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Table of Contents    
LETTER TO EDITOR
Year : 2014  |  Volume : 62  |  Issue : 4  |  Page : 446-448

Central nervous system Erdheim Chester disease presenting with raised intracranial pressure and cerebellar signs mimicking neurosarcoidosis with secondary cerebral venous thrombosis


Department of Neurology, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia

Date of Web Publication19-Sep-2014

Correspondence Address:
Shanthi Viswanathan
Department of Neurology, Kuala Lumpur Hospital, Kuala Lumpur
Malaysia
Shanthi Viswanathan
Department of Neurology, Kuala Lumpur Hospital, Kuala Lumpur
Malaysia
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.141250

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How to cite this article:
Viswanathan S, Kadir NA, Lip AC, Rafia MH, Viswanathan S, Kadir NA, Lip AC, Rafia MH. Central nervous system Erdheim Chester disease presenting with raised intracranial pressure and cerebellar signs mimicking neurosarcoidosis with secondary cerebral venous thrombosis. Neurol India 2014;62:446-8

How to cite this URL:
Viswanathan S, Kadir NA, Lip AC, Rafia MH, Viswanathan S, Kadir NA, Lip AC, Rafia MH. Central nervous system Erdheim Chester disease presenting with raised intracranial pressure and cerebellar signs mimicking neurosarcoidosis with secondary cerebral venous thrombosis. Neurol India [serial online] 2014 [cited 2020 Oct 24];62:446-8. Available from: https://www.neurologyindia.com/text.asp?2014/62/4/446/141250


Sir,

Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis [1],[2],[3] and is characterized by multisystemic involvement; central nervous system (CNS) involvement in ECD is a rarity. [4],[5] We describe a case of ECD with CNS involvement.

A 50-year-old man presented in 2010 with complaints of headache, blurring of vision, dysarthric speech, and unsteady gait. Neurological examination revealed papilloedema with bilateral sixth nerve palsy, cerebellar scanning speech, and difficulty to tandem walk. Cerebrospinal fluid (CSF) opening pressure was raised with no cells and normal biochemistry. Brain magnetic resonance imaging (MRI) revealed cerebral venous thrombosis (CVT) involving the superior sagittal and left transverse sinus. He was started on warfarin. He subsequently defaulted follow-up and went to Europe for treatment where he was admitted to a hospital in 2011, with worsening headaches, double vision, dysarthria, and altered mental status. Brain computed tomography (CT) and MRI revealed large lesions involving the orbital region, falx hypophysis, sphenoid and ethomoid sinuses. Brain biopsy showed polynuclear giant cells suggestive of possible diagnosis of neurosarcoidosis for which high dose methylprednisolone 1 g daily for 3 days was given, followed by a tapering dose of steroids. He was readmitted upon returning with recurrent episodes of headaches and blurring of vision. Lumbar puncture showed raised pressures of 40 cm H 2 O, acellular, normal biochemistry,negative for mycobacterium tuberculosis and other infections. Repeat MRI revealed thickening of dura over the tentorium cerebri, falxhypophysis, and left orbital region. Though the serum angiotensin converting enzyme and CT thorax were normal, a Gallium scan of chest was suggestive of neurosarcoidosis. The patient was treated with dexamethasone and methotrexate 15 mg weekly for a year.

He continued to be symptomatic with complaints of bone pain over the back and limbs, bilateral yellowish xanthelasma-like periorbital and eyelid swellings, progressively increasing in size, and nodular subcutaneous swellings over the flexor aspects of forearms. He refused a repeat brain biopsy. MRI of brain revealed increasing nodular lesions, thickened dura involving the tentorium cerebelli, posterior interhemispheric fissure, and left retro-orbital space, with bilateral intraconal lesions encasing both optic nerves and lateral rectus muscle, left cavernous sinus, and left inferior orbital fissure. The obliteration of the straight sinus and both transverse sinuses with dilated cortical veins suggested secondary venous thrombosis. Spine MRI showed osteosclerotic thoracic vertebrae. [Figure 1] and [Figure 2] Thoraco-abdominal CT revealed hydronephrosis and pericardial effusion. A (99 m) Technectium-MDP bone scan showed extensive osteoblastic reaction in the axial and appendicular skeleton. Uptake was seen over the calvarium, right supraorbital, and left maxillary region, T10 vertebra, left radius, right proximal ulna, bilateral neck of femur, bilateral distal femur, both tibia, and the 5 th , 6 th , and 7 th ribs [Figure 2]. These findings were suggestive of skeletal and extraskeletal involvement of ECD. Left periorbital excision biopsy showed diffuse infiltration of foamy macrophages with numerous Touton type of giant cells within the dermis and subcutaneous fibrofatty tissue. Immunohistochemical stain showed positive CD 68 and negative S100 and CD1 alpha suggestive of ECD [Figure 3]. Treatment was changed to SC Interferon 3 million units 3 times per week and within a year the patient's headaches, diplopia, and cerebellar signs have resolved and the periorbital and forearm swellings are getting smaller.

ECD is a rare disorder characterized by multiorgan infiltration by non-Langerhans histiocytoses. [1],[2],[3] It is a neoplastic disorder of the histiocytes wherein lipid-laden histiocytes with foamy or eosinophilic cytoplasm infiltrate bones and various organs, leading to focal indolent disease, systemic involvement, and organ failure. It affects adult males mainly between the 5 th and 7 th decades of life. [4],[5] The rarity of ECD inevitably leads to misdiagnosis, as demonstrated in this patient, in the absence of definitive histopathological examination. [1],[2],[3],[4],[5] Clinical presentations of ECD include bone pains (50%), neurological symptoms (51%), orbital disease (30%), retroperitoneal organ involvement (68%), pulmonary symptoms (43%), cutaneous involvement such as xanthomas and xanthelasmas (11%), cardiovascular involvement (75%), and panhypopituitarism. [1],[2],[3],[4],[5] Rarely cerebral venous thrombosis (CVT) has been reported. [5] Neuroradiological findings are made up of three patterns, of which this patient had meningeal and infiltrative features with concomitant CVT and raised intracranial pressure. [1],[2],[3],[4],[5]
Figure 1: (a) Axial MRI brain T1W post-gadolinium (left, center) (b) Rounded enhancing nodular lesions-occipital, cerebellum (c) Coronal view (right) meningeal enhancement tentorium, fissures

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Figure 2: (a) MRI spine (T2WI, sagittal) showing osteosclerotic thoracic vertebrae (b) Contrast Enhanced CT orbit (center) Bilateral intraconal lesions (c) CT abdomen (Left) hydronephrosis

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Figure 3: (a) H and E stain, Periorbital biopsy - foamy macrophages,touton type giant cells. (400) (b) CD 1a negative (C) CD68 positive (D) S100 staining negative (e) Bone scan with increased uptake

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  Acknowledgment Top


We would like to thank the Director General of Health of Malaysia for allowing us to publish this article, and Dato Dr. Mohd. Hanip Rafia for the support and guidance in the development of this article. We would like to thank the pathologists at the Pathology Department of Kuala Lumpur Hospital for kindly loaning us the pictures of the slides for this patient.

 
  References Top

1.Cavalli G, Guglielmi B, Berti A, Campochiaro C, Sabbadini MG, Dagna L. The multifaceted clinical presentations and manifestations of Erdheim-Chester disease: Comprehensive review of the literature and of 10 new cases. Ann Rheum Dis 2013;72:1691-5.  Back to cited text no. 1
    
2.Arnaud L, Hervier B, Néel A, Hamidou MA, Kahn JE, Wechsler B, et al. CNS involvement and treatment with interferon-alpha are independent prognostic factors in Erdheim-Chester disease: A multicenter survival analysis of 53 patients. Blood 2011;117:2778-82.  Back to cited text no. 2
    
3.Drier A, Haroche J, Savatovsky J, Godeneche G, Dormont D, Chiras J, et al. Cerebral, facial and orbital involvement in Erdheim Chester disease: CT and MR imaging findings. Radiology 2010;255:586-94.  Back to cited text no. 3
    
4.Bisceglia M, Cammisa M, Suster S, Colby TV. Erdheim-Chester disease: Clinical and pathologic spectrum of four cases from the Arkadi M. Rywlin slide seminars. Adv Anat Pathol 2003;10:160-71.  Back to cited text no. 4
    
5.De Fillippo M, Ingegnoli A, Carloni A, Verardo E, Sverzellati N, Onniboni M, et al. Erdheim Chester disease: Clinical and radiological findings. Radiol Med 2009;114:1319-29.  Back to cited text no. 5
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

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