PDF(Pubmed)
Abstract：
Galactosialidosis (GS) is a rare lysosomal storage disorder. We reported here, the case of a 29-day-old boy who had increased body swelling, difficulty breathing, and petechiae on the trunk since birth. The antenatal history was unremarkable. Clinical laboratory findings included coarse facies, hepatosplenomegaly, gross ascites, thrombocytopenia, nephrotic range proteinuria, and bilateral hydronephrosis. The diagnostic challenge was resolved after genetic testing, which revealed GS with a novel homozygous c.1158dupA mutation.
摘要：
半乳糖唾液中毒（GS）是一种罕见的溶酶体贮积症。我们在这里报道，一个29天大的男孩身体肿胀加剧，呼吸困难,出生后躯干上还有瘀斑.产前病史不明显。临床实验室检查结果包括粗糙相，肝脾肿大,恶心腹水，血小板减少症,肾病范围蛋白尿，和双侧肾积水。诊断挑战在基因检测后得到解决，揭示了GS具有新的纯合c.1508dupA突变。
