Neurological manifestations in Erdheim-Chester disease: Two case reports

Rouco, I.; Aróstegui, Juan I.; Cánovas, Araceli; Tánago, Jaime González del; Fernández, I. Fernández; Zarranz, J.J.

doi:10.1016/j.nrleng.2014.01.007

Cited by 1 publication

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“…To date, the neurologic features of ECD have been described in small series and retrospective studies . A meta‐analysis showed that approximately half of ECD patients have neurologic involvement, and these patients carry a poorer prognosis and may be refractory to first‐line treatments .…”

Section: Introductionmentioning

confidence: 99%

Neurological manifestations of Erdheim–Chester Disease

Boyd

O’Brien

Özkaya

et al. 2020

Ann Clin Transl Neurol

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Objective: To characterize the spectrum of neurologic involvement in Erdheim-Chester Disease (ECD), a treatable inflammatory neoplasm of histiocytes. Methods: Sixty-two patients with ECD were prospectively enrolled in a natural history study that facilitated collection of clinical, imaging, laboratory, neurophysiologic, and pathologic data. Results: Ninety-four percent of the patients had neurologic abnormalities on examination or imaging, and 22% had neurologic symptoms as the initial presentation of ECD. The most common neurologic findings were cognitive impairment, peripheral neuropathy, pyramidal tract signs, cranial nerve involvement, and cerebellar ataxia. Imaging revealed atrophy and demyelination along with focal lesions that were located throughout the nervous system, dura, and extra-axial structures. The BRAF V600E variant correlated with cerebral atrophy. Brain pathology revealed lipid-laden, phagocytic macrophages (histiocytes) accompanied by demyelination and axonal degeneration. Interpretation: In patients with ECD, neurologic morbidity is common and contributes significantly to disability. Since neurologic symptoms can be the presenting feature of ECD and, given the mean delay in ECD diagnosis is 4.2 years, it is critical that neurologists consider of ECD and other histiocytosis in patients with inflammatory, infectious, or neoplastic-appearing white matter. Furthermore, given the broad spectrum of neurologic involvement, neurologists have an important role in a team of specialists treating ECD patients.

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Section: Introductionmentioning

confidence: 99%