Goebel H H, Kohlschütter A, Schulte F J
Neuropediatrics. 1980 Nov;11(4):388-92. doi: 10.1055/s-2008-1071406.
A 21-month-old boy with a family history of parental consanguinity and two siblings having died of a progressive neurological disorder was investigated for a neurometabolic disease because of recent loss of gait and lack of intellectual progress. While a lysosomal disease could not be verified, his clinical findings were compatible with infantile neuroaxonal dystrophy, the diagnosis of which was electron microscopically established by demonstrating typical enlarged axonal terminals in rectal biopsy tissue.
一名21个月大的男孩，其父母有近亲结婚家族史，且有两个兄弟姐妹死于进行性神经疾病。由于近期出现步态丧失和智力发育停滞，该男孩因神经代谢疾病接受了检查。虽然溶酶体疾病未能得到证实，但其临床症状与婴儿型神经轴索性营养不良相符，通过直肠活检组织电镜检查发现典型的轴突终末肿大，从而在电镜下确诊该病。
