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[Cerebral Erdheim-Chester disease]
H Taillia1, T de Greslan, C Adem
1Service de Neurologie, Hôpital d'Instruction des Armées du Val-de-Grâce, Paris.
Revue Neurologique
|July 23, 2004
Summary
Erdheim-Chester disease, a rare histiocytosis, can present with brainstem lesions mimicking tumors. This case highlights the importance of considering Erdheim-Chester disease in patients with seizures and specific systemic findings.
Area of Science:
- Neurology
- Histiocytosis
- Rare Diseases
Background:
- Erdheim-Chester disease is a rare non-Langerhans cell histiocytosis affecting multiple organs.
- Cerebral involvement in Erdheim-Chester disease is uncommon, often presenting as dural thickening or white matter lesions.
Observation:
- A 26-year-old male presented with a first partial complex epileptic seizure.
- Brain MRI revealed an asymptomatic pseudo-tumor lesion in the brainstem.
- Systemic findings included diabetes insipidus, hypophyseal gonadotropic deficiency, and osteosclerosis of long bones.
Findings:
- The diagnosis of Erdheim-Chester disease was confirmed via tibial biopsy.
- Brain MRI showed persistent enhancement of the brainstem lesion with Gd-DTPA.
- Literature review identified 64 cases of Erdheim-Chester disease, with only 7 involving cerebral "tumor"-like lesions.
Implications:
- This case expands the spectrum of neuroimaging findings in Erdheim-Chester disease.
- Highlights the diagnostic challenge of Erdheim-Chester disease, especially with atypical presentations.
- Emphasizes the need for a comprehensive evaluation in patients with unexplained systemic and neurological symptoms.