Objective:

To describe a rare case of Erdheim-Chester disease (ECD) manifesting as an isolated craniocervical junction tumor mimicking a meningioma.

Background:

Erdheim–Chester disease is a rare, non-Langerhans cell histiocytosis of unclear etiology. When present, it commonly causes a multisystem disease exhibiting painful osteosclerotic lesions associated with a vast degree of multiorgan involvement. In up to half of cases, the nervous system is affected, often causing cerebellar or neurohypophysis dysfunction. ECD can present as an isolated skull base tumor mimicking more common cranial base pathology. Isolated intradural extramedullary spinal involvement is rarer. Here, we present an exceptionally rare case of ECD manifesting as an isolated craniocervical junction tumor mimicking a meningioma without systemic involvement.

Design/Methods:

A 60-year-old female with a history of hypertension and diabetes presented, complaining of fatigue, lower extremities weakness, and numbness associated with headaches. Examination revealed mild paraparesis, with hyperreflexia in the upper extremities and hyporeflexia with decreased sensation in the lower extremities.

Results:

MRI-Brain/C-Spine showed a large multilobulated intradural extramedullary enhancing mass compressing the upper cervical cord at C1 level,encasing the right intracranial vertebral artery, and extending intracranially displacing the medulla. The provisional diagnosis of meningioma was made, and she was started on dexamethasone. Surgical debulking was performed. Pathology revealed densely sclerotic and fibrotic lesions with focal aggregates of foamy histiocytes and occasional chronic inflammatory cells. Immunohistochemistry was positive for CD45, Ki-67, and BRAF V600E mutation. She was scheduled to be started on targeted therapy.

Conclusions:

We detailed an exceptionally rare presentation of ECD as an isolated craniocervical mass with no other systemic manifestations, making the diagnosis more challenging. To the best of our knowledge, this is the first description of ECD manifesting as an isolated craniocervical junction tumor mimicking a meningioma without systemic involvement. Early recognition of this presentation could lead to timely interventions, possibly reducing morbidity and mortality.