Muthusamy Karthik, Thomas Maya Mary, George Renu Elizabeth, Alexander Mathew, Mani Sunithi, Benjamin Rohit N
Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India.
Department of Dermatology, Christian Medical College, Vellore, Tamil Nadu, India.
J Pediatr Neurosci. 2014 May;9(2):156-8. doi: 10.4103/1817-1745.139331.
Fucosidosis is a rare lysosomal storage disorder due to deficiency of fucosidase enzyme, with around 100 cases reported worldwide. Here, we describe the clinical and imaging features in two siblings with fucosidosis. An 8-year-old girl presented with global developmental delay, followed by regression of acquired milestones from 3 years of age with bipyramidal, extrapyramidal involvement, coarse facies, telangiectatic lesions, dysostosis multiplex, characteristic magnetic resonance imaging finding along with undetectable levels of the fucosidase activity, which confirmed the diagnosis. Younger sibling has mild developmental delay with autistic traits with no neuroregression until now. He also has undetectable level of fucosidase enzyme activity and is being considered for stem cell transplantation. New case reports would expand the clinical spectrum, early diagnosis and help formulating appropriate therapy. Early diagnosis is crucial and hence sibling screening can be done, and those in the presymptomatic stage can undergo hematopoietic stem cell transplantation, which is potentially curable.
岩藻糖苷贮积症是一种罕见的溶酶体贮积病，由于岩藻糖苷酶缺乏所致，全球报告的病例约有100例。在此，我们描述了两名患有岩藻糖苷贮积症的兄弟姐妹的临床和影像学特征。一名8岁女孩表现为全面发育迟缓，3岁起获得性发育里程碑出现倒退，伴有双锥体、锥体外系受累、面容粗糙、毛细血管扩张性病变、多发性骨发育异常、特征性磁共振成像表现，同时岩藻糖苷酶活性水平检测不到，从而确诊。弟弟有轻度发育迟缓及自闭症特征，至今无神经功能倒退。他的岩藻糖苷酶活性水平也检测不到，正在考虑进行干细胞移植。新的病例报告将拓宽临床谱，有助于早期诊断和制定合适的治疗方案。早期诊断至关重要，因此可以对兄弟姐妹进行筛查，处于症状前阶段的患者可接受造血干细胞移植，这有可能治愈。
