Young man with progressive neurological decline

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

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

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

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.

Video

2nd Video

Labs

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

Imaging, MRI FLAIR

Imaging, MRI FLAIR

Imaging, MRI T2

Imaging, MRI DWI

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: 350.9 ug/g (15-55)

Diagnosis

• Wilson’s disease