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Year : 2017  |  Volume : 65  |  Issue : 2  |  Page : 392--393

Neurological manifestation of Erdheim Chester disease: A series of 3 patients

Bhavesh Trikamji1, Shrikant Mishra2,  
1 Olive View-UCLA Medical Center, Sylmar, California; VA Greater Los Angeles HSC, Los Angeles, California, USA
2 Olive View-UCLA Medical Center, Sylmar, California; VA Greater Los Angeles HSC, Los Angeles, California; Keck School of Medicine, USC, Los Angeles, California; David Geffen School of Medicine, UCLA, Los Angeles, California, USA

Correspondence Address:
Dr. Shrikant Mishra
16111 Plummer Street, North Hills, CA 91343, California

How to cite this article:
Trikamji B, Mishra S. Neurological manifestation of Erdheim Chester disease: A series of 3 patients.Neurol India 2017;65:392-393

How to cite this URL:
Trikamji B, Mishra S. Neurological manifestation of Erdheim Chester disease: A series of 3 patients. Neurol India [serial online] 2017 [cited 2023 Feb 6 ];65:392-393
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First described in 1930 by Jacob Erdheim and William Chester,[1] Erdheim Chester disease (ECD) is a rare non-Langerhans-cell histiocytosis, which typically affects patients in their fifth decade, and more commonly affects men than women. Pathologically, the disease is characterized by infiltration of tissues by lipid-laden histiocytes. There is a predilection for the appendicular skeleton, particularly the long bones of the upper and lower extremities. The other common sites include the perinephric soft tissues, retroperitoneum, mediastinum, and pulmonary interstitium. The clinical course varies widely, depending on the extent of the disease, with some patients never developing symptoms and other patients succumbing after rapid disease progression. Neurologic involvement is encountered in fewer than 50% of patients with proven ECD, with the most common locations being the hypothalamic-pituitary axis, brain parenchyma, orbits, meninges, and paranasal sinuses. Less commonly affected areas include the spinal meninges and the bony spinal column.[2] Primary neurological disorders in ECD are less frequent and only a few patients with cerebellar symptoms such as dysarthria, nystagmus, cerebellar dysmetria and ataxia have been described in the recent literature.

We report three cases with ECD, with special reference to MRI and pathologic findings.

Our first case, a 63-year-old male patient presented with an one-year history of intermittent spasms lasting for approximately 20 seconds on the right side of his body involving his face, arm, and leg. The neurological examination was essentially normal and the cerebrospinal fluid (CSF) and electroencephalogram (EEG) were negative for infection and seizures. Magnetic resonance imaging (MRI) of the brain revealed contrast-enhancing infiltrating lesions in the pons, midbrain, and bilateral medial temporal lobes [Figure 1]a. Interestingly, computed tomographic (CT) scan of the thorax revealed nodular densities in the right and left middle lobes of the lung, without any evidence of hilar or axillary adenopathy. An extensive diagnostic work up including serum angiotensin converting enzyme level and lactate dehydrogenase, was negative except for the fact that the positron emission tomography (PET) study revealed that the lesion seen on MRI was intensely hypermetabolic. Two years later, he presented to the Neurology clinic with worsening diplopia and left-sided weakness, now requiring a cane to ambulate. On neurological exam, he was found to have diplopia, dysmetria, ataxia, and bilateral upgoing plantar reflex. Chest X-ray revealed opacities in the right and left lower lobes. The lung biopsies revealed nonspecific inflammation with aggregates of foamy histiocytes. Skeletal survey revealed femoral sclerosis, which was thought to be consistent with Erdheim Chester disease (EDC). The patient was treated with corticosteroids but continued to deteriorate in his clincal condition. He was recommended treatment with interferon and other immunosuppresants, which he denied.{Figure 1}

Our second case, a 29-year-old male patient presented with a 2-year history of gradually progressive episodes of headaches, difficulty in vision and speech, and a lack of balance and coordination. Neurological examination was significant due to the presence of disconjugate gaze, slurred speech, dysmetria on finger-to-nose and heel-to-shin tests, and an ataxic gait. Further investigation into various causes of ataxia revealed extensive fluid-attenuated inversion recovery (FLAIR) and T2-weighted hyperintense lesions in the belly of the pons, extending inferiorly to the upper medulla and laterally into the middle cerebellar peduncles [Figure 1]b. Bone scans revealed multiple lesions, and biopsy confirmed the diagnosis of EDC. The patient was started on a 36 week continuous chemotherapy with cladribine and showed an excellent response.

Our third case, a 45-year-old male patient presented with a 2-year history of gradually progressive bilateral orbital swelling and intermittent blurring of vision. Opthalmological examination and MRI revealed bilateral mechanical ptosis secondary to a 15 mm × 8 mm elliptical lesion at the lateral aspect of right upper eyelid [Figure 1]c. The lesion was found to be slightly mobile, soft, and fluctuant. The pupils were equal, round, reactive to light as well as the accommodation reflex, and extraocular movements were full and orthophoric. Visual acuity with correction was 20/25 bilaterally. Patient was prescribed steroids, which provided minimal relief. Surgical debulking of the lesion was performed subsequently, and pathological examination confirmed the diagnosis of ECD.

In ECD, skeletal lesions can be asymptomatic, and thus radiological identification of these lesions is extremely important for the diagnosis of this disease. MRI is of enormous value in diagnosing ECD. Gadolinium-enhanced MRI shows retention of enhancement even after several days. The prolonged retention may be due to the abnormal histiocytic content of the lesions.[3] When patients have central nervous system (CNS) involvement, they are often symptomatic, with diabetes insipidus and ataxia syndromes being the most common presentations.

ECD is a rare and potentially fatal entity that can involve any part of the body and has no known successful cure. It bears a striking resemblance to other histiocytic disorders. Although steroids and immunosuppresants have been tried in systemic ECD, CNS ECD has only shown minimal improvement with steroids and radiotherapy. Typical radiographic and pathological findings should alert the clinician to this potentially fatal disease.

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Conflicts of interest

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2Sedrak P, Ketonen L, Hou P, Guha-Thakurta N, Williams MD, Kurzrock R, et al. Erdheim-Chester disease of the central nervous system: New manifestations of a rare disease. AJNR Am J Neuroradiol 2011;32:2126-31.
3Babu RP, Lansen TA, Chadburn A, Kasoff SS. Erdheim-Chester disease of the central nervous system. Report of two cases. J Neurosurg 1997;86:888-92.