Atypical spine involvement of Erdheim-Chester disease in an elderly male

Allmendinger, Andrew M.; Krauthamer, Alan V.; Spektor, Vadim; Aziz, Mohamed; Zablow, Bruce C.

doi:10.3171/2009.10.spine09316

Cited by 13 publications

(12 citation statements)

References 12 publications

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“…On 2002, Oweity et al reported that 30% of ECD cases exhibit osteolytic lesion involvement [13]. In addition, both typical and atypical ECD lesions may present in atypical foci [32,33]. Both the common and uncommon radiological findings of ECD related osseous involvement should be considered in the differential diagnosis alongside other medical conditions - on a case by case basis.…”

Section: Introductionmentioning

confidence: 99%

Erdheim-Chester Disease: a comprehensive review of the literature

Mazor

Manevich-Mazor

Shoenfeld

2013

Orphanet J Rare Dis

220

309

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Erdheim-Chester Disease (ECD) is a rare form of non Langerhans' cell histiocytosis. Individuals affected by this disease are typically adults between their 5th and 7th decades of life. Males and females are almost equally affected. The multi systemic form of ECD is associated with significant morbidity, which may arise due to histiocytic infiltration of critical organ systems. Among the more common sites of involvement are the skeleton, central nervous system, cardiovascular system, lungs, kidneys (retroperitoneum) and skin. The most common presenting symptom of ECD is bone pain. The etiology of ECD is unknown yet thought to be associated with an intense TH1 immune response. It may also be associated with the V600E BRAF mutation, as described in as many as half of the patients in recent studies. Bilateral symmetric increased tracer uptake on 99mTc bone scintigraphy affecting the periarticular regions of the long bones is highly suggestive of ECD. However, definite diagnosis of ECD is established only once CD68(+), CD1a(−) histiocytes are identified within a biopsy specimen. At present, this obscure ailment embodies numerous challenges to medical science. Given its rarity, it is diagnostically elusive and requires a high level of clinical suspicion. Therapeutically, it is of limited alternatives. Currently, interferon-α is the most extensively studied agent in the treatment of ECD and serves as the first line of treatment. Treatment with other agents is based on anecdotal case reports and on the basis of biological rationale. Nevertheless, cladribine (2CDA), anakinra and vemurafenib are currently advocated as promising second line treatments for patients whose response to interferon-α is unsatisfactory. Overall, the 5 year survival of ECD is 68%. Herein, the authors mustered and brought about a panoramic consolidation of all the relevant facts regarding ECD. This work highlights the different clinical, radiological and pathological manifestations associated with ECD, the differential diagnoses, the various treatment options and the acknowledged science explaining the disease.

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Section: Introductionmentioning

confidence: 99%

Erdheim-Chester Disease: a comprehensive review of the literature

Mazor

Manevich-Mazor

Shoenfeld

2013

Orphanet J Rare Dis

220

309

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“…Less commonly affected areas include the spinal meninges and the bony spinal column. [8][9][10] When patients do have CNS involvement, they are often symptomatic, with diabetes insipidus and ataxia syndromes being the most common presentations. 5 The purpose of this study was to review the findings on conventional imaging of the brain, head and neck, and spine in patients with ECD who presented to our institution and to identify atypical manifestations.…”

mentioning

confidence: 99%

Erdheim-Chester Disease of the Central Nervous System: New Manifestations of a Rare Disease

Sedrak¹,

Ketonen²,

Hou³

et al. 2011

AJNR Am J Neuroradiol

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BACKGROUND AND PURPOSE: ECD is a rare non-Langerhans-cell histiocytosis, which can involve the CNS; therefore, CNS imaging findings have been described in only a small number of patients. To gain additional insight into the CNS manifestations of ECD, we reviewed the findings on imaging of the brain, head and neck, and spine in patients with ECD who presented to our institution. Here, we illustrate manifestations that have not, to our knowledge, been previously described.

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“…The spinal cord lesion is very rare [4,9,10]; it has been observed in only nine patients including our case, and to the best of our knowledge the intramedullary spinal cord lesion presented in this case has not been documented in previous manuscripts. Spinal cord tumours such as astrocytoma, ependymoma, haemangioblastoma, cavernous haemangioma and malignant lymphoma are listed to be differentiated from ECD but considered to be unlikely because the present lesion included less oedema and no cystic component, haemorrhage and flow void.…”

Section: Discussionmentioning

confidence: 62%

“…As time progressed, the patient noticed weakness in the left upper and lower extremities and the paresis gradually worsened. Laboratory studies revealed a slight increase in white blood cells, 10 . MRI delineated multiple lesions at bilateral cranial convexity, falx, cerebellar tent and left orbital fossa.…”

Section: Case Reportmentioning

confidence: 99%

Erdheim–Chester disease associated with intramedullary spinal cord lesion

Takeuchi

Sato²,

Sonomura³

et al. 2012

BJR

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ABSTRACT. Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis. We present a case of a 56-year-old male with ECD. As time progressed, involvement of the orbital fossa, cranial convexity, spinal cord, brain stem, thyroid, lung, retroperitoneum, lower extremity bones and skin were found. Previously reported cases reveal the frequency of ECD with spinal cord involvement is rare. Although this was a presumed diagnosis based on other lesions, our case is the first in which both intramedullary and epidural masses are present. Erdheim-Chester disease (ECD) is a rare nonLangerhans cell histiocytosis (LCH). Skin and long bone involvement are often observed in ECD. ECD infiltrates into systemic components which produce protean radiological manifestations. Osteosclerosis at metaphyseal and diaphyseal lesions of long bones on radiographs are a specific finding for ECD. The following extraskeletal sites of lesions have been documented: cardiopulmonary system, intraperitoneal organs, orbital fossa and central nervous system. Spinal cord involvement is very rare. We present a case of ECD associated with spinal cord involvement including intramedullary and epidural lesions. Case reportA 56-year-old male was admitted to our hospital with left exophthalmos. The patient underwent a total resection of a left orbital tumour. The tumour was a macroscopically yellowish mass and the histological specimen revealed a proliferation of foamy histiocytes associated with the infiltration of lymphocytes and plasma cells, yielding the diagnosis of xanthoma. 2 months later, MRI revealed the recurrent tumour in the left orbital fossa and a new mass in the bilateral cranial convexity. As time progressed, the patient noticed weakness in the left upper and lower extremities and the paresis gradually worsened. Laboratory studies revealed a slight increase in white blood cells, 10 300 ml . MRI delineated multiple lesions at bilateral cranial convexity, falx, cerebellar tent and left orbital fossa. The tumours displayed low-to isosignal intensity on T 1 weighted images (T 1 WI) and low to slightly high signal intensity on T 2 weighted images (T 2 WI). A strong homogeneous pattern of enhancement was observed on gadolinium-enhanced (GE)-T 1 WI. The small lesions in the brain stem and dentate nucleus of cerebellum showed high signal intensity on T 2 WI and fluid level attenuated inversion recovery (FLAIR) images. We made a pre-operative diagnosis of possible multiple meningioma syndrome, although plasmacytoma, granuloma, hypertrophic pachymeningitis, malignant lymphoma etc were listed for differential diagnosis. An MRI of the cervical spine revealed an intramedullary lesion displayed isosignal intensity on T 1 WI, high signal intensity on T 2 WI and a strong homogeneous enhancement pattern on GE-T 1 WI (Figure 1). Open surgical resection of the cranial tumour was conducted. The tumour was a macroscopically yellowish mass. A histological examination showed the tumour was mainly composed of a round nucleus and foamy cytoplasma with pos...

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Atypical spine involvement of Erdheim-Chester disease in an elderly male

Cited by 13 publications

References 12 publications

Erdheim-Chester Disease: a comprehensive review of the literature

Erdheim-Chester Disease: a comprehensive review of the literature

Erdheim-Chester Disease of the Central Nervous System: New Manifestations of a Rare Disease

Erdheim–Chester disease associated with intramedullary spinal cord lesion

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