Transcript Young man with progressive neurological decline

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