- J. F. K. de Villiers, Gisborne, New Zealand
- Jacques Demers, MD, La Pocatière, Quebec, Canada
- Mustafa Kemal Demir, MD, Istanbul, Turkey
- Shella Farooki, MD, Dublin, Ohio
- Marta Fité Grau, Barcelona, Spain
- Ricardo B. Fonseca, MD, Nashville, Tenn
- Akira Fujikawa, Tokyo, Japan
- Ann S. Fulcher, MD, Richmond, Va
- Roberto Garcia Figueiras, MD, Santiago de Compostela, Spain
- Mark Goldshein, MD, Andover, Mass
- Alvaro Gomez Naar, Salta, Argentina
- Aleksandar Grgic, MD, Homburg, Germany
- Dan Gridley, MD, Goodyear, Ariz
- Ferris M. Hall, MD, Boston, Mass
- Yukihiro Hama, MD, Tokorozawa, Japan
- Dr Andreas Harzheim, Cologne, Germany
- Alfred L. Horowitz, MD, Asheville, NC
- Alberto Iaia, MD, Wilmington, Del
- Shinichi Kan, MD, Kanagawa, Japan
- Kamil Karaali, MD, Antalya, Turkey
- Katsuhiko Kato, MD, PhD, Nagoya, Japan
- Nurettin Katranci, MD, Antalya, Turkey
- Nabil J. Khoury, MD, Beirut, Lebanon
- Eung Yeop Kim, MD, Seoul, Korea
- Jacobo Kirsch, MD, Cleveland, Ohio
- Stefanos Lachanis, MD, Athens, Greece
- Mario Laguna, West Allis, Wis
- James F. Lally, MD, Newark, Del
- John T. Lim, MD, Newport Coast, Calif
- Jaume Llauger, Barcelona, Spain
- Walter Mak, MD, Peoria, Ill
- John A. Mattingly, MD, Belleville, Ill
- Frank McKowne, MD, Vancouver, Wash
- Manabu Minami, MD, Ibaraki, Japan
- Sankar Ranjan Mondal, MD, Nassau, Bahamas
- Eduardo Mondello, MD, Buenos Aires, Argentina
- Tetsuo Nakayama, MD, Osaka, Japan
- Tammam Nehme, East Wenatchee, Wash
- Karl F. R. Neufang, MD, Euskirchen, Germany
- Mike O’Loughlin, MD, West Hartford, Conn
- Sanford M. Ornstein, MD, Phoenix, Ariz
- David Ozretic, Cakovec, Croatia
- Maria Olga Patino, MD, Houston, Tex
- Clinton Pinto, MBChB, Tauranga, New Zealand
- Hilton Pittman, Pensacola, Fla
- Mario P. Pliego, MD, Bloomington, Minn
- Prashant Raghavan, Charlottesville, Va
- Karthikram Raghuram, Charlottesville, Va
- Anuradha T. N. Rao, Toronto, Ontario, Canada
- Daniel Rappaport, MD, FRCPC, Toronto, Ontario, Canada
- James Ravenel, MD, Charleston, SC
- Denis M. Regent, Vandoeuvre les Nancy, France
- Enrique Remartinez Escobar, MD, Melilla, Spain
- Matt Rheinboldt, Nashville, Tenn
- Randall Rhodes, MD, Belvidere, Ill
- Jeffrey S. Ross, MD, Cleveland, Ohio
- Kris Saadeh, Mount Pleasant, SC
- Dr Mourad Said, Sousse, Tunisia
- Dr Luis San Román Manzanera, Barcelona, Spain
- Jean-Luc Sarrazin, Neuilly Sur Seine, France
- Stephen I. Schabel, MD, Charleston, SC
- R. Epstein Schwartzberg, San Diego, Calif
- Mustafa Secil, MD, Izmir, Turkey
- Ritu Shah, MD, Birmingham, Ala
- Dr Sandip R. Shah, Ahmedabad, India
- Matt Shapiro, MD, Charlottesville, Va
- Taro Shimono, MD, Osaka, Japan
- David Sobel, MD, La Jolla, Calif
- Kouichi Sugiyama, Hamamatsu, Japan
- Douglas L. Teich, MD, Brookline, Mass
- Kazuma Terauchi, MD, Osaka, Japan
- Eugene Tong, MD, Austin, Tex
- Meric Tuzun, Ankara, Turkey
- Hiroyuki Ueda, Kyoto, Japan
- Rafael Valls, MD, St Quirze Valles, Spain
- Piet Vanhoenacker, MD, Aalst, Belgium
- Joan C. (Kai) Vilanova, MD, Girona, Spain
- Christopher Vittore, MD, Rockford, Ill
- Stefan Weidauer, MD, Frankfurt, Germany
- Hsu-Huei Weng, MD, MPH, Chia-Yi, Taiwan
- Howard C. Williams, MD, Garden City, NY
- Satoru Yoshida, MD, Muroran City, Japan
- Joe Yut, Olathe, Kan
- Yu Zhang, Nagoya, Japan
- Stan Zipser, MD, JD, Mountain View, Calif
For "Case 75: Erythropoietic Hemochromatosis" (Radiology 2004; 233:116—119), the following individual should have been listed among those submitting the most likely diagnosis:
- Stanko Yovichevich, MD, Sydney, Australia
TOP
HISTORY
IMAGING FINDINGS
