Zellweger's Syndrome With PEX6 Gene Mutation in Mixteco Neonates Due to Possible Founder Effect.

Zellweger spectrum disorder (ZSD) is a group of autosomal recessive peroxisomal disorders caused by gene mutations that commonly present with symptoms of severe hypotonia, epileptic seizures, failure to thrive, hepatomegaly, craniofacial dysmorphisms, and sensorineural hearing loss. This article highlights three patients born with ZSD in Central California. All three patients were born to Mixteco mothers.

Can Fetal Umbilical Venous Blood Be a Reliable Source for Admission Complete Blood Count and Culture in NICU Patients?

Background: Minimizing initial neonatal blood draws and their associated pain is important. The placenta has ample fetal blood that is otherwise discarded; obtaining admission laboratory evaluations from fetal umbilical venous blood (FUVB) may provide a suitable alternative.

Objective: We hypothesized that obtaining an aerobic bacterial blood culture (BCX) and a complete blood count with manual differential (CBC/diff) from FUVB is feasible and yields results comparable to those obtained directly from the neonate.