Pérez R, Cuesta J M, Haro de los Monteros N, Hernando Mayor y Montes J C
An Esp Pediatr. 1984 May;20(8):783-8.
Authors present the case of a child, daughter of non related parents with neurologic progressive affectation, retina and visceral implication with certain pseudogargolic clinical aspect without near familiar antecedents suggestive of this disease. Biochemistry and histologic studies revealed a B-galactosidase enzyme deficiency and lipidic intracellular increase in different viscera. Biochemistry, hystological and clinical aspects exposed are fundamentally differential of another causes of pseudo-Hurler syndrome.
作者介绍了一个病例，患儿为非近亲父母的女儿，患有进行性神经病变、视网膜及内脏受累，具有某种假性Hurler样临床症状，家族中无类似疾病的先例。生化和组织学研究显示β-半乳糖苷酶缺乏以及不同内脏中细胞内脂质增加。所呈现的生化、组织学及临床特征与假性Hurler综合征的其他病因存在根本差异。
