Bernal-Bonilla Ingrid Tatyana, Arias-Florez Juan Sebastian, Ramirez Sandra Ximena, Bayona-Gomez Bibiana Alejandra, Castro-Castillo Lina, Correa-Martinez Valeria, Sanchez-Gomez Yasmín, Santiago-Tovar Natalia, Gaviria-Sabogal Cristian Camilo, Contreras Bravo Nora Constanza, Cabrera Rodrigo, Morel Adrien, Fonseca-Mendoza Dora Janeth, Restrepo Carlos M
Department of Morphology, Institute of Human Genetics, Universidad Nacional de Colombia. Grupo Investigación Genética Clínica UNAL, Bogotá D.C, Colombia.
Department of Internal Medicine, Hospital Universitario Mayor-Mederi, Universidad Del Rosario, Bogotá D.C, Colombia.
Appl Clin Genet. 2025 Sep 4;18:165-173. doi: 10.2147/TACG.S518636. eCollection 2025.
Zellweger syndrome (ZS) is a heterogeneous group of clinical conditions that commonly manifest with neurodevelopmental delay, multiple neurological abnormalities, visual and auditory impairments, and adrenocortical dysfunction. ZS is an autosomal recessive peroxisomal disorder resulting from mutations in one of over 13 identified genes. We report the case of a male child with episodic seizures starting at 18 days of life, followed by neurodevelopmental delay and neuroimaging findings of asymmetric polymicrogyria and cortical abnormalities. His healthy parents were consanguineous, and notably, a brother, who passed away at the age of 5 years-old, had epilepsy and adrenoleukodystrophy. Exome sequencing allowed the identification of a novel stop-loss homozygous variant in the gene in the index case. The phenotype associated to this gene, Zellweger syndrome, as well as the inheritance mechanism, is consistent with that observed in both the patient and his brother.
泽尔韦格综合征（ZS）是一组临床症状各异的疾病，通常表现为神经发育迟缓、多种神经异常、视觉和听觉障碍以及肾上腺皮质功能障碍。ZS是一种常染色体隐性过氧化物酶体疾病，由超过13个已确定基因中的一个发生突变引起。我们报告了一名男童的病例，该男童在出生18天时开始出现发作性癫痫，随后出现神经发育迟缓，神经影像学检查发现不对称性多小脑回和皮质异常。他健康的父母是近亲，值得注意的是，他有一个5岁时去世的哥哥，患有癫痫和肾上腺脑白质营养不良。外显子组测序使得在索引病例中鉴定出该基因中的一种新的截短纯合变体。与该基因相关的泽尔韦格综合征的表型以及遗传机制，与在患者及其哥哥身上观察到的情况一致。
