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Washington University Experience | MYELIN (IMMUNE-MEDIATED) | NMO (Neuromyelitis Optica) | NMO Spectrum Disorder | 2A0 Case 2 History
Case 2 History ---- This patient was a 62-year-old man who initially presented 7 months prior to his death with intractable hiccups and vomiting followed by confusion, cognitive dysfunction, and later vision loss. He was confused and agitated and had abnormal involuntary movements. MRI showed abnormal enhancement of the optic chiasm, prechiasmatic optic nerves, and optic tracts, T2 hyperintensity in the midbrain tectum, FLAIR hyperintensity in the medial temporal lobes, and T2/FLAIR hyperintensities in the cerebral hemisphere white matter, basal ganglia, and cerebellum suspicious for infectious encephalitis. NMO AQP4 IgG was >160 (reference range <1.6 Units/mL). Four months later he developed a 2 day history of vision loss CSF were detected, as were anti-SSA, SSB, ANA, and GAD. He was treated with high dose steroids and plasma exchange. He developed MSSA bacteremia, deep venous thrombosis, and pneumonia. After these resolved, he was discharged to a rehabilitation facility, where he developed increasing confusion, become comatose, was transferred back to the hospital, and had a large frontotemporal lesion by imaging. He was placed in hospice care and died 7 months after his initial presentation. Microscopic examination of the brain revealed numerous aquaporin-4 (AQ4) immunonegative demyelinating and necrotizing lesions with associated perivascular eosinophil-containing inflammatory infiltrates, involving the basal ganglia, optic chiasm, hypothalamus, area postrema and cerebellum, among other areas. The spinal cord was relatively unaffected. This case suggests that NMO/NMOSD may have a heterogeneous clinical presentation that varies along temporal and spatial domains (This was part of a poster exhibited in 2012 as abstract #39 by Drs. Charles White and Patrick Malafronte, UTSW. Many thanks to them for the tissue, gross image and performing AQ4 IHC.
