440 - A missed case of neurosarcoidosis with a rare initial presenting finding of hydrocephalus

Thursday, February 22, 2024

5:00 PM – 6:30 PM EDT

Presenting Author(s)

German A. Valdez, MD MS

Resident Physician
Mt. Sinai
New York, New York, United States

Co-Author(s)

HK

Harrison Knowlton, BA

Medical Student
Icahn School of Medicine at Mount Sinai
New York, New York, United States

Case Diagnosis: Neurosarcoidosis, Communicating Hydrocephalus

Case Description: A 28 year old African American male with a history of congenital heart defect s/p repair, communicating hydrocephalus of unknown causes s/p VPS 1 year ago was admitted for worsening altered mental status. CT head showed suboptimal shunt position in the foramen of monroe but stable ventricle size. MRI Brain showed diffuse leptomeningeal enhancement. Lumbar puncture was performed and showed elevated CSF leukocytes, elevated protein, normal glucose, negative ACE, negative infectious panel. He underwent EBUS TBNA which confirmed sarcoidosis. He was started on prednisone treatment and eventually underwent replacement of VPS. He transferred to acute rehabilitation.

Discussions: Sarcoidosis is a granulomatous disorder that can affect multiple organ systems, most commonly the lungs. Neurosarcoidosis is a rarer condition of which the presenting symptom is typically cranial neuropathy (facial nerve palsy or optic neuritis). Hydrocephalus involvement in neurosarcoidosis occurs only in 6 percent of cases and confers the worst long term prognosis.

Conclusions: This is a rare case of hydrocephalus as the presenting finding of neurosarcoidosis. In a young patient with unknown cause of communicating hydrocephalus with negative infectious CSF findings, neurosarcoidosis should be considered. His diagnosis was initially missed and although treated with VPS placement, he missed out on appropriate steroid and additional monoclonal antibody immunosuppressant treatment which ultimately caused worsening of symptoms with leptomeningeal enhancement one year later.