Matsumoto Naoko, Gondo Kenjiro, Kukita Johji, Higaki Katsumi, Paragison Rubigilda C, Nanba Eiji
Kitakyushu Municipal Hospital, 2-1-1 Bashaku, Kokurakita-ku, Kitakyushu City, Fukuoka 802-0077, Japan.
Brain Dev. 2008 Oct;30(9):595-8. doi: 10.1016/j.braindev.2008.01.012. Epub 2008 Apr 18.
Galactosialidosis is a rare lysosomal storage disease caused by a combined deficiency of lysosomal beta-galactosidase and neuraminidase, due to a primary defect in protective protein/cathepsin A. Three subtypes are recognized: the early infantile type, the late infantile type, and the juvenile/adult type. Here, we report a case of early infantile galactosialidosis in a female who was born at 31 weeks of gestation, after detection of fetal ascites at 21 weeks of gestation and development of fetal hydrops. After birth she received intensive treatment that led to improvement of edema and pleural effusion, but ascites slowly developed. She died of renal failure on day 207. An autopsy showed that all organs contained vacuolated cells, compatible with a storage disease. The patient had decreased activity of beta-galactosidase and undetectable neuraminidase activity in fibroblasts. A single A-G base transition at position 146 of exon 1 (Q49R) in protective protein/cathepsin A gene was found. The mutation has been reported previously in a Japanese patient with different phenotypes. However homozygous Q49R mutation detected in our case was severe prognosis.
半乳糖唾液酸贮积症是一种罕见的溶酶体贮积病，由溶酶体β-半乳糖苷酶和神经氨酸酶联合缺乏引起，原因是保护蛋白/组织蛋白酶A存在原发性缺陷。已确认有三种亚型：早婴型、晚婴型和青少年/成人型。在此，我们报告一例早婴型半乳糖唾液酸贮积症病例，患儿为女性，孕31周出生，在孕21周时检测到胎儿腹水，随后出现胎儿水肿。出生后她接受了强化治疗，水肿和胸腔积液有所改善，但腹水逐渐形成。她在第207天死于肾衰竭。尸检显示所有器官均含有空泡化细胞，符合贮积病表现。该患者成纤维细胞中β-半乳糖苷酶活性降低，神经氨酸酶活性检测不到。在保护蛋白/组织蛋白酶A基因外显子1第146位（Q49R）发现一个A-G碱基转换。该突变先前在一名具有不同表型的日本患者中已有报道。然而，我们病例中检测到的纯合Q49R突变预后不良。
