Maroteaux P, Poissonnier M, Tondeur M, Strecker G, Lemonnier M
Arch Fr Pediatr. 1978 Mar;35(3):280-91.
A case close to mucolipidosis I was observed and the description of this mucolipidosis has to be revised since there were initially some confusions with mannosidosis. Three types of abnormalities appear to be important in its distinction from the other types of oligosaccharidoses: presence on the fundus of a cherry-red spot; in the bone marrow, reticulo-histiocytic cells, whose central nucleus is surrounded by multiple optically empty droplets; very elective overload of the Kupffer cells. 3a neurological syndrome with cerebellar ataxia appears in the evolution. However, it is not present in our patient nor the electroencephalogram changes. This latter point does not authorize the definite identification of our case with Spranger and Wiedemann description of mucolipidosis I especially as the neuraminidase deficiencies are certainly heterogenous.
观察到一例接近I型黏脂贮积症的病例，由于最初与甘露糖苷贮积症存在一些混淆，因此对该型黏脂贮积症的描述必须加以修订。与其他类型的寡糖贮积症相区分时，有三种异常表现似乎很重要：眼底出现樱桃红斑；骨髓中出现网状组织细胞，其中心核被多个光学透明的液滴包围；库普弗细胞高度选择性超载。在病程进展中会出现伴有小脑共济失调的3a型神经综合征。然而，我们的患者未出现此症状，脑电图也未发生改变。后一点使得我们无法依据施普朗格和维德曼对I型黏脂贮积症的描述来明确诊断我们的病例，特别是因为神经氨酸酶缺乏肯定具有异质性。
