Neonatal Intensive Care 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.
Post Graduate School of Paediatrics, 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.
BMC Med Genet. 2020 Nov 19;21(1):229. doi: 10.1186/s12881-020-01175-y.
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.
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.
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.
过氧化物酶体生物发生障碍（PBD）是一组由过氧化物体功能障碍引起的代谢疾病。描述了不同形式的 PBD；最严重的是 Zellweger 综合征（ZS）。我们报告了 Zellweger 综合征的一种不常见表现，表现为一名新生儿出现严重和暴发性败血症，导致新生儿期死亡。
一名足月的白种男性新生儿出生时表现为张力减退和喂养不良，伴有颅面特征和骨骼异常。血液检查显示进行性白细胞减少症；超声显示脑和肾脏异常。他在第四天因不可逆转的革兰氏阴性败血症死亡。血液和尿液样本的死后检查显示生化改变提示 ZS，通过基因检测得到证实。
ZS 是 PBD 的早期和严重形式。过氧化物体已知参与脂质代谢，但最近的研究表明它们在调节免疫反应和炎症方面具有基本作用。如果临床上怀疑 ZS，重要的是要关注感染的预防和管理，因为感染可能迅速进展为死亡。
