Lipiński Patryk, Cielecka-Kuszyk Joanna, Socha Piotr, Tylki-Szymańska Anna
Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.
Department of Pathology, The Children's Memorial Health Institute, Warsaw, Poland.
Pol J Pathol. 2020;71(1):66-68. doi: 10.5114/pjp.2020.92994.
N-glycanase 1 deficiency is a congenital disorder of deglycosylation, which has been diagnosed in 27 patients, including 2 of them from Poland. The most characteristic symptoms include global developmental disability, hyperkinetic movement disorder, hypo-/alacrimia, and elevated serum transaminases. We reported on a patient in whom the liver biopsy done at the age of 3 years revealed the presence of steatosis, fibrosis, and an amorphous periodic acid-Schiff staining positive diastases-digested material in the cytoplasm.
N-聚糖酶1缺乏症是一种先天性去糖基化障碍疾病，已在27例患者中得到诊断，其中2例来自波兰。最典型的症状包括全面发育迟缓、运动亢进性运动障碍、泪液分泌减少/无泪以及血清转氨酶升高。我们报告了一名患者，其在3岁时进行的肝脏活检显示存在脂肪变性、纤维化，且细胞质中有非晶态过碘酸希夫染色阳性的淀粉酶消化物质。
