Three cases of Troyer syndrome in two families of Filipino descent.

Troyer syndrome is a complex hereditary spastic paraplegia (HSP) due to a mutation in SPG20 first reported in the Old Amish population. A genetic mutation in SPG20 is responsible for a loss of function of the protein spartin in this disease. Since its initial report, this syndrome has also been reported in Turkish and Omani families. Here we report the case of three patients of Filipino descent with Troyer syndrome. Whole exome sequencing (WES) identified a homozygous mutation c.364_365delAT which predicts p.Met122Valfs*2 in SPG20. This is the same mutation identified in affected patients from the Omani and Turkish families, and is the first report of this syndrome in the Filipino population. Although Troyer syndrome has characteristic phenotypic manifestations it is likely underdiagnosed due to its rarity and we expect that WES will lead to identifying this disease in other individuals. © 2016 Wiley Periodicals, Inc.

Tolerability of Japanese Encephalitis Vaccine in Pediatric Patients.

BACKGROUND.: Japanese encephalitis virus (JEV) is a mosquito-borne flavivirus endemic to parts of Asia. Manufacture of JE-VAX, the mouse brain-derived vaccine against JEV, was discontinued in February 2011. IXIARO, an inactivated cell culture-derived vaccine, was approved in 2009 for use in adult patients. Although IXIARO was not licensed for pediatric patients until 2013, our clinic routinely used this vaccine in at-risk children starting in 2011. The purpose of this study was to review our experience as to the tolerability of the new IXIARO vaccine in children. METHODS.: We performed a retrospective chart review of all patients less than 18 years of age who received at least 1 dose of IXIARO in our Family Travel Clinic from November 2011 through August 2014. Subjects' electronic medical records were reviewed for any documented medical visits within 3 months after vaccination. Each visit was assessed for possible adverse events with relationship to vaccine administration as determined by the reviewer. RESULTS.: Ninety-two patients less than 18 years of age received a total of 145 doses of IXIARO between November 2011 and August 2014. Seven adverse events were documented. Only 1 was deemed to be possibly related. No serious adverse events were found on chart review. CONCLUSIONS.: Our study reinforces the recent decision to expand IXIARO vaccination to the pediatric population. The experience in our clinic since vaccine introduction shows it to be overall tolerable when used in routine clinical practice. Practitioners should feel comfortable recommending vaccination against JEV for any pediatric traveler to an area of risk.