Abstract
BackgroundErdheim-Chester disease (ECD) is a rare non-Langerhans histiocytosis characterized by systemic inflammation and granulomatous infiltration of multiple organs including the central nervous system (CNS), bones, and retroperitoneum. CNS infiltration occurs in one third of patients, but cognitive changes are common in patients without CNS disease. Here we investigate whether there is a neuroanatomic basis to observed cognitive deficits, even in absence of CNS disease.MethodsWe present a volumetric analysis of eleven ECD patients without CNS tumors or prior neurotoxic treatments.ResultsCompared to age-matched controls, ECD patients have diffuse, bihemispheric reduction in cortical thickness and subcortical gray matter.ConclusionsThese findings provide the first corroborating evidence for neurologic disease in ECD patients without direct CNS infiltration.
Highlights
Erdheim-Chester disease (ECD) is a rare non-Langerhans histiocytosis characterized by systemic inflammation and granulomatous infiltration of multiple organs including the central nervous system (CNS), bones, and retroperitoneum
Histiocytic infiltrates of the brain or surrounding structures occur in one-third of patients and central nervous system (CNS) involvement is a chief cause of death in ECD [1]
In this study we present group-level analysis of cortical thickness and subcortical volumes in 11 ECD patients compared to age-matched healthy controls
Summary
Erdheim-Chester disease (ECD) is a rare non-Langerhans histiocytosis characterized by systemic inflammation and granulomatous infiltration of multiple organs including the central nervous system (CNS), bones, and retroperitoneum. Conclusions: These findings provide the first corroborating evidence for neurologic disease in ECD patients without direct CNS infiltration. Erdheim-Chester disease (ECD) is a rare non-Langerhans histiocytosis reported in approximately 550 cases since its initial description in 1930. ECD is a multisystem disease characterized by lipogranulomatous histiocytic infiltration in virtually any organ, the most commonly affected sites include the bones of the legs, retroperitoneum, heart, orbits, skin, and brain [1]. Histiocytic infiltrates of the brain or surrounding structures occur in one-third of patients and central nervous system (CNS) involvement is a chief cause of death in ECD [1]. Neurologic symptoms and signs, including cognitive decline and behavioral changes, have
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