Erdheim-Chester Disease Revealed by Central Positional Nystagmus: A Case Report

Abstract

Erdheim-Chester disease (ECD) is a rare histiocytic disorder, recently recognized to be neoplastic. The clinical phenotype of the disease is extremely heterogeneous, and depends on the affected organs, with the most frequently reported manifestations being bone pain, diabetes insipidus and neurological disorders including ataxia. In this article, we report on a case of a 48-year-old woman, whose initial symptom of gait instability was isolated. This was associated with positional nystagmus with central features: nystagmus occurring without latency, clinically present with only mild symptoms, and resistant to repositioning maneuvers. The cerebral MRI showed bilateral intra-orbital retro-ocular mass lesions surrounding the optic nerves and T2 hyperintensities in the pons and middle cerebellar peduncles. A subsequent CT scan of the chest abdomen and pelvis found a left “hairy kidney”, while 18 F-FDG PET-CT imaging disclosed symmetric 18F-FDG avidity predominant at the diametaphyseal half of both femurs. Percutaneous US-guided biopsy of perinephric infiltrates and the kidney showed infiltration by CD68(+), CD1a(-), Langerin(-), PS100(-) foamy histiocytes with BRAFV600E mutation. The combination of the different radiological abnormalities and the result of the biopsy confirmed the diagnosis of ECD. Many clinical and radiological descriptions are available in the literature, but few authors describe vestibulo-ocular abnormalities in patients with ECD. Here, we report on a case of ECD and provide a precise description of the instability related to central positional nystagmus, which led to the diagnosis of ECD.

Multiple Nervous System Involvement of Erdheim-Chester Disease With Responsive Perinephritic Hypermetabolism

“…Axial fusion 18 F-FDG PET/CT images of the patient at the level of the perinephritic lesions with significant FDG uptake ( A ) decreasing to background level after treatment ( B ). Previous case reports also demonstrate the neuroradiological findings associated with several neurological complaints especially visual findings and nystagmus 1–4 . However, some of the central nervous system lesions and most of the perinephritic lesions do not show FDG uptake 2,3 .…”

“…Previous case reports also demonstrate the neuroradiological findings associated with several neurological complaints especially visual findings and nystagmus. [1][2][3][4] However, some of the central nervous system lesions and most of the perinephritic lesions do not show FDG uptake. 2,3 18 F-FDG PET/CT is the method of choice for the determination of the lesions of Erdheim-Chester disease (ECD) and the discrimination of the ECD with its related form including Langerhans cell histiocytosis.…”

Novel paraneoplastic mechanism for cerebellar ataxia in Erdheim-Chester disease

“…Most published cases of ECD with cerebellar ataxia are associated with hyperintense lesions affecting the cerebellum, particularly the dentate nuclei, on T2-weighted MRI sequences 18–21. It is thought that local histiocyte infiltration with subsequent cerebellar mass formation explains the ataxia in these cases 22.…”

Doença de Erdheim Chester com envolvimento isolado do SNC

“…O terceiro grupo mais comum de manifestações relatadas da doença de Erdheim-Chester são as manifestações oftálmicas, correspondendo a 16 artigos. Entre as manifestações relatadas estão: proptose bilateral, nistagmo, diplopia, perda progressiva da acuidade visual, exoftalmia, lesões semelhantes a xantelasmas, infiltração da coróide, além de lesões com envolvimento das órbitas (6,7,17,18,(34)(35)(36)(37)(38)(39)(40)(41)(42)(43)(44).…”