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Erdheim-Chester Disease Revealed by Central Positional Nystagmus: A Case Report
Alexandra Weckel1, Yohann Gallois1, Rachel Debs2
1ENT, Department of Neurotology and Pediatric ENT, Pierre Paul Riquet Hospital, University Hospital of Toulouse, Toulouse, France.
Insights
Erdheim-Chester disease (ECD), a rare neoplastic histiocytic disorder, can present with isolated gait instability due to central positional nystagmus. This case highlights vestibulo-ocular findings as an early diagnostic clue for ECD.
Area of Science:
- Histiocytic Disorders
- Neoplastic Diseases
- Neurological Manifestations
Background:
- Erdheim-Chester disease (ECD) is a rare, recently identified neoplastic histiocytic disorder.
- Clinical presentation is highly variable, often involving bone pain, diabetes insipidus, and neurological deficits like ataxia.
Observation:
- A 48-year-old woman presented with isolated gait instability and central positional nystagmus.
- Cerebral MRI revealed retro-ocular mass lesions and pontine/cerebellar hyperintensities.
- CT and 18F-FDG PET-CT showed characteristic kidney and femur abnormalities.
Findings:
- Biopsy confirmed infiltration by CD68(+) foamy histiocytes with BRAF mutation.
- Radiological findings included bilateral intra-orbital mass lesions and symmetric femur avidity.
- The combination of clinical, radiological, and pathological data confirmed ECD diagnosis.
Implications:
- This case emphasizes the importance of recognizing vestibulo-ocular abnormalities in ECD diagnosis.
- Central positional nystagmus can be an early, isolated symptom of Erdheim-Chester disease.
- Detailed description of neurological findings aids in understanding ECD's heterogeneous presentation.
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 BRAF 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.
