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Young man with progressive neurological decline. History of present illness 21 yo male with a progressive neurological decline over 2 months – Difficulties.

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Presentation on theme: "Young man with progressive neurological decline. History of present illness 21 yo male with a progressive neurological decline over 2 months – Difficulties."— Presentation transcript:

1 Young man with progressive neurological decline

2 History of present illness 21 yo male with a progressive neurological decline over 2 months – Difficulties with gait- unsteady, wide based, “stuck” – Dysarthria- severe, caretaker barely unable to understand over 2 month period – Sialorrhea – Tremors – affecting ability to eat, dress, ect – Incontinence – Syncope/LOC episodes – Decreased facial expression – Decreased PO intake, associated with nausea/vomiting, wt loss – Dependent on caretakers for ADL’s At baseline: very active and social, very well liked by foster family and housemates 3-4 months ago was playing basketball and running on the beach

3 Social history Currently living in adult foster home for past 2 years, after he could no longer complete an attempted degree at community college (became “sick”) Graduated high school, but had IEP. Grade school he did quite well academically (normal IQ on testing at age 15) – Was seen by MH as teen and dx with Autism and ADHD Significant gaps in social hx as patient “tragically removed from home” at age of 13, living in foster care since that time No tobacco, alcohol or drug use history

4 Family history Largely unknown – Biological mother died in car accident when he was 14 years old – Biological father unknown and presumed not to be alive – Half-sisters: healthy

5 Neurological Exam MS: Alert, O x 3, very hypophonic and dysarthric, one word answers, able to name and repeat, follow commands, upbeat mood CN: PERL, EOMI, Face symmetric, VFF, tongue midline but with tremor, V1-3 intact, equal shoulder shrug, equal palatal elevation Motor: Increased tone in lower ext > upper ext, 5/5 strength in all 4 ext Reflexes: 3+ left biceps rest of LUE 2+, 2+ RUE, 3+ patella b/l, 4+ ankles b/l, toes upgoing b/l, clonus that sustained for 8-9 beats, crossed adductor on RLE Sensation: Sensation to light touch intact throughout Coordination: Finger to nose with end point tremor R>L. Finger tapping and hand opening irregular and reduced amplitude. Heel to shin very bradykinetic, with slowed tapping of feet. Gait: Small, shuffling steps with decreased arm swing, very bradykinetic. Needs 1 person assit or walker to maintain balance. En block turning.

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7 Video

8 2 nd Video

9 Labs CBC, wnl except slightly depressed Plt ct (121) CMP- wnl UA- unremarkable Ammonia- 51 (11-53)

10 Imaging, MRI FLAIR

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12 Imaging, MRI T2

13 Imaging, MRI DWI

14 Rest of work-up TSH/T4, RPR, B12, folate- WNL Uric acid 3.9 (WNL) Serum copper 34 (70-140) 24 hr-urine copper 182 (<50) Ceruloplasmin<6 (20-60) Rechecked LFT and INR- WNL Liver US: Heterogeneous and coarsened parenchyma without focal lesion. Hepatology and Ophthalmology consults Liver biopsy: mild to moderate fibrosis, stage 2 – Hepatic copper concentration: ug/g (15-55)

15 Diagnosis Wilson’s disease


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