Case report of a patient with Erdheim-Chester disease presenting with neuro-endocrine symptoms and negative for BRAF mutation

Erdheim-Chester disease (ECD) is a rare progressive disease affecting multiple systems. It has recently been recognized as a neoplastic disease following the discovery of activating mutations in the MAPK pathway. There are several striking signs of ECD, such as the long bone involvement, as well as the hairy kidney appearance on computed tomography scan. It is rare for ECD to manifest neurological symptoms. Central nervous system involvement is a strong prognostic factor and independent predictor of death. ECD is characterized by the overproduction and accumulation of foamy histiocytes and Touton’s giant cells in various tissues and organs. ECD is a multisystem disorder in which any organ may be affected. PATIENT CONCERNS: This case report describes a 57-year-old woman with headaches and ataxia as the first clinical manifestation, without characteristic bone pain, but with delayed enuresis. In addition to the renal involvement, this patient had rarer splenic involvement. DIAGNOSES: The imaging presentation of this patient was similar to that of a “multiple meningiomas”. A combination of clinical, imaging and pathology for the diagnosis of ECD. INTERVENTIONS: Patients were given INF-α therapy. OUTCOMES: Fortunately, the patient responded well to INF-α treatment. LESSONS: ECD patient with neuro-endocrine symptoms.