The Natural History of Mucolipidosis Type IV

IV型粘脂沉积症(MLIV)是一种常染色体隐性遗传病，其典型的特征是严重的 精神运动迟缓在生命第一年结束时明显，并在 第一个十年是角膜混浊和视网膜变性的结果。我们将评估 5年内每年多达10名MLIV患者的疾病自然病史。我们假设，在 观察期内患者的神经功能和结构会有轻微的下降 MLIV。这项研究的主要观察指标将是患者的神经认知特征。 MLIV与MLIV患者的脑结构特征，特别是脑体积和 扩散张量成像。这项研究中的评估工具将包括MRI、年龄合适的测量 神经认知功能、脑电、吞咽研究、物理治疗和营养。

Mucolipidosis type IV (MLIV) is an autosomal recessive disorder typically characterized by severe psychomotor delay evident by the end of the first year of life and slowly progressive visual impairment during the first decade as a result of a combination of corneal clouding and retinal degeneration. We will evaluate the natural history of the disease yearly in up to 10 MLIV patients over 5 years. We hypothesize that over the period of observation there will be a small decline in neurological function and structure in patients with MLIV. The main outcome measures in this study will be the neurocognitive characteristics of patients with MLIV and the structural brain characteristics of patients with MLIV and in particular brain volume and diffusion tensor imaging. The evaluative tools in this study will include MRI, age appropriate measures of neurocognitive function, EEG, swallow studies, physical therapy and nutrition.