Adrenoleukodystrophy: a clinical variant presenting as olivopontocerebellar atrophy

✍ Scribed by T. Ohno; H. Tsuchida; N. Fukuhara; T. Yuasa; H. Harayama; S. Tsuji; T. Miyatake

• Book ID: 104718127
• Publisher: Springer
• Year: 1984
• Tongue: English
• Weight: 611 KB
• Volume: 231
• Category: Article
• ISSN: 0340-5354
• DOI: 10.1007/bf00313932

✦ Synopsis

A case of adrenoleukodystrophy showing neurological features of olivopontocerebellar atrophy is described. A CT scan demonstrated marked atrophy in both cerebellum and pons. ACTH stimulation produced no rise in the plasma cortisol level but a significant rise in the plasma aldosterone level. The ratios of C26:0 to C22:0 in fatty acids of sphingomyelin from erythrocyte membrane and plasma were increased.