A Case of Cerebral Erdheim-Chester Disease With Progressive Cerebellar Syndrome

Na, Sang-Jun; Lee, Kee Ook; Kim, Jung Eun; Kim, Yong-Duk

doi:10.3988/jcn.2008.4.1.45

Cited by 14 publications

(21 citation statements)

References 13 publications

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“…Constitutional symptoms like fever, malaise and weight loss may be present [2]. The etiology of the disease is unknown.…”

Section: Discussionmentioning

confidence: 99%

“…There are a variety of signs and symptoms related to ECD, ranging from benign bone pain (the most common presenting symptom - in 50% of patients) to multisystem complaints [1,2,4,5]. Constitutional symptoms like fever, malaise and weight loss may be present [2].…”

Section: Discussionmentioning

confidence: 99%

“…Erdheim-Chester disease (ECD) is a rare systemic non-Langerhans histiocytosis [1,2,3,4,5]. It was first described by the Austrian pathologist Jacob Erdheim and the American pathologist William Chester in 1930 [4].…”

Section: Introductionmentioning

confidence: 99%

“…It mainly affects the long bones, but other sites of involvement, such as eye, lung, heart, kidney, adrenal gland, breast, neck, gastrointestinal system, urogenital system, blood vessels and retroperitoneum, can be seen. Central nervous system (CNS) manifestations (in 15-25% of ECD patients) also present with ocular, hypothalamic, meningeal, vascular, cerebral and cerebellar involvement [1,2,3,4,5]. …”

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Cerebral Erdheim-Chester Disease Mimicking High-Grade Glial Tumor: A Case Report

Ekşi¹,

Otluoglu²,

Bozkurt³

et al. 2013

Pediatr Neurosurg

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“…Constitutional symptoms like fever, malaise and weight loss may be present [2]. The etiology of the disease is unknown.…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Cerebral Erdheim-Chester Disease Mimicking High-Grade Glial Tumor: A Case Report

Ekşi¹,

Otluoglu²,

Bozkurt³

et al. 2013

Pediatr Neurosurg

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“…Lachenal et al [4] differentiated the neurological involvement pattern into three types: an infiltrative type, a meningeal type and a composite type. The infiltrative lesions on MRI were described as widespread nodules or masses with hyperintensity signals on T 2 WI and GE-T 1 WI, and mainly involved the brain stem and the cerebellum, which caused cerebellar symptoms (ataxia) and/or pyramidal symptoms (diabetes inspidus) [5,6]. The meningeal lesions on MRI were described as meningioma-like intensity and/or nodular thickening of the dura matter, namely iso-or low signals on T 1 WI and T 2 WI and homogeneous hyperintensity signal on GE-T 1 WI [7,8].…”

Section: Discussionmentioning

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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Neurohistiocytosis of the Cerebellum: A Rare Cause of Ataxia

Elkouzi

Rauschkolb

Grogg

et al. 2015

Movement Disord Clin Pract

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Erdheim-Chester disease (ECD) is a non-Langerhans cell histiocytosis that affects multiple body organs, notably the skeletal system. We examined a 58-year-old man who presented with ataxia and T2 hyperintensity of the middle cerebellar peduncles and dentate nuclei without contrast enhancement on MRI brain. Workup for malignancy revealed "hairy kidneys" on CT scan of the abdomen, and excisional biopsy of the retroperitoneal mass for concerns of lymphoma revealed foamy histiocytes that tested positive for CD68 and negative for CD1a, confirming the diagnosis of ECD. Further genetic testing on excised tissue revealed BRAF (V600E) gene mutation that is present in 50% of ECD patients. Treatment was initiated with targeted therapy using the BRAF inhibitor Dabrafenib. X-ray of the lower extremities did not reveal sclerosis of the long bones, and bone scan with technetium 99 was negative except for a nonspecific tracer uptake in left calvarial bone with no corresponding CT changes or T1/T2 signal changes on MRI. His MRI brain revealed classic cerebellar involvement in ECD without other central nervous system (CNS) involvement. It has been postulated that bone involvement is almost universal in ECD; however, our patient with ECD had ataxia and cerebellar involvement without significant bone involvement, as evidenced by bone scan. This is a rare presentation of ECD affecting the CNS and sparing the skeletal system. It confirms the wide spectrum of presentation this multisystem disease can have. CaseA 58-year-old man presented complaining of balance problems, falls, and visual disturbance consistent with oscillopsia for 2 years. He had lost 80 pounds over 1 year. His past medical history was significant for chronic folliculitis of the skin that required corticosteroid injections, ulnar artery thrombosis with surgical bypass and maintenance anticoagulation, and surgically repaired bilateral rotator cuff injuries. His family history was negative for ataxia, neuropathy, tremors, and dementia. On exam, patient had horizontal gaze nystagmus and hypermetric saccades in both horizontal and vertical directions. His fundoscopic and pupillary examinations were unremarkable. His speech was ataxic. He had dysmetria on finger-nose test in both upper extremities, though more pronounced of the left upper extremity. Motor and sensory systems were unremarkable, and he had preserved deep tendon reflexes in all extremities. He had a wide-based gait. Brain MRI with contrast revealed T2 hyperintense lesions symmetrically involving the middle cerebellar peduncles and dentate nuclei. The lesions did not demonstrate contrast enhancement. Careful review of his MRI brain revealed normal retro-orbital space and pituitary gland without meningeal enhancement (Fig. 1).His thyroid-stimulating hormone, thiamine, vitamin B12, vitamin E, antinuclear antibody, liver enzymes, and electrolytes were normal. His urine and serum sodium and osmolality were within normal limits. We pursued workup for neoplasia: Bone marrow biopsy revealed normocellularity;...

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A Case of Cerebral Erdheim-Chester Disease With Progressive Cerebellar Syndrome

Cited by 14 publications

References 13 publications

Cerebral Erdheim-Chester Disease Mimicking High-Grade Glial Tumor: A Case Report

Cerebral Erdheim-Chester Disease Mimicking High-Grade Glial Tumor: A Case Report

Erdheim–Chester disease associated with intramedullary spinal cord lesion

Neurohistiocytosis of the Cerebellum: A Rare Cause of Ataxia

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