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We report a patient with Sturge-Weber syndrome without facial angioma, who presented with seizures and normal initial imaging results. The patient experienced several years without seizures before a sudden increase in seizure frequency, followed by an atypical evolution of imaging findings prompting biopsy to establish the diagnosis. This case highlights not only the rare presentation of isolated leptomeningeal angiomatosis, but also the potential for atypical evolution of imaging findings through the course of the disease. We detail the imaging findings of our case and review the potential pathophysiological basis for this appearance. Our experience suggests that repeat imaging is warranted in patients with suspected Sturge-Weber syndrome or those with intractable cryptogenic epilepsy, because some imaging features of Sturge-Weber syndrome may manifest over time., (Copyright © 2013 Elsevier Inc. All rights reserved.)

Amantadine has demonstrated efficacy in small series for absence and myoclonic type seizures. We examined the efficacy of amantadine for treating refractory absence seizures in a cohort of pediatric patients. We retrospectively reviewed medical records for patients with absence seizures treated with amantadine at Cook Children's Medical Center after January 2007. Abstracted data included sex, age at initiation, concomitant antiepileptic drugs, amantadine dosing, and seizure frequency. Outcomes at 3, 6, and 12 months after initiation were categorized as >90%, ≥50%, or <50% reduction in seizure frequency. Of 13 patients included in the study, many were exposed to multiple antiepileptic drugs (median, 3; range, 1-6). Three were implanted with a vagus nerve stimulator. A response of at least 50% seizure reduction was reported in more than 50% of patients reviewed at 3, 6, and 12 months after initiating treatment. Among responders, a majority had >90% reduction in seizure frequency. Amantadine may constitute an efficacious alternative treatment for refractory absence seizures., (Copyright © 2012 Elsevier Inc. All rights reserved.)

A pharmacokinetic study of phenytoin and phenobarbital with nonradioactive isotopes was performed in nine neonates in an intensive care unit setting. A single-pulse dose of either labeled phenobarbital (1,3-(15)N, 2-(13)C) or labeled phenytoin (2-(13)C, 1, 3-(15)N) was administered to neonates who manifested gestation between 25 and 40 weeks and were receiving maintenance medication. Blood samples were collected at fixed intervals, and with a computerized gas chromatography mass spectrometry system, plasma concentrations of the labeled and unlabeled drug in relation to time administered were obtained. According to the calculations obtained from labeled analogue, several kinetic characteristics related to drug absorption, clearance, and elimination were determined. The use of a nonradioactive labeled isotope overcomes the limitations of conventional pharmacokinetic methodology and can be specifically useful in neonates and infants in whom volumes of distribution are rapidly changing and steady state is not achieved.

We report a 13-year-old male who presented with bilateral disc edema after a febrile illness. Rapid loss of vision prompted corticosteroids treatment, which reversed the visual loss and optic disc findings. Both his visual function and disc edema proved exceedingly sensitive to steroids, and he required increasingly slow and prolonged corticosteroids taper to avoid relapse over a period of 1 year. Ultimately, profound visual loss was reversed three times and only after exceptionally slow steroid weaning. Comprehensive systemic investigations and neuroimaging were initially unrevealing. Late in the course of disease, evidence of seroconversion was identified in his serum and cerebrospinal fluid with positive varicella zoster virus antibodies titers. Varicella zoster virus-related optic nerve pathology may present clinically with profound visual loss and disc edema and may reverse only with high-dose corticosteroids treatment. Physicians should carefully consider retesting with late varicella zoster virus titer in patients with relapsing-remitting, steroid-sensitive optic neuritides.