Diagnosis of Erdheim—Chester disease by using computerized tomography—guided stereotactic biopsy of a caudate lesion

Abstract

The authors present the case of a 27-year-old woman with Erdheim-Chester disease (ECD) and extensive intracranial involvement, in whom the initial diagnosis of ECD was established based on computerized tomography (CT)-guided stereotactic biopsy of a caudate lesion. Erdheim-Chester disease is a rare non-Langerhans cell histiocytosis of unknown origin that is clinically characterized by bone pain, diabetes insipidus, and exophthalmos. The radiological hallmarks of the disease include symmetrical sclerosis of the long bones with epiphysial sparing and increased tracer uptake in lesions seen on scintigraphic imaging. Erdheim-Chester disease is characterized histologically by the presence of infiltrating lipid-laden histiocytes that commonly involve the retroperitoneum, orbits, skin, pericardium, lungs, and long bones. Although the occurrence of diabetes insipidus often precedes the diagnosis of ECD by more than a decade in most patients, magnetic resonance imaging- and CT-documented central nervous system involvement is exceedingly rare. In the setting of neurological involvement, neurosurgical biopsy has been reported seven times in the literature, with only one of these biopsies being the basis for the initial diagnosis of the disease. The authors' case represents only the second time the disease has been diagnosed by means of neurosurgical biopsy, highlighting the diagnostic difficulties that patients with EDC present. Skeletal radiographs were confirmatory in this case and this modality should be emphasized as the simplest and most direct route to the diagnosis. The degree of neurological involvement further distinguishes the case presented from prior reports in the literature. The multiple bilateral intraaxial lesions were intensely enhancing on contrast CT scans, distributed infra- and supratentorially, involving both white and gray matter, and associated with diffuse cerebral edema. The case presented is also remarkable by virtue of the symmetrical involvement of the caudate nuclei, representing the first such example documented in the literature. The diagnosis, treatment, and outcome in this patient are discussed, and a review of the literature is presented.

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

“…2,5,12 This finding is also in contradistinction to the focal mass lesions reported in the supratentorial compartment. 12,14,15,19,20 The final patient demonstrated diffuse FLAIR signal-intensity hyperintensity, similar to findings in a previous report by Bianco et al 21 HPA involvement has been reported as a single micronodular or nodular infundibular stalk mass 5 or thickening of the pituitary stalk. 12 This is similar to the findings in 3 patients in our study who demonstrated linear thickening of the pituitary stalk.…”

“…The second novel manifestation of ECD was ependymal enhancement along the lateral ventricle with linear extension inferiorly into the lentiform nucleus. Previous reports have described the presence of focal intra-axial mass lesions of the white matter and basal ganglia 12,14,15 but not this ependymal or linear enhancement. Several targeted treatments, including interferon and imatinib, have recently shown efficacy in ECD.…”

Unusual variants of non-Langerhans cell histiocytoses

“…57,59 Other neurologic involvement is rare but is often the source of significant morbidity. 57,[59][60][61] It may manifest clinically with cerebellar signs, typically lower extremity ataxia, upper motor neuron deficits, and focal neurologic deficits.…”

Surgical treatment of intracranial Erdheim-Chester disease

“…22,30 The most usual features, mainly in intracranial ECD, are dural granulomas in the brainstem or cerebellum with encasement of major vessels, including vertebral and basilar arteries. 4,15,31,32 So far only, 27 patients with intracranial lesions have been documented in ECD (Supplementary Table 1). …”

“…[7][8][9][10][11] Occasionally, intracerebral and dural tumour-like lesions have been reported. [12][13][14][15] It was first described by Jacob Erdheim and William Chester in 1930. 16 However, the term ECD was first coined by Jaffe 17 in 1972 and until 1980, a total of 47 patients with ECD had been reported in the medical literature, with 80 patients reported up to 2004.…”