Sica R E, García Erro M I, Molina H A, Sanz O P, Chamoles N, Arbera C
División Neurología, Hospital Ramos Mejía, Buenos Aires.
Medicina (B Aires). 1992;52(1):55-9.
One patient with hexosaminidase A (Hx A) deficiency, which produces GM2 gangliosidosis, developed a complex progressive neurological syndrome, starting when he was 10 years old, which encompassed intellectual impairment, cerebellar involvement, features of upper and lower motoneurones compromise and sensory neuropathy without signs of motor fibre damage within the peripheral nerves. Sural nerve biopsy demonstrated loss of myelinated fibres, mainly of those of large and small diameters, clusters of small diameter fibres, fibres with abnormal thin myelin sheaths related to their axonal diameters, axonal degeneration, segmental and paranodal demyelination and remyelination. Electronmicroscopic examination showed small electrondense, non specific, bodies and concentric lamellar inclusions within the cytoplasm of the Schwann cells. These findings demonstrate that pure sensory peripheral neuropathy should be considered as part of the spectrum which may result from Hx A deficiency.
一名患有己糖胺酶A（Hx A）缺乏症（可导致GM2神经节苷脂贮积症）的患者，10岁时开始出现复杂的进行性神经综合征，包括智力障碍、小脑受累、上下运动神经元受损特征以及感觉神经病变，且周围神经无运动纤维损伤迹象。腓肠神经活检显示有髓纤维丢失，主要是大直径和小直径的纤维，小直径纤维簇，髓鞘厚度与其轴突直径不相称的异常细髓鞘纤维，轴突变性，节段性和结旁脱髓鞘及再髓鞘化。电子显微镜检查显示施万细胞胞质内有小的电子致密非特异性小体和同心层状包涵体。这些发现表明，纯感觉性周围神经病变应被视为Hx A缺乏症可能导致的一系列症状的一部分。
