Floppy Adolescent Joshua Rocker, MD Schneider Children’s Hospital Long Island Jewish Medical Center

15 y/o female presents with sub-acute onset of ptosis, drooling, inability to move neck, dysarthria, and generalized fatigue.

History Symptoms started last night- progressively worsened. No recent travel No recent illnesses No recent bug/tick bites No new foods Don’t drink, smoke, drug, have sex Yes, I am leaving something terribly important out… ha ha (but what if she was alone and unable to communicate)

Look at numbers before patient 37.6 C BP- 110/80 HR- 84 RR- 20, O2 sat-98%.

Now… look at patient PE: – Significant b/l ptosis, EOMI, vision intact (no diplopia), TMs clear, no nasal d/c, no exudates. – CTA b/l, no retractions, no tachy or hyperpnea – SS rrr no m,g,r – Soft, NT, ND, no masses, normoactive BS – No rashes, no tick/bug bites

Neuro exam Sensory – normal Reflexes – normal Motor – 4-5/5 distal muscles – 3/5 proximal muscles – B/l ptosis, drooling, slurred speech, + gag.

Ddx Infections – Botulism – Polio – Tick Paralysis Auto-Immune – Eaton Lambert – Guillain-Barre – Myasthenia Gravis Toxins – Organophosphates – Heavy metals Genetic – SMA (Spinal Muscular Atrophy) – Muscular Dystrophy – Potassium-related periodic paralysis – Familial Dysautonomia (Riley-Day Syndrome)

Exclude Stuff Genetic – Familial Dysautonomia age – Potassium-related periodic paralysis duration – Muscular Dystrophy Acuity, age – SMA Type 1-3 Infections – Botulism? – Polio? – Tick? Travel? Toxins – Exposure?

Auto-immune Guillain-Barre – Demylination – Landry’s ascending gradual – Miller-Fischer!! – Post-viral (URI/AGE) – Lost reflexes – Tap, MRI, EMG Eaton Lambert – M>F – >40s – Assoc with malign (small cell CA, etc) – Proximal m weakness – Dry eyes,skin,mouth – Prickling,tingling – Strength better--worse with use. – Cause- antibody to CC at NM junction

Myasthenia Gravis!!! Yes, she was diagnosed 6 months ago and has been non-compliant…

Myasthenia ACh receptor antibody F>>M Transient neonatal vs juvenile EMG Tensilon test Avoid: succ, aminoglycosides, macrolides

Myasthenia Treatment – Cholinesterase inhibitors – IVIG – Steroids – Plasmapharesis – Immunosuppresants – Thymectomy

Myasthenia crisis vs Myasthenic with Cholinergic overdose Difficult to differentiate – hx Crisis Supportive care Acute treatment with longer acting ACholinest Inh Cholinergic Overdose with – SLUDGE – Unresponsive to ACholinest Inh

Confused? Questions?

Thank you!!!