Objective:

To describe a case of neuropsychiatric systemic lupus erythematosus (NPSLE) presenting predominantly as intracranial hypertension (IH) with diffuse leukoencephalopathy, acquired cerebellar tonsillar herniation, and severe bilateral papilledema without systemic manifestations of systemic lupus erythematosus (SLE). 

Background:

IH occurs in 1–5.4% of SLE patients, typically presenting as idiopathic intracranial hypertension without parenchymal lesions. Diffuse cerebral edema with leukoencephalopathy as a manifestation of SLE is exceedingly rare, with prior reports describing fatal outcomes. NPSLE presenting as the sole manifestation of SLE, without systemic features, poses a significant diagnostic challenge.  

Design/Methods:

A 29-year-old woman presented with progressive occipital headaches, visual loss, nausea, and vomiting over 6 months. Initial MRI revealed symmetric, non-enhancing T2/FLAIR hyperintensities in the deep gray and white matter, brainstem, and cerebellar white matter, initially attributed to viral encephalitis. CSF showed mildly elevated protein (51 mg/dL) with negative infectious and paraneoplastic workup. Mild headache improvement was demonstrated with acetazolamide, but the patient self-discontinued, subsequently developing severe bilateral papilledema with progressive visual loss. Repeat MRI demonstrated worsening leukoencephalopathy, diffuse cerebral edema, ventricular effacement, and acquired cerebellar tonsillar herniation precluding repeat lumbar puncture. Serologies revealed ANA >1:2560 (speckled), anti-dsDNA 1:160, positive anti-Smith/RNP, SSA, SSB, and low C3. AQP4 and MOG antibodies were negative. She had no mucocutaneous, renal, or other systemic SLE features. She was treated with pulse-dose IV methylprednisolone, rituximab induction, and right optic nerve sheath fenestration for her vision-threatening papilledema. She demonstrated significant clinical improvement with resolution of headaches, vertigo, and improved mentation.

Results:

NA

Conclusions:

This case highlights a rare phenotypic presentation in the spectrum of NPSLE by demonstrating manifestations of IH (diffuse leukoencephalopathy with cerebral edema, acquired Chiari malformation, and vision-threatening papilledema) as the isolated presenting manifestation. Clinicians should consider SLE serologies in unexplained leukoencephalopathy with IH, even without systemic features. Aggressive immunosuppression combined with surgical management of papilledema can yield favorable outcomes.