Kabra M, Gulati S, Kaur M, Sharma J, Singh A, Chopra V, Menon P S, Kalra V
Department of Pediatrics, All India Institute of Medical Sciences, New Delhi.
Indian J Pediatr. 2000 Sep;67(9):683-7. doi: 10.1007/BF02762185.
I-cell disease (Mucolipidosis II) is one of the lysosomal storage diseases which presents in the neonatal period, and within six months will phenotypically resemble the severe forms of the group of disorders called the "mucopolysaccharidoses" but without mucopolysacchariduria. In Mucolipidosis II, fibrocytes exhibit "abnormal lysosomes". Activities of several lysosomal enzymes are low in fibroblast cultures but high in mucolipidosis II serum. We present a patient with I-cell disease diagnosed on the basis of clinical, radiological and biochemical features. The mother of this child was pregnant and the fetus was also found to be affected.
I型细胞病（黏脂贮积症II型）是一种溶酶体贮积病，于新生儿期发病，在6个月内其表型类似于一组称为“黏多糖贮积症”的严重疾病，但无黏多糖尿症。在黏脂贮积症II型中，成纤维细胞表现出“异常溶酶体”。几种溶酶体酶的活性在成纤维细胞培养物中较低，但在黏脂贮积症II型血清中较高。我们报告了一名根据临床、放射学和生化特征诊断为I型细胞病的患者。该患儿的母亲怀孕，且胎儿也被发现患病。
