160 Case report: menkes disease, an illustration of disease related progressive skull fracture in a preterm neonate

Abstract

Cerebrospinal fluid Culture -no growth, WCC 23, RBC <3, negative meningococcal/pneumococcal PCR, negative virology Urine culture No growth Urine amino acids Imidopeptiduria Rapid trio exome sequencing Homozygous pathogenic PEPD variant {c.978G>A, p.