Non-Langerhans cell histiocytosis with isolated CNS involvement: An unusual variant of Erdheim-Chester disease

Abstract

Benign histiocytic proliferations are identified by their component cells and classified as either Langerhans cell histiocytosis or non-Langerhans cell histiocytosis. We report a 58-year-old Caucasian woman who presented with diabetes insipidus and was found to harbor a large suprasellar mass. Histopathological analysis was consistent with non-LCH. The differential diagnoses included juvenile xanthogranuloma, adult-onset xanthogranuloma, xanthoma disseminatum, Rosai-Dorfman disease, and Erdheim-Chester disease. Immunohistochemical examination demonstrated a proliferation of large lipid-laden histiocytic cells which were positive for CD68, negative for S100 protein, and showed only faint, background staining for CD1a. We present a case of an autopsy-confirmed non-Langerhans cell histiocytosis limited to the central nervous system and evaluated with both immunohistochemical and ultrastructural studies. Based on the multifocality, anatomic distribution, and immunostaining features, a diagnosis of Erdheim-Chester disease was made. This is only the second reported case of Erdheim-Chester disease with intracranial involvement but absence of extracerebral manifestations. Given the overlapping clinicopathologic, radiographic, and immunohistochemical profiles, differentiating between these rare histiocytic disorders can often present a significant diagnostic challenge. A systematic approach using all available clinical, laboratory, radiographic, histologic, immunohistochemical and ultrastructural data is essential for proper discrimination between the numerous histiocytoses.

Management of Langerhans Cell Histiocytosis (LCH)-Induced Central Diabetes Insipidus and Its Associated Endocrinological/Neurological Sequelae

“…Some are idiopathic while others are mass lesions on the hypothalamic-pituitary axis caused by germinoma, histiocytic disorders (including LCH), trauma, or inflammatory or infectious diseases (1,2,17,18). According to a large study by Maghnie et al(1), the etiologies in 52% of CDI cases were idiopathic, while LCH accounted for another 15%.…”

Primary intracranial plasma cell granulomas presenting as malignant neoplasms

“…Langerhans cell histiocytosis can be distinguished by the presence of histiocytes labeled with CD1a and S100 stains or by identification of Birbeck granules on electron microscopy. Non-Langerhans cell histiocytosis includes certain clinically and immunohistochemically distinct conditions such as juvenile xanthogranuloma, Rosai-Dorfman syndrome, and Erdheim-Chester disease [16]. Other granulomatous processes like tuberculosis, fungal granulomas, or sarcoidosis also have a distinctive appearance on histology.…”

“…Advanced imaging modalities such as diffusion tensor imaging and MR spectroscopy are also nonspecific [17]. A methodical process of exclusion is critical for establishing a proper diagnosis and initiating an appropriate treatment plan using all available clinical, laboratory, radiographic, histopathologic, and ultrastructural information [16].…”

Neurological manifestations in Erdheim-Chester disease: Two case reports

“…One possible explanation for these findings is the existence of a neurodegenerative pattern in addition to the mass infiltration, which could explain the progression of neurological impairment as well as the lack of response to treatment. 12,13 …”