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Isolated Neurosarcoidosis in a Previously Healthy Young Male

Authors

Nicholas Wu; Ghattas Malki; Brannon Cha; Alan Aung; Leah Howitt; Namita Sachdev, MD, FACP, FAAP; Bernice Ruo, MD, FACP; Ruth Abeles, MD

Introduction

Neurosarcoidosis (NS) is sarcoidosis affecting the central and/or peripheral nervous system, occurring in 5-26% of patients with sarcoidosis. Of this group, 10% of patients have isolated NS (1). Common presentations include cranial neuropathies, aseptic meningitis, hydrocephalus, peripheral neuropathy, and/or parenchymal disease including mass lesion, encephalopathy, and seizures (2). Research on isolated NS is limited, and previous work suggests that risk factors are similar to systemic sarcoidosis, which is more common in Black women or those with a family history (3–5). We present a case of isolated NS in a patient with no risk factors.

Case Presentation

A 28-year-old previously healthy male presented to primary care with 6 months of worsening daily, constant headaches to the occipital and frontal region that woke him up at night. The headache was described as throbbing and improved with Tylenol and Advil. He reported possible lacrimation, but no photo- or phonophobia or changes in vision or hearing. Family history was remarkable for migraines and ulcerative colitis in his mother. He had a normal neurologic exam, but the decision was made to pursue imaging due to the progression of his symptoms. However, MRI was initially delayed due to high insurance deductible. Over the next 2 months, the patient developed gradual onset slurred speech without dizziness, vision changes, or loss of balance. MRI brain at this time showed irregular leptomeningeal and pachymeningeal enhancement with herniation of the right cerebellar tonsil and acute infarct of the medial right cerebellar hemisphere. Patient was admitted and underwent external ventricular drain placement with moderate symptomatic improvement. Brain biopsy showed necrotizing granulomatous meningitis with negative CSF cytopathology. Laboratory results were only notable for increased CSF and serum soluble IL-2 and IL-6 and elevated CD4:8 ratio on flow cytometry. Differential included neurosarcoidosis (NS) and primary angiitis of the CNS (PACNS). Rheumatology and neurology were consulted, and the leading diagnosis was neurosarcoidosis. Patient was started on prednisone and infliximab and was referred for further systemic sarcoidosis workup. Whole body PET CT 2 weeks later showed no evidence of systemic sarcoidosis.

Discussion

We present a case report of a 28-year-old Caucasian male with isolated neurosarcoidosis (NS). In a young patient with minimal risk factors and isolated neurological involvement, the non-specific presentation requires exclusion of other neurological disorders, often by MRI and biopsy (2, 5). PACNS can have a similar presentation to NS. PACNS typically presents with subacute to chronic progressive headache and encephalopathy and, uncommonly, with acute stroke/TIA and focal neurologic symptoms (6). MRI and biopsy can differentiate NS from PACNS. On MRI, NS more frequently has basal meningeal, cranial nerve, or spinal cord involvement, while PACNS has cerebral involvement (7). MRI, which may have expedited NS diagnosis, was unfortunately delayed in this case due to a high insurance deductible.

References

  1. Abata J, Bazer D, Koroneos N, et al. Isolated neurosarcoidosis presenting as chronic progressive pachymeningitis. Case Rep Neurol Med. 2023;2023:2140740. [PMID: 36936604] doi:10.1155/2023/2140740
  2. Stern BJ, Krumholz A, Johns C, et al. Sarcoidosis and its neurological manifestations. Arch Neurol. 1985;42:909-917. [PMID: 3896208]. doi:10.1001/archneur.1985.04060080095022
  3. Nozaki K, Scott TF, Sohn M, et al. Isolated neurosarcoidosis: case series in 2 sarcoidosis centers. Neurologist. 2012;18:373-377. [PMID: 23114669] doi:10.1097/NRL.0b013e3182704d04
  4. Baughman RP, Field S, Costabel U, et al. Sarcoidosis in America. Analysis based on health care use. Ann Am Thorac Soc. 2016;13:1244-1252. [PMID: 27509154] doi:10.1513/AnnalsATS.201511-760OC
  5. Spencer TS, Campellone JV, Maldonado I, et al. Clinical and magnetic resonance imaging manifestations of neurosarcoidosis. Semin Arthritis Rheum. 2005;34:649-661. [PMID: 15692958] doi:10.1016/j.semarthrit.2004.07.011
  6. Baughman RP, Lower EE, du Bois RM. Sarcoidosis. Lancet. 2003;361:1111-1118. [PMID: 12672326] doi:10.1016/S0140-6736(03)12888-7
  7. Saygin D, Jones S, Sundaram P, et al. Differentiation between neurosarcoidosis and primary central nervous system vasculitis based on demographic, cerebrospinal and imaging features. Clin Exp Rheumatol. 2020;38 Suppl 124:135-138. [PMID: 31928590]

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