Neuroimaging Pearls from the MDS Congress Video Challenge. Part 1: Genetic Disorders.

We selected several "imaging pearls" presented during the Movement Disorder Society (MDS) Video Challenge for this review. While the event, as implicated by its name, was video-centered, we would like to emphasize the important role of imaging in making the correct diagnosis. We divided this anthology into two parts: genetic and acquired disorders. Genetic cases described herein were organized by the inheritance pattern and the focus was put on the imaging findings and differential diagnoses. Despite the overlapping phenotypes, certain described disorders have pathognomonic MRI brain findings that would provide either the "spot" diagnosis or result in further investigations leading to the diagnosis. Despite this, the diagnosis is often challenging with a broad differential diagnosis, and hallmark findings may be present for only a limited time.

Vanishing white matter disease presenting as opsoclonus myoclonus syndrome in childhood--a case report and review of the literature.

BACKGROUND: Vanishing white matter disease is caused by mutations of the eukaryotic translation initiation factor 2B (EIF2B) and is a prevalent cause of inherited childhood leukoencephalopathy. Infantile and early childhood onset forms are associated with chronic progressive neurological signs, with episodes of rapid, neurological, and poor prognosis, with death in few months or years. In contrast, onset in late childhood and adult onset is rare and is associated with long-term survival because of milder signs and slow progression. PATIENT DESCRIPTION: We present a patient with a genetically proven vanishing white matter disease, typical brain MRI, presenting with opsoclonus myoclonus in early childhood and a delayed development of adult multifocal dystonia and schizoaffective disorder with continued survival. In addition we have also reviewed the relevant literature based on 42 previous articles summarizing clinical details of 318 individuals with vanishing white matter disease (single case reports to case series). In 283, genetic mutation of EIF2B was confirmed with the onset of vanishing white matter disease reported as antenatal (seven), infantile (eight), early childhood (107), between infantile and early childhood (20), late childhood (25), between early and late childhood (three), adult (68), and between late childhood and adult (21). CONCLUSIONS: Various movement disorders have been described with vanishing white matter disease either at presentation (mimicking an opsoclonus myoclonus syndrome) or in adulthood (dystonia and myoclonus) with continuing survival. Relatively preserved cognition is a novel presentation and is reported in this article along with a comprehensive literature review.

A seizure care pathway in the emergency department: preliminary quality and safety improvements.

Aim. To evaluate the utility of a seizure care pathway for seizure presentations to the emergency department (ED) in order to safely avoid unnecessary admission and to provide early diagnostic and therapeutic guidance and minimize length of stay in those admitted. Methods. 3 studies were conducted, 2 baseline audits and a 12-month intervention study and prospective data was collected over a 12-month period (Nov 2008-09). Results. Use of the Pathway resulted in a reduction in the number of epilepsy related admissions from 341 in 2004 to 276 in 2009 (P = 0.0006); a reduction in the median length of stay of those admittedfrom 4-5 days in the baseline audits to 2 days in the intervention study (P ≤ 0.001); an improvement in time to diagnostic investigations such as CT brain, MRI brain and Electroencephalography (P ≤ 0.001, P ≤ 0.048, P ≤ 0.001); a reduction in readmission rates from 45.1% to 8.9% (P ≤ 0.001); and an improvement in follow-up times from a median of 16 weeks to 5 weeks (P < 0.001). From a safety perspective there were no deaths in the early discharged group after 12 months follow-up. Conclusion. The burden of seizure related admissions through the ED can be improved in a safe and effective manner by the provision of a seizure care pathway.