Wakai S, Asanuma H, Tachi N, Ishikawa Y, Minami R
Department of Pediatrics, Sapporo Medical University, School of Medicine, Japan.
Pediatr Neurol. 1993 Jul-Aug;9(4):309-11. doi: 10.1016/0887-8994(93)90070-s.
Dystrophic axons were found in the biopsied muscle tissue of a 17-month-old hypotonic infant after confirmation of a diagnosis of infantile neuroaxonal dystrophy (INAD) by subsequent peripheral nerve biopsy. He manifested gradual deterioration and had brief tonic seizures. The sural nerve biopsy, performed at age 42 months, confirmed INAD. Intensive ultrastructural investigation of the preceding muscle biopsy specimens demonstrated infrequent but definite findings of axonal degeneration in the musculature. Ultrastructural investigation of muscle biopsy should include a careful search for neural tissue because in INAD axonal changes occur primarily in the presynaptic region.
在一名17个月大的低张力婴儿的活检肌肉组织中发现了营养不良性轴突，随后通过周围神经活检确诊为婴儿神经轴索性营养不良（INAD）。他表现出逐渐恶化，并伴有短暂的强直性发作。42个月大时进行的腓肠神经活检证实为INAD。对之前肌肉活检标本的深入超微结构研究显示，肌肉组织中轴突变性的发现虽不常见但很明确。肌肉活检的超微结构研究应包括仔细寻找神经组织，因为在INAD中轴突变化主要发生在突触前区域。
