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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2016

Open Access 01-12-2016 | Letter to the Editor

Diffuse reduction of cerebral grey matter volumes in Erdheim-Chester disease

Authors: Eli L. Diamond, Vaios Hatzoglou, Sneha Patel, Omar Abdel-Wahab, Raajit Rampal, David M. Hyman, Andrei I. Holodny, Ashish Raj

Published in: Orphanet Journal of Rare Diseases | Issue 1/2016

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Abstract

Background

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. 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.

Methods

We present a volumetric analysis of eleven ECD patients without CNS tumors or prior neurotoxic treatments.

Results

Compared to age-matched controls, ECD patients have diffuse, bihemispheric reduction in cortical thickness and subcortical gray matter.

Conclusions

These findings provide the first corroborating evidence for neurologic disease in ECD patients without direct CNS infiltration.
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Metadata
Title
Diffuse reduction of cerebral grey matter volumes in Erdheim-Chester disease
Authors
Eli L. Diamond
Vaios Hatzoglou
Sneha Patel
Omar Abdel-Wahab
Raajit Rampal
David M. Hyman
Andrei I. Holodny
Ashish Raj
Publication date
01-12-2016
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2016
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/s13023-016-0490-3

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