Abstract
A 12 year old boy who presented with rapid onset of blindness and underlying Addison's disease recovered vision during maintenance with hydrocortisone and fludrocortisone acetate. At age 21 he remains clinically and neurologically well with the exceptions of red central scotomata and bilateral flexor plantar responses. Fibroblast assay revealed increased levels of saturated very long chain fatty acids and plasma hexacosanoate (C26 fatty acid) represented 0.048% total fatty acid with a C26/C22 ratio of 0.065, characteristics of ALD hemizygosity.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.