Overwhelming sepsis in a neonate affected by Zellweger syndrome due to a compound heterozygosis in PEX 6 gene: a case re
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CASE REPORT
Open Access
Overwhelming sepsis in a neonate affected by Zellweger syndrome due to a compound heterozygosis in PEX 6 gene: a case report Laura Lucaccioni1, Beatrice Righi2, Greta Miriam Cingolani2, Licia Lugli1, Elisa Della Casa1, Francesco Torcetta1, Lorenzo Iughetti3* and Alberto Berardi1
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 newborn with severe and fulminant sepsis, causing death during the neonatal period. Case presentation: A term male Caucasian neonate presented at birth with hypotonia and poor feeding associated with dysmorphic craniofacial features and skeletal abnormalities. Blood tests showed progressive leukopenia; ultrasounds revealed cerebral and renal abnormalities. He died on the fourth day of life because of an irreversible Gram-negative sepsis. Post-mortem tests on blood and urine samples showed biochemical alterations suggestive of ZS confirmed by genetic test. Conclusions: ZS is an early and severe forms of PBDs. Peroxisomes are known to be involved in lipid metabolism, but recent studies suggest their fundamental role in modulating immune response and inflammation. In case of clinical suspicion of ZS it is important to focus the attention on the prevention and management of infections that can rapidly progress to death. Keywords: Peroxisome biogenesis disorders, Zellweger syndrome, Very long chain fatty acids, Innate immunity
Background Peroxisome biogenesis disorders (PBDs – MIM#601539) are rare autosomal recessive disorders, caused by mutations in any of the 14 different PEX genes which code for peroxins, proteins involved in peroxisome assembly, including proteins involved in the import of peroxisomal matrix and membrane proteins [1]. * Correspondence: [email protected] 3 Pediatric Unit, Department of Medical and Surgical Sciences of the Mothers, Children and Adults, University of Modena and Reggio Emilia, via del Pozzo 71, 41124 Modena, Italy Full list of author information is available at the end of the article
PBDs are divided into two groups: Zellweger spectrum disorder (PBD-ZSD) and rhizomelic chondrodysplasia punctata type 1. PBD-ZSD includes three different syndromes: Zellweger syndrome (ZS - MIM# 214100), neonatal adrenoleukodystrophy (NALD - MIM# 202370) and infantile Refsum disease (IRD - MIM# 266510) ranging from severe, intermediate and mild phenotype, respectively [2–4]. PBDs prevalence is estimated to be 1 in 50.000 births in North America with huge differences worldwide. A lower incidence of ZS was reported in Japan (1 in 500.000 newborns), whereas the highest incidence was
© The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as lon
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