Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation.

Defects of the glycosylphosphatidylinositol (GPI) biosynthesis pathway constitute an emerging subgroup of congenital disorders of glycosylation with heterogeneous phenotypes. A mutation in the promoter of PIGM, resulting in a syndrome with portal vein thrombosis and persistent absence seizures, was previously described in three patients. We now report four additional patients in two unrelated families, with further clinical, biochemical and molecular delineation of this unique entity. We also describe the first prenatal diagnosis of PIGM deficiency, allowing characterization of the natural history of the disease from birth. The patients described herein expand the phenotypic spectrum of PIGM deficiency to include macrocephaly and infantile-onset cerebrovascular thrombotic events. Finally, we offer insights regarding targeted treatment of this rare disorder with sodium phenylbutyrate.

Thrombocytopenia and Bloodstream Infection: Incidence and Implication on Length of Stay in the Pediatric Intensive Care Unit.

The incidence and prognosis of thrombocytopenia in critically ill patients with bloodstream infection (BSI) is not well delineated in the pediatric intensive care unit (PICU) setting. We assessed these variables in our PICU and sought to determine whether thrombocytopenia could serve as a prognostic marker for length of stay (LOS). The study was conducted at the medical PICU of a university hospital, on all critically ill pediatric patients consecutively admitted during a 3-year period. Patient surveillance and data collection have been used to identify the risk factors during the study period. The main outcomes were BSI incidence and implication on morbidity and LOS. Data from 2,349 PICU patients was analyzed. The overall incidence of BSI was 3.9% (93/2,349). Overall, 85 of 93 patients (91.4%) with BSI survived and 8 patients died (8.6% mortality rate). The overall incidence of thrombocytopenia among these 93 patients was 54.8% (51/93) and 100% (8/8) for the nonsurvivors. Out of the 85 survivors, 27 thrombocytopenic patients were hospitalized for >14 days versus 14 of nonthrombocytopenic patients ( p = 0.007). Thrombocytopenia was associated with borderline significance with an increased LOS (adjusted odds ratio = 3.00, 95% confidence interval: 0.93-9.71, p = 0.066). Thrombocytopenia is common in critically ill pediatric patients with BSI and constitutes a simple and readily available risk marker for PICU LOS.