Table 1 Clinical, laboratory, neuroradiological findings and therapies for each Susac Syndrome episode

First episode September 2002

Headache, facial paresthesias, hemianopsia, amaurosis, tinnitus, vertigo

Blood

T2-hyperintense Gd-enhancing lesions (brain)

FO and RFA: retinal branch occlusion. Auditory examination: initial left neurosensorial hypoacusia. VEP, AEP: normal

None

IV MEP 20 mg bid (3 days). IV GCV 5 mg/Kg bid (14 days)

Resolution

CD4+:355/μL

VL: 2000 c/mL

VDRL and TPHA neg

CSF

Cells: 5/mL

Proteins: 89 gr/dL

Microbiology * neg

Viral genomes ** neg

VL<50 c/mL

First relapse March 2008

Headache, facial, lingual, oral and hand paresthesias

Blood

Increased T2 hyperintensity of old lesions; new T2 hyperintense non Gd-enhancing lesion (brain) (Figure 1a)

EEG: focal slow abnormal activity in the left temporal region

cART: TDF, FTC, ATV (6 weeks)

Oral PDN 50 mg qd (5 days), then 25 mg qd (3 days). Stop cART

Worsening

CD4+: 260/μL

VL<50 c/mL

VDRL and TPHA neg

First relapse, follow-up (SS diagnosis) April 2008

Left hemiparesis, acute left hypoacusia

CSF

Further increased T2 hyperintensity of old lesions; new T2 hyperintense non Gd-enhancing lesions (cerebellum) (Figure 1b)

Visual field: central scotoma of right eye, arcuate scotoma in the superior and inferior field of left eye. FO: right retinal vasculopathy. RFA: acute bilateral retinal vasculitis with reduced perfusion. VEP: absent response of right eye, reduced response of left eye; AEP: mixed bilateral hypoacusia.

None

IV MEP 1 g qd (5 days), then oral PDN 50 mg qd (10 days). cART: TDF, FTC, ATV

Transient improvement

Cells: 1/mL

Proteins: 23 g/dL

Viral genomes*: neg

Oligoclonal bands: neg

IgG: 64 mg/dL

Albumin ratio: 4.52

Intrathecal HSV-1/2, VZV and CMV-specific IgG synthesis: neg

Second relapse April 2008

Blurred vision, hallucinations, gait and balance deficit

Blood c-ANCA, p-ANCA, anti cardiolipin, anti-beta 2-gp, LA and ANA: neg

New T2 hyperintense lesions with mild Gd-enhancement

cART: TDF, FTC, ATV (3 weeks)

IV MEP 1 g qd (6 days), then oral PDN 75 mg qd

Transient improvement

Third relapse May 2008

Worsening of previous symptoms

Blood

New Gd-enhancing lesions (brain and brain stem) (Figure 1c)

cART: TDF, FTC, ATV (6 weeks). Oral PDN 75 mg qd (5 days)

IV Ig 15.5 g qd (5 days). IV MEP 40 mg bid (6 days)

No changes

CD4+: 113/μL

VL<50 c/mL

Third relapse, follow-up May 2008

Persistence of symptoms

CSF

cART: TDF, FTC, ATV (8 weeks). IV MEP 40 mg bid (6 days)

IV MEP 1 g qd (3 days), then oral PDN 150 mg qd, tapered to 5 mg in 16 weeks. IV GCV 5 mg/Kg bid (14 days), then oral V-GCV 450 mg qd (4 weeks). IV ACV 15 mg/Kg tid (14 days), then oral ACV 800 mg q5h (3 weeks)

Improvement

Cells: N.A.

Proteins: 172 g/dL

Fourth relapse November 2008

Vertigo, visus deficit

Blood

New small Gd-enhancing lesions (cerebellum) ( Figure 1d)

cART: TDF, 3TC, ABV. Oral PDN 5 mg

IV MEP 1 g qd (3 days). IV ACV 15 mg/Kg tid (14 days), then oral ACV 400 mg bid (4 weeks)

Improvement and subsequent stabilization

CD4+: 536/μL

VL<50 c/mL