Twenty five cases of infantile SD (13 female, 12 male) were included in this study. The age range of patients was 9-24 months with a mean of 15.8 months. The consanguinity rate of parents affected families was about 80%. The mean age of patients at disease onset was 6.4 months and the mean age at diagnosis was 14 months. Patients were diagnosed with a mean delay of 7.8 months. Eleven of patients died due to aspiration pneumonia and intractable seizure. The most common features at presentation (92%) were developmental delay or regression in speech and cognitive domains. Cherry red spots were detected in 17 patients (68%). Organomegaly was detected only in two patients. Enzyme studies showed marked reductions of both Hexosaminidase A and B in all patients. HEXB gene mutation studies performed in eight patients identified 6 different mutations, which five of them were novel.
Infantile SD should be considered for each child presented with neurologic symptoms such as developmental delay and regression and cherry red spots in ophthalmic examination. Organomegaly is not a frequent clinical finding in infantile SD. Additionally; there are a genetic heterogenisity among Iranian patients.
25例婴儿SD(13例女性,12名男性)纳入本研究。患者的年龄范围为9-24个月,平均15.8个月。受影响家庭的父母血缘率约为80%。患者发病时的平均年龄为6.4个月,诊断时的平均年龄为14个月。患者被诊断为平均延迟7.8个月。11名患者死于吸入性肺炎和顽固性癫痫。演讲中最常见的特征(92%)是言语和认知领域的发育延迟或退化。在17例患者中检测到樱桃红色斑点(68%)。仅在两名患者中检测到器官肿大。酶研究显示,所有患者的氨基己糖苷酶A和B均显着降低。在8名患者中进行的HEXB基因突变研究确定了6种不同的突变,其中五个是小说。
对于在眼科检查中出现神经系统症状如发育迟缓和退化以及樱桃红色斑点的儿童,应考虑婴儿SD。在婴儿SD中,器官肿大不是常见的临床发现。此外,伊朗患者之间存在遗传异质性。