Case #1. Inter-ictal EEG. Difficult Diagnosis Pediatrics. 15 mos girl with medically refractory infantile spasms 2/13/2010
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1 Difficult Diagnosis Pediatrics Joseph E. Sullivan M.D. Assistant Professor of Clinical Neurology & Pediatrics Director, UCSF Pediatric Epilepsy Center University of California San Francisco Case #1 15 mos girl with medically refractory infantile spasms Inter-ictal EEG Previously normal until 3 months old Initial seizure semiology- glazed look followed by tonic stiffening of BUE lasting seconds First exam-normal MRI was normal First EEG 1
2 Ictal EEG Question 1. Infantile spasms are most commonly caused by a. Inborn errors of metabolism b. Structural brain abnormalities c. Tuberous sclerosis d. Known genetic syndromes 15% 41% 23% 22% Question 2 Which of the following are potential treatment options for children with infantile spasms: Treatment Vigabatrin IM adrenocorticotropic hormone (ACTH) PO prednisolone focal cortical resection All of the above 6% 19% 1% 2% 72% She was initially started on phenobarbital and was seizure free for 1 month She then began having classical infantile spasms with developmental regression Repeat EEG
3 EEG 1 month later Treatment course IM ACTH-loss of head control and going spasms Vigabatrin-ineffective Topiramate-ineffective Physical exam-15 mos Simplified left ear Awake, alert, interactive, no babbling Cranial nerves intact Diffuse truncal hypotonia Unable to grasp block with right hand Next steps? Question 3 Which of the following studies is MOST helpful in pre-surgical evaluation of a child with medically refractory infantile spasms: 1. High resolution brain MRI 2. Ictal EEG 3. Brain FDG-PET 4. Both A&C 5. All of the above 17% 1% 7% 24% 50%
4 Repeat MRI FDG-PET Surgical approach Medically refractory infantile spasms WITH an epileptic encephalopathy Early focal EEG findings Mild right hemiparesis Concordant MRI and PET abnormalities Recommended left frontal lobectomy Question 4 In an appropriately selected group of children with infantile spasms, what percentage of patients undergoing surgical resection for infantile spasms become spasm free? a. 10% b. 30% c. 50% d. 90% 5% 23% 49% 23%
5 Post-op course Immediate post-op mild right hemiparesis Pathology with diffuse cortical dysplasia & hypomyelination 1 month post-op- more alert, beginning to babble, hemiparesis resolved, able to use right hand more than pre-operatively 4 months post-op-seizure free, beginning to sit without support Case #2 2 yo with altered mental status Previously healthy 2.5 yo boy began acting more listless over last 24 hours Vomiting x1 the day prior and 3x this AM At pediatrican-afebrile, normal vital signs Abrupt onset of intermittant horizontal nystagmus and altered mental status Question 1 Which of the following tests should be considered when evaluating an encephalopathic child? a. head CT b. lumbar puncture c. electroencephalogram (EEG) d. toxicology screen e. All of the above 94% 2% 2% 1% 2%
6 Sent to Emergency Department Urine Toxicology screen-negative Head CT-normal CSF- WBC=0, RBC=19, glucose=58, protein=35 Remained altered 1mg lorazepam given Looked at mom and said mommy Transferred to our PICU Ongoing intermittant horizontal nystagmus and tonic upgaze Would reach purposefully for objects Other times it appeared he was reaching for something that was not there EEG was performed Question 2 An ictal event presenting as altered mental status, pallor, eye deviation, and vomiting best localizes to the: Right central spikes a. frontal lobe b. mesial temporal lobe c. posterior temporal/occipital lobe d. these symptoms are nonlocalizing 26% 23% 18% 33%
7 Left central spikes Generalized spike/wave Bi-posterior spikes OIRDA 7
8 Question #3 Hospital course A multi-focal EEG in an otherwise normal child should raise the concern for a: a. progressive neurodegenerative disease b. epileptic encephalopathy c. idiopathic age related epilepsy syndrome d. encephalitis 2 days later completely back to baseline Follow-up EEG 3 weeks later-normal Diagnosis? Panayiotopoulous Syndrome Typical age of presentation 3-5 years Prevalence 2-3/1000 Autonomic symptoms are primary ictal manifestation Vomiting (ictal emesis), fully conscious at onset I feel sick Tachycardia, breathing irregularities Pallor, flushing, cyanosis Listlessness or agitationa in >20% of episodes child becomes gradually or suddenly unresponsiveness Seizures are often prolonged- autonomic status with half of episodes lasting many hours As ictus progresses eye deviation and head deviation are often seen Episode may end with a hemiconvulsion or generalized convulsion Usually child returns to baseline after several hours of sleep EEG shows shifting or multiple spikes that are accentuated in sleep Spikes often have an occipital predominance (although 1/3 don t have occipital spikes) 8
9 Prognosis & Treatment Seizures are infrequent: most children have 1-5 seizures Remits within 2 years No cognitive 20% may go onto develop Rolandic epilepsy Risk of epilepsy as an adult is not increased Treatment with AEDs is often unnecessary except if seizures are frequent or very prolonged Treat autonomic status with benzodiazepines 9
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