Growing Teratoma Syndrome After Chemotherapy For Ovarian Immature Teratoma.

The management of ovarian immature teratoma (IT) presents several challenges. It occurs both in children and adults and therefore is managed by pediatric oncologists as well as adult and gynecologic oncologists. Treatment approach; however, varies significantly. Unlike pediatric patients in whom surgery is considered the mainstay of treatment, adult providers routinely prescribe postoperative chemotherapy. Management of recurrent IT can be challenging. Growing teratoma syndrome may occur after treatment of recurrent IT. We report the development and management of this phenomenon in a pediatric patient who had several recurrences of her IT.

A previously unknown mutation in the pyruvate kinase gene (PKLR) identified from a neonate with severe jaundice.

We report a neonate with early and severe hemolytic jaundice and low erythrocyte pyruvate kinase enzymatic activity (<2 U/g hemoglobin, reference interval 9-22). We found her asymptomatic mother to be heterozygous for a novel PKLR mutation (c.1573delT) with an erythrocyte PK activity of 6.2 U/g hemoglobin. Her asymptomatic father was heterozygous for the common Northern European PKLR mutation (c.1529A) with an erythrocyte PK activity of 3.6 U/g. The neonate was a compound heterozygote with both mutations, but with no other mutations identified by sequencing a panel of 27 genes involved in severe neonatal jaundice.