Paroxysmal dyskinesias (PD) are hyperkinetic movement disorders where patients usually retain consciousness. Paroxysmal dyskinesias can be kinesigenic (PKD), nonkinesigenic (PNKD), and exercise induced (PED). These are usually differentiated from each other based on their phenotypic and genotypic characteristics. Genetic causes of PD are continuing to be discovered. Genes found to be involved in the pathogenesis of PD include MR-1, PRRT2, SLC2A1, and KCNMA1. The differential diagnosis is broad as PDs can mimic psychogenic events, seizure, or other movement disorders. This review also includes secondary causes of PDs, which can range from infections, metabolic, structural malformations to malignancies. Treatment is usually based on the correct identification of type of PD. PKD responds well to antiepileptic medications, whereas PNKD and PED respond to avoidance of triggers and exercise, respectively. In this article, we review the classification, clinical features, genetics, differential diagnosis, and management of PD.
Background The Xq22.2 q23 is a complex genomic region which includes the genes MID2 and PLP1 associated with FG syndrome 5 and Pelizaeus–Merzbacher disease, respectively. There is limited information regarding the clinical outcomes observed in patients with deletions within this region. Methods We report on a male infant with intrauterine growth retardation (IUGR) who developed head titubation and spasticity during his postnatal hospital course. Results Chromosome microarray revealed a 6.7 Mb interstitial duplication of Xq22.2q22.3. Fluorescence in situ hybridization showed that the patient's mother also possessed the identical duplication in the Xq22.3q22.3 region. Among the 34 OMIM genes in this interval, the duplication of the PLP1 (OMIM# 300401) and MID2 (OMIM# 300204) appears to be the most significant contributors to the patient's clinical features. Mutations and duplications of PLP1 are associated with X‐linked recessive Pelizaeus–Merzbacher disease (PMD). A single case of a Xq22.3 duplication including the MID2 has been reported in boy with features of FG syndrome. However, our patient's clinical features are not consistent with the FG syndrome phenotype. Conclusion Our patient's clinical features appear to be influenced by the PLP1 duplication but the clinical effect of other dosage sensitive genes influencing brain development cannot be ruled out.
estimated for these hospitalizations. The primary outcome variables of interest included in-hospital mortality (IHM), length of stay (LOS), and hospitalization charges (HC [inflation-adjusted to year 2010). Multivariable linear regression analyses were used to examine the association between MV and LOS and hospital charges. Multivariable logistic regression was used for in-hospital mortality. Since LOS and HC were skewed, they were log transformed and used as dependent variables in the regression models. The effects of age, gender, race, type of admission, co-morbid burden, and hospital region were adjusted in the regression models. Results: During the study period a total of 1,737 hospitalizations had acute respiratory failure following bone marrow transplantation. The mean age of hospitalizations was 44.5 years. Males comprised 55% of all hospitalizations. MV was needed for less than 96 consecutive hours in 21.2% of patients and 48.9% had MV for 96 consecutive hours or more. A total of 996 patients died in hospitals (overall IHM rate of 57.4% for all hospitalizations). IHM rates were 35.1%, 62.1%, and 69.1% among those who did not require MV, who had MV for less than 96 consecutive hours, and had MV for 96 consecutive hours or more, respectively. The mean LOS and HC for those who did not have any form of MV were 43.5 days and $518,990 respectively. The mean LOS and HC for those who had MV for less than 96 consecutive hours were 38.6 days and $483,410, respectively. The mean LOS and HC for those who had MV for 96 consecutive hours or more were 53.8 days and $743,197, respectively. Following adjustment for all confounding factors, those who had MV for less than 96 hours (OR=3.07, p<0.01) and those who had MV for 96 hours or greater (OR=4.10, p<0.01) were associated with significantly higher odds for IHM. Following adjustment for all confounding factors, those who had MV for 96 hours or greater were associated with significantly higher hospitalization charges and longer hospital LOS (p<0.0001). Conclusions: Mechanical ventilation is an independent predictor of mortality in hospitalized bone marrow transplant patients with respiratory failure. Mortality was highest in those needing the mechanical ventilation greater than 96 hours. In hospital resource utilization was significant.
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