Novel MECP2 Mutation c.1162_1172del; p.Pro388* in Two Patients with Symptoms of Atypical Rett Syndrome.

We report 2 cases of girls with MECP2 gene variants who do not have typical clinical features of Rett syndrome except for intellectual disability and seizures. Both patients present with adipositas, macrocephalia, precocious puberty, and seizures. They have prominent eyebrows and a short neck as well as short and plump fingers. Sequencing by NGS revealed a novel variant c.1162_1172del; p.Pro388* in both patients.

The immature platelet fraction in hypertensive disease during pregnancy.

PURPOSE: The aim of our study was to elucidate the role of IPF in preeclampsia, because the immature platelet fraction (IPF) is available in most emergency departments. A number of parameters have been introduced to diagnose preeclampsia/HELLP syndrome. The defined cutoffs of angiogenic and antiangiogenic parameters, soluble fms-like tyrosine kinase 1 and placental growth factor, have been approved for clinical routine. However, these parameters need complex analysis and are expensive. METHODS: The data of 69 pregnant women between 20 and 42 weeks of gestation were analyzed in this retrospective monocentric study. 28 of them had preeclampsia, HELLP syndrome or partial HELLP syndrome fitting the Tennessee criteria (study group 1). Furthermore, 41 normotensive pregnant women were included as controls (study group 2). In both groups the IPF was analyzed. RESULTS: In this study, we demonstrated that the values of IPF were significantly higher in patients with hypertensive diseases than in normotensives, but could not distinguish between preeclampsia and HELLP syndrome. The absolute number of immature platelets of women with preeclampsia was significantly higher and those of HELLP syndrome were significantly lower than values of healthy women. The absolute number of immature platelets as well as mature thrombocytes helps to distinguish between HELLP syndrome and preeclampsia. CONCLUSION: IPF levels are higher in women with hypertensive pregnancy than in normotensive controls. They could be used to diagnose hypertensive diseases in pregnancy. To distinguish between preeclampsia and HELLP syndrome, thrombocytes or the absolute number of immature platelets is needed.