Olmez Akgün, Nilssen Oivind, Coşkun Turgay, Klenow Helle
Section of Pediatric Nutrition and Metabolism, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Turk J Pediatr. 2003 Jan-Mar;45(1):46-50.
We present a case of alpha-mannosidosis with its mutational analysis. She was referred to our hospital with the provisional diagnosis of mucolipidosis. She was the first child of second-degree relative parents. She had a coarse face with flat and wide nasal bridge, hepatosplenomegaly, umbilical hernia, lumbar gibbus, motor and mental retardation and deafness. On peripheral blood smear, lymphocytes revealed vacuoles and neutrophils contained some granules resembling Reilly bodies seen in mucopolysaccharidosis (MPS). Based on these findings, the diagnosis of alpha-mannosidosis was suspected. Her urine oligosaccharide chromatography showed an abnormal pattern with a heavy trisaccharide band. Enzyme studies on white cells confirmed a deficiency of alpha-mannosidase activity, which was 2.6 micromol/g/hr. Her DNA analysis showed a S453Y mutation.
我们报告一例α-甘露糖苷贮积症及其突变分析。她因黏脂贮积症的初步诊断被转诊至我院。她是二级亲属父母的第一个孩子。她面容粗糙，鼻梁扁平宽阔，肝脾肿大，脐疝，腰椎后凸，有运动和智力发育迟缓以及耳聋症状。在外周血涂片上，淋巴细胞可见空泡，中性粒细胞含有一些类似黏多糖贮积症（MPS）中所见Reilly小体的颗粒。基于这些发现，怀疑为α-甘露糖苷贮积症。她的尿寡糖色谱显示出异常模式，三糖带较重。白细胞酶学研究证实α-甘露糖苷酶活性缺乏，为2.6微摩尔/克/小时。她的DNA分析显示存在S453Y突变。
