脑-肝-肾综合征(cerebro-hepato-renalsyndrome)又称Zellweger综合征(简称ZS),是最早发现的一种过氧物酶体病(Pe-roxisomal disorders,PD),呈常染色体隐性遗传,临床上极为少见。1964年Bowen等首先报道,1973年Goldfischer等证实患儿肝脏和肾小管上皮细胞缺乏过氧物酶体(pero-xisomes)。随后进行了大量研究,对本病的认识不断深入,同时也发现了某些ZS变异型如 Cerebro-hepato-renal syndrome (also called Zellweger syndrome) is one of the earliest discovered pe-roxisomal disorders (PD) with autosomal recessive Genetically and clinically rare. In 1964, Bowen et al. First reported that in 1973, Goldfischer et al confirmed the lack of pero-xisomes in the liver and tubular epithelial cells of children. Subsequent large-scale research, understanding of the disease continue to deepen, but also found that some ZS variants