Onenli-Mungan Neslihan, Ozer Güler, Altunbaşak Sakir, Besley Guy, Yüksel Bilgin, Topaloğlu Ali Kemal, Soyupak Süreyya
Department of Pediatric Endocrinology and Metabolism, Cukurova University, Faculty of Medicine, Adana, Turkey.
Turk J Pediatr. 2004 Apr-Jun;46(2):170-3.
Fucosidosis is a rare, autosomal recessive lysosomal storage disorder caused by a severe deficiency of alpha-L-fucosidase. Here we present a 27-month-old male who was referred to us for evaluation of developmental delay, which was first detected at age six months. His past medical history was also remarkable for recurrent pulmonary infections and myoclonic seiures. His family history revealed that he was the first living child from a consanguineous marriage. He had a younger sister who died at five months of age from pneumonia who had facial resemblance to the proband, developmental delay and a congenital heart defect. Physical examination revealed length: 81 cm (25-50p), weight: 10.2 kg (25-50p), and head circumference: 49 cm (50-75p). He had a coarse face, hepatomegaly and generalized spasticity. His initial laboratory examination revealed negative urine screening column chromatography for mucopolysaccharidosis. His X-ray findings were consistent with mild form of dysostosis multiplex. Based on clinical and laboratory features, fucosidosis was suspected. Fucosidase enzyme activity was zero. In addition to fucosidosis, thyroid function tests indicated primary hypothyroidism. This is, to the best of our knowledge, the fourth case of fucosidosis diagnosed in Turkey.
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α-L-岩藻糖苷酶严重缺乏引起。本文报告一名27个月大的男性患儿，因发育迟缓前来我院评估，发育迟缓最早在6个月大时被发现。他既往有反复肺部感染和肌阵挛性癫痫病史。家族史显示他是近亲结婚的第一个存活子女。他有一个妹妹，5个月大时死于肺炎，妹妹面部与先证者相似，有发育迟缓及先天性心脏缺陷。体格检查显示身高：81厘米（第25-50百分位），体重：10.2千克（第25-50百分位），头围：49厘米（第50-75百分位）。他面容粗糙、肝肿大且全身痉挛。其初始实验室检查显示尿黏多糖病筛查柱色谱法结果为阴性。他的X线表现符合轻度多发性骨发育异常。基于临床和实验室特征，怀疑为岩藻糖苷贮积症。岩藻糖苷酶活性为零。除岩藻糖苷贮积症外，甲状腺功能检查显示原发性甲状腺功能减退。据我们所知，这是土耳其诊断的第四例岩藻糖苷贮积症病例。
