Kılıç Esra, Kılıç Mustafa, Ütine G Eda, Sivri Serap, Coskun Turgay, Alanay Yasemin
Division of Medical Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Turk J Pediatr. 2014 Jul-Aug;56(4):430-3.
Fucosidosis is a rare autosomal recessive lysosomal storage disorder in which fucose-containing glycolipids, glycoproteins and oligosaccharides accumulate in tissues, as a result of a deficiency of α-L-fucosidase. In this report we describe clinical, dysmorphological and radiological findings of a boy with this disorder. Developmental delay, skeletal deformities and mild coarsening of the face began at two years of age. Clinical signs typical for fucosidosis evolved over time. Psychomotor deterioration progressed slowly. At age 12, he could not walk without help; he was admitted to the hospital with intellectual disability, short stature and coarse facial features. A skeletal survey showed dysostosis multiplex. Cranial MRI demonstrated high intensities on the periventricular white matter and low intensities on the basal ganglia on T2-weighted images. Despite the absence of angiokeratoma on the skin, type II fucosidosis with clinical, dysmorphological and radiological signs was suspected. The diagnosis was established on the basis of severely decreased activity of α-L-fucosidase in the leukocytes. The natural history and specific dysmorphic and radiological findings should, even in the absence of angiokeratoma, assist in the differential diagnosis of this rare condition when lysosomal storage disorders are suspected, particularly in populations in which consanguineous marriages are common.
岩藻糖苷贮积症是一种罕见的常染色体隐性溶酶体贮积病，由于α-L-岩藻糖苷酶缺乏，含岩藻糖的糖脂、糖蛋白和寡糖在组织中蓄积。在本报告中，我们描述了一名患有该疾病男孩的临床、畸形学和放射学表现。发育迟缓、骨骼畸形和面部轻度粗糙在两岁时开始出现。岩藻糖苷贮积症的典型临床体征随时间演变。精神运动发育迟缓进展缓慢。12岁时，他在无人帮助下无法行走；他因智力残疾、身材矮小和面部特征粗糙而入院。骨骼检查显示多发性骨发育异常。头颅磁共振成像（MRI）在T2加权图像上显示脑室周围白质高强度信号和基底节低强度信号。尽管皮肤上没有血管角质瘤，但仍怀疑为伴有临床、畸形学和放射学表现的II型岩藻糖苷贮积症。诊断基于白细胞中α-L-岩藻糖苷酶活性严重降低而确立。即使没有血管角质瘤，其自然病史以及特定的畸形学和放射学表现，在怀疑溶酶体贮积病时，尤其是在近亲结婚常见的人群中，应有助于对这种罕见疾病进行鉴别诊断。
