Joshua G E, Chandy S, Radhakrishnan A N, Mammen D, Mathai K V
J Inherit Metab Dis. 1978;1(2):67-70. doi: 10.1007/BF01801847.
Three untreated phenylketonuric Indian children aged respectively 3 1/2 years, 1 1/2 years and 1 year showed rapid neurological deterioration. Plasma, cerebrospinal fluid and urine phenylalanine concentrations were significantly raised and the phenylalanine-tyrosine ratio was high. Analysis of a biopsy of the right frontal lobe of the brain in one case showed the myeline lipids--cerebroside and sulphatide--to be decreased. The total cerebroside in white matter was low. Light microscopy showed marked pallor of the white matter of the brain and extensive spongy degeneration. Ultrastructurally these spongy vesicles are located between the lamellae of the myelin sheath.
三名未经治疗的苯丙酮尿症印度儿童，年龄分别为3岁半、1岁半和1岁，出现了快速的神经功能恶化。血浆、脑脊液和尿液中的苯丙氨酸浓度显著升高，苯丙氨酸与酪氨酸的比例很高。对其中一例患者右侧额叶脑活检分析显示，髓磷脂脂质——脑苷脂和硫脂——减少。白质中的总脑苷脂含量较低。光镜检查显示脑白质明显苍白，并伴有广泛的海绵状变性。超微结构观察发现这些海绵状小泡位于髓鞘板层之间。
