Stuut Thomas, Popescu Oana, Oviedo Angelica
Family Medicine, Central Michigan University College of Medicine, Mount Pleasant, USA.
Pathology and Laboratory Medicine, Vernon Jubilee Hospital, Vernon, CAN.
Cureus. 2021 Oct 29;13(10):e19126. doi: 10.7759/cureus.19126. eCollection 2021 Oct.
Pediatric neurodegeneration is extremely rare and devastating to the families involved. We describe a rare case of pediatric neurodegeneration in a child with N-glycanase 1 (NGLY1) deficiency. This child had an autosomal recessive mutation in , the gene coding for the enzyme NGLY1 that was found with exome sequencing. NGLY1 catalyzes protein deglycosylation by cleaving the -aspartyl glycosylamine bond of N-linked glycoproteins and is thereby a component of the endoplasmic reticulum-associated degradation pathway. This child passed away at five years of age after a prolonged clinical course with myoclonic epilepsy, choreoathetosis-like movements, lacrimal duct problems, and severe developmental delay. This autopsy case report shows images of the neuronal inclusions and liver steatosis found in this patient with NGLY1 deficiency and offers a detailed clinical history.
小儿神经退行性变极为罕见，对相关家庭来说是毁灭性的。我们描述了一例患有N-聚糖酶1（NGLY1）缺乏症的儿童发生小儿神经退行性变的罕见病例。该儿童在编码NGLY1酶的基因中存在常染色体隐性突变，这是通过外显子组测序发现的。NGLY1通过切割N-连接糖蛋白的天冬氨酰糖胺键来催化蛋白质去糖基化，因此是内质网相关降解途径的一个组成部分。该儿童在经历了包括肌阵挛性癫痫、舞蹈手足徐动样运动、泪管问题和严重发育迟缓的漫长临床病程后，于5岁时去世。这份尸检病例报告展示了该NGLY1缺乏症患者的神经元内含物和肝脂肪变性图像，并提供了详细的临床病史。
