Pérez-Cabeza María Isabel, Borrás Fátima, Moreno-Medinilla Esther Eugenia, Bardán-Rebollar Daniel, Ferrer-López Isaac, Rodríguez-García Enrique, Jiménez-Machado Rocío, Castro-Vega Isabel, Benito Carmen, Escudero Julia, Yahyaoui Raquel
Department of Pediatric Ophthalmology, Málaga Regional University Hospital, Málaga, Spain.
Department of Pediatric Neurology, Málaga Regional University Hospital, Málaga, Spain.
J AAPOS. 2019 Apr;23(2):102-104. doi: 10.1016/j.jaapos.2018.08.008. Epub 2018 Nov 13.
Sialidosis is a rare lysosomal storage disease caused by an α-N-acetyl neuraminidase-1 deficiency due to mutations of the NEU1 gene (6p21). Disease severity varies among patients and is linked to the level of residual neuraminidase activity in vivo. At least 40 disease-causing mutations in the NEU1 gene have been reported. Sialidosis occurs in two main clinical variants: type I, the milder form of the disease, and type II, which is subdivided into congenital, infantile, and juvenile forms. We report the clinical, biochemical, and molecular characterization of a patient with infantile sialidosis type II. The abnormal urinary oligosaccharide profile is described for the first time. The genetic characterization of the patient showed two previously unreported missense mutations in the NEU1 gene: p.R78C (c.232C>T) and p.R290Q (c.869G>A).
唾液酸沉积症是一种罕见的溶酶体贮积病，由位于6p21的NEU1基因突变导致α-N-乙酰神经氨酸酶-1缺乏引起。患者的疾病严重程度各不相同，且与体内残余神经氨酸酶活性水平有关。已报道NEU1基因中至少有40种致病突变。唾液酸沉积症有两种主要临床变型：I型，病情较轻的形式；II型，又细分为先天性、婴儿型和青少年型。我们报告了一例II型婴儿唾液酸沉积症患者的临床、生化和分子特征。首次描述了异常的尿寡糖谱。该患者的基因特征显示NEU1基因中有两个先前未报道的错义突变：p.R78C（c.232C>T）和p.R290Q（c.869G>A）。
