UC1: HealthLake Integrated NLP Demo

DISCHARGE SUMMARY — PEDIATRIC EPILEPSY MONITORING UNIT PATIENT: [REDACTED], 7-year-old female MRN: [REDACTED] DOA: 2024-11-18 DOD: 2024-11-22 ATTENDING: [REDACTED], MD — Pediatric Neurology CHIEF COMPLAINT: Increasing seizure frequency refractory to current AED regimen. HISTORY OF PRESENT ILLNESS: This is a 7-year-old female with a history of Dravet syndrome (SCN1A mutation confirmed) who presents for video-EEG monitoring due to breakthrough generalized tonic-clonic seizures occurring 3-4 times per week despite maximal doses of Clobazam and Stiripentol. Parents report seizures are provoked by fever and photic stimulation. Patient denies recent status epilepticus. No aspiration events. Patient does not have Lennox-Gastaut syndrome features at this time. CURRENT MEDICATIONS: 1. Clobazam (Onfi) 10 mg PO BID 2. Stiripentol (Diacomit) 500 mg PO TID 3. Levetiracetam (Keppra) 750 mg PO BID — being weaned 4. Cannabidiol (Epidiolex) 5 mg/kg/day PO BID 5. Diazepam rectal gel (Diastat) 10 mg PRN for clusters >5 min EEG FINDINGS: Continuous video-EEG over 96 hours demonstrated: - Interictal: Multifocal spike-and-wave discharges, maximum bilateral frontotemporal regions - Generalized 2.5-3 Hz spike-wave complexes lasting 2-4 seconds - Background: Diffuse slowing (theta range) consistent with epileptic encephalopathy - Three electroclinical seizures captured: generalized onset with bilateral tonic stiffening followed by clonic jerking, duration 45-90 seconds PROCEDURES: - Continuous video-EEG monitoring (96 hours) - MRI Brain with epilepsy protocol — No structural lesion identified - Genetic counseling consultation ASSESSMENT & PLAN: 1. Dravet syndrome with refractory generalized tonic-clonic seizures 2. Initiate Fenfluramine (Fintepla) 0.2 mg/kg/day, titrate over 4 weeks 3. Continue Clobazam and Stiripentol at current doses 4. Complete Levetiracetam wean over 2 weeks (ineffective) 5. Echocardiogram baseline prior to fenfluramine initiation 6. Follow-up in Epilepsy Clinic in 4 weeks 7. Seizure action plan updated for school nursing staff 8. Refer to ketogenic diet program if poor response to fenfluramine