178 - Neurosarcoidosis presenting as progressive confusion and gait disturbance

Case Diagnosis: Neurosarcoidosis.

Case Description: A 28-year-old adult with a history of unspecified ventriculoperitoneal shunt placement, seizure disorder, and congenital cardiac defect repaired at age 2 presented to the ED with progressive confusion and gait disturbance and was found to have subacute meningoencephalitis of unclear etiology. The patient has a family history of autoimmune condition in his mother and maternal grandparent. MRI brain and total spine showed diffuse leptomeningeal nodular enhancement. CT chest showed mediastinal and bilateral hilar lymphadenopathy, and hilar lymph node biopsy showed non-caseating granulomas consistent with neurosarcoidosis. CSF ACE level was unremarkable. The patient’s condition improved with IVMP and oral prednisone taper, but a week after discharge he was readmitted following a head strike due to unsteady gait. ACE CSF levels were found to be 11.9 U/L and he developed horizontal diplopia, horizontal and downward stigmas, and asterixis, suggesting neurosarcoidosis progression. The patient was started on Infliximab and discharged to acute rehab.

Discussions: Sarcoidosis is characterized by the development of non-caseating granulomas in multiple systems throughout the body, most often the lungs, lymph nodes, skin, and eyes. Central nervous system involvement is rare, with neurosarcoidosis occurring in approximately 5 to 10 percent of patients with sarcoidosis. In 50 percent of neurosarcoidosis cases, neurological deficits are present at the time of first diagnosis. Leptomeningeal enhancement on MRI is a common finding. Glucocorticoid therapy is often the first treatment recommended in neurosarcoidosis, but patients who cannot tolerate or do not respond to this may benefit from other immunomodulatory therapies including Infliximab. Our patient initially responded to first-line treatment, but additional therapy was required shortly after due to disease progression.

Conclusions: Neurosarcoidosis can be difficult to diagnose and often has an unpredictable course. It is important to monitor patients for new or progressive neuro deficits in the acute rehab setting to determine the optimal treatment.