Diagnostic MRI Score to Differentiate Susac Syndrome from Primary Angiitis of the Central Nervous System and Multiple Sclerosis.

OBJECTIVE: Susac syndrome (SuS), multiple sclerosis (MS), and primary angiitis of the central nervous system (PACNS) present diagnostic challenges due to overlapping clinical features. We aimed to enhance diagnostic precision by developing the SPAMS (SuS, PACNS, MS) score, a practical radiological tool. METHODS: This multicenter study included 99 patients (43 SuS, 37 MS, 19 PACNS) from South American countries. Relevant MRI features were identified through an elastic-net model determined key variables. RESULTS: The SPAMS score assigned 2 points for snowball lesions, 1 point for spokes-like lesions, or if there are more than 4 lesions in the corpus callosum, corpus callosum involvement, or cerebellar involvement. It subtracted 1 point if gadolinium-enhancing lesions or 4 points if Dawson's fingers are present. Bootstrapping validated the optimal cutoff at 2 points, exhibiting a diagnostic performance of area under the curve = 0.931, sensitivity = 88%, specificity = 89%, positive predictive value = 88%, negative predictive value = 89%, and accuracy = 88%. INTERPRETATION: When specific MRI findings coexisted, the SPAMS score differentiated SuS from MS and PACNS. Access to MRI and standard protocol sequences makes it a valuable tool for timely diagnosis and treatment, potentially preventing disability progression and severe clinical outcomes. ANN NEUROL 2024.

Susac Syndrome: A differential diagnosis of white matter lesions.

INTRODUCTION: Susac Syndrome is an autoimmune endotheliopathy affecting capillaries and precapillary arterioles of the brain, inner ear and retina. The classic symptom triad includes visual disturbances, hypoacusia, and encephalopathy, but is rarely fully manifest at onset. The syndrome typically follows an active fluctuating monophasic course. Typical imaging findings on brain magnetic resonance show central fiber microischemias/microinfarctions of the corpus callosum known as "snow balls", as well as lineal infarcts and upper callosal fiber involvement. Fluorescein angiography and tonal audiometry are important tools to confirm diagnosis, even in patients who are asymptomatic for visual or auditory disturbances. We describe 8 patients with Susac Syndrome treated at our center and compare findings to those of other published case series. METHODS: Eight adults with Susac Syndrome diagnosed between January 2007 and August 2016 at our center, in Buenos Aires, Argentina are described. Magnetic Brain Resonance, fluorescein angiography, tonal audiometry, a complete serologic battery and lumbar puncture were performed to all patients. RESULTS: The majority of patients were males, and average age at diagnosis was 37.5 years (range: 22-52 yrs). Two patients presented full clinical triad at onset, while the remaining developed visual and/or auditory disturbances later during the course of disease. All cases manifested varied neurological symptoms including pyramidal and/or sensory tract symptoms, amnesic disorders, ataxia and vertigo. Psychiatric manifestations such as disinhibition, aggressive behavior, paranoid ideation and hallucinations were also present. Seven patients suffered at least one relapse. Typical central corpus callosum fiber ischemias/infarcts, also known as snowball lesions were visible in all patients. Spokes, icicles, periventricular lesions and internal capsule "string of beads" patterns were observed on diffusion weighted images. Four cases presented fornix microischemias/microinfarctions, 5 juxtacortical involvement and 3 infratentorial infarcts. Leptomeningeal involvement was evident in only 1 patient after rabies vaccination. Fluorescein angiography was abnormal in 7 cases. Tonal audiometry revealed unilateral hypoacusia in 5 patients, 3 with low frequency hearing loss. Immunosuppressive treatment was indicated in all cases. Patient follow up ranged between 6 months and 9 years, only 1 patient was lost to follow up after three years. CONCLUSION: Susac Syndrome is probably both underdiagnosed and misdiagnosed. Early and aggressive immunosuppressive treatment is indicated in order to prevent potential disabilities.

Pregabalin-induced parkinsonism: a case report.

BACKGROUND: : Pregabalin (PGB) is an L-type, voltage-dependent, calcium-channel blocker, useful for the treatment of neuropathy pain and some forms of seizures. We report the case of a 64-year-old woman who developed full-blown parkinsonism after PGB administration. CASE REPORT: : A female patient who developed diabetic sensory-motor polyneuropathy began treatment with gabapentin 300 mg plus amitriptyline 25 mg at the age of 56 years, with good tolerance. Eight years later, PGB 150 mg was added, after 3 months she developed a parkinsonian-like syndrome with axial symptoms, bilateral symmetric postural tremor, bradykinesia, and rigidity in both upper and lower limbs. Unified Parkinson's Disease Rating Scale motor score was 27/108 points at this time. Clear link to PGB introduction as well as symmetric limb involvement and symptom intensity made us suspect drug-induced parkinsonism. Pregabalin was withdrawn. Six months later, the patient had almost completely recovered; her Unified Parkinson's Disease Rating Scale motor score dropped to 4/108; and 3 months after that, it was 0. CONCLUSION: : Although some cases of tremor were reported in clinical trials on PGB, to our knowledge, this is the first report of full-blown parkinsonism associated with PGB use. Vigilance of PGB-treated patients is recommended.