Overwhelming sepsis in a neonate affected by Zellweger syndrome due to a compound heterozygosis in PEX 6 gene: a case report

• Main Authors: Laura Lucaccioni (Author), Beatrice Righi (Author), Greta Miriam Cingolani (Author), Licia Lugli (Author), Elisa Della Casa (Author), Francesco Torcetta (Author), Lorenzo Iughetti (Author), Alberto Berardi (Author)
• Format: Book
• Published: BMC, 2020-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Peroxisome biogenesis disorders (PBDs) are a group of metabolic diseases caused by dysfunction of peroxisomes. Different forms of PBDs are described; the most severe one is the Zellweger syndrome (ZS). We report on an unusual presentation of Zellweger syndrome manifesting in a ne...