CASE REPORT Daina Pastare Latvia Case report Male, 50 years 2013 - PowerPoint PPT Presentation

CASE REPORT Daina Pastare Latvia

Case report ◦ Male, 50 years ◦ 2013 – numbness in his left cheek ◦ 2014 – weakness in right leg, «could not longer play basketball» ◦ From 2015 – slowly progressing weakness in legs, balance problems ◦ Arterial hypertension, Tab. Perindopril 10 mg/day

Clinical findings - 2016 ◦ Slightly diminished sensation on left side of the face ◦ Central type left facial palsy ◦ Sustained nystagmus on horizontal gaze ◦ Mild paresis ir right arm – BMRC grade 4 ◦ Reflexes dextra (+++) > sinistra (++), extensor plantar response dextra ◦ Mild truncal and limb ataxia dextra>sinistra , mild instability in Romberg’s test ◦ Milda gait ataxia ◦ Fully ambulatory ◦ EDSS = 2.5

2016 2018

2016 2018

2018

Laboratory ◦ Routine blood and urine tests – N ◦ ANA IgG; ENA IgG; ANCAc IgG (PR-3 IgG); ANCAp IgG (MPO IgG); ds DNS IgG; antiphospholipid IgM and IgG; RF; ESR; AKE; Beta 2 glycoprotein I IgG IgM, IgA, lupus anticoagulant – N ◦ Anti - HIV ½ ; RPR; Anti HCV, HBs Ag, Borrelia burgdorferi IgM and IgG - negative ◦ Ceruloplasmin; Cu 24h/urine – N ◦ Vitamin D3 (25-OH) – 7.0 ng/ml (30-70) ◦ Vitamin B12 – 81.57 pg/ml (191 – 663) ◦ PSA - N ◦ Onconeural antibodies – negative ◦ Aquaporin 4 IgG antibodies – negative ◦ Anti MOG antibodies - negative

Lumbar puncture ◦ Cell count - 5/mkl, total protein – 0.41 g/l, lactate -1.81 mmol/l , glu -3.64 mmol/l , IgG – 40.2 mg/l (10.0-30.0) ◦ Oligoclonal bands – negative ◦ HSV1/2 DNA (PCR); VZV DNA (PCR), CMV DNA (PCR); EBV DNS (PCR) – negative ◦ Borrelia burgdorferi IgG – negative ◦ TBC-DNA - negative ◦ Toxoplasma DNA, cryptococcus antigen, anaplasma phagocytophilus DNA (PCR) - negative ◦ Flow cytometry – no data about lymphoproliferative disease

Other investigations ◦ CT chest – no abnormalities, no lymphadenopathy ◦ CT abdomen – cholecystolithiasis ◦ Gastroscopy – hyperemic mucosa ◦ Colonoscopy – no pathology

PET/CT ◦ Two hypermetabolic lesions in left cerebellum and left middle cerebellar peduncle ◦ No other hypermetabolic lesions/lymph nodes in body

Brain biopsy ◦ 2017 - from one of the cerebellar lesions ◦ Histological differential between chronic inflammatory demyelinating and histyocytic proliferative process ◦ The morphology was not absolutely typical for either of the disorders ◦ Infectious process was also suggested to be in the differential ◦ Some features raising the possibility of Rosay – Dorfman and Erdham-Chester disease? ◦ Genetic testing of hystiocytosis – negative

Brain biopsy

Brain biopsy - 2017

Angiography ◦ CT angiography – left a. subclavia stenosis 90-100% (subocclusion) , right a. vertebralis proximal stenosis 80-90%, left a. vertebralis proximal stenosis 80-90%, left ACI proximal stenosis 45-55%, right ACI proximal stenosis 30-40% ◦ May 2019 – PTA+stent insertion in left a. subclavia ◦ Tab. Clopidogreli/Aspirini, Tab. Atorvastatini

Treatment ◦ 2016, 2017, 2018 – Sol. Solu-medrol 1000 mg/ 5 days, no significant improvement ◦ 2017 - PLEX (5x) – no significant improvement ◦ 2017 – intermittent i/v Sol. Cyclophosphamidi - progression ◦ 2018 – now: Sol. Rituximab (4 infusions) - ongoing progression

Clinical findings - 2019 ◦ Bilateral severe sustained nystagmus ◦ Central type left facial palsy ◦ Moderate dysarthria, dysphonia ◦ Moderate dysphagia ◦ Episodic hemifacial spasm in left side ◦ Mild paresis ir right arm – BMRC grade 4 ◦ Both legs - BMRC grade 5 ◦ Reflexes dextra (+++) > sinistra (++), bilateral extensor plantar response ◦ Moderate bilateral spasticity in legs dextra > sinistra ◦ Urinary incontinence ◦ Severe instability in Romberg’s test ◦ Bilateral moderate limb ataxia dextra>sinistra; legs > arms ◦ Severe gait ataxia, spastic – atactic gait, bilateral assistance > 5 meters (EDSS=6.5)