Capsular Warning Syndrome Leading to Acute Ischemic Stroke in a Pediatric Patient Secondary to Varicella Zoster Virus.

We report the case of a 3-year-old boy who presented with recurrent stereotyped transient episodes of left sided weakness consistent with capsular warning syndrome (CWS) which eventually progressed to acute ischemic stroke (AIS). He received thrombolytic therapy with tissue plasminogen activator. Workup was notable for positive CSF varicella (VZV) PCR, and positive CSF and serum VZV IgG and negative IgM. On further history, he was unvaccinated and had a rash consistent with VZV 5 months prior to presentation. This case highlights the importance of recognizing CWS given the increased risk of progression to AIS. In addition, it emphasizes the importance of considering VZV vasculopathy in pediatric AIS and inquiring about infectious history and immunization status despite high rates of vaccination in the United States.

Epilepsy in Prader-Willi syndrome: clinical characteristics and correlation to genotype.

Prader-Willi syndrome (PWS) is a genomic imprinting disease secondary to the loss of a functional paternal copy of 15q11-q13. Unlike its related imprinting disorder, Angelman syndrome, PWS has not been regarded as a risk factor for epilepsy. A retrospective analysis of 92 patients with PWS identified 24 (26%) with seizures. Twenty-two of these (92%) were affected by focal epilepsy and only two (8%) had generalized epilepsy. The most common seizure type was staring spells (67%). Correlation to genotype analysis showed deletions were more common in patients with epilepsy than in patients without epilepsy. The epilepsy syndromes were easy to control with a single antiepileptic drug in most cases. Three patients (11%) had had febrile seizures. These findings suggest that PWS may be a risk factor for epilepsy, which can manifest with focal features. Patients with PWS with a deletion genotype showed a trend toward developing seizures compared with patients with other genotypes in our series, even though this difference did not achieve statistical significance.

Central Sleep Apnea With Sodium Oxybate in a Pediatric Patient.

ABSTRACT: A 12-year-old girl with normal neurodevelopment and narcolepsy type 1 presented with unexpected central apneas in response to sodium oxybate (SO). The patient underwent overnight polysomnography on SO (2.75 + 2.5 grams) which showed an apnea-hypopnea index of 4.3 events/h, and all the events were central apneas. A majority of central apneas clustered at about 1.5 hours after the first dose of SO. Remarkably, after a second dose of SO that was 0.25 grams smaller, she did not exhibit clusters of central sleep apneas. However, she did experience similar but milder breathing abnormalities that did not meet criteria to be scored as central apneas or hypopneas. Based on this observation, there may be an association between SO treatment and the development of central apnea. Further polysomnographic research on pediatric patients taking SO would help determine if there is a significant association between SO treatment and the development of central apnea in the pediatric population.

Unusually Prolonged Presentation of Designer Drug Encephalopathy Responsive to Steroids.

The availability and use of novel psychoactive substances has risen dramatically over the last decade. The unpredictability of their toxicity constitutes a real challenge. We report a case of an adolescent who developed prolonged encephalopathy after ingesting "Hot Molly," which was found to contain the novel psychoactive substance, methylenedioxybenzylpiperazine when analyzed by high resolution mass spectrometry assay. This is the first case of human toxicity from methylenedioxybenzylpiperazine ingestion in the medical literature confirmed by body fluid analysis presenting with significant and prolonged encephalopathy. The prolonged course may be due to CYP2D6 inhibition from a combination of the methylenedioxyphenyl moiety and the patient's ultrarapid metabolizer pharmacokinetics. The response to high dose corticosteroids suggests a possible inflammatory effect that warrants further investigation.