Published online Oct 16, 2022. doi: 10.12998/wjcc.v10.i29.10681
Peer-review started: April 27, 2022
First decision: June 27, 2022
Revised: July 9, 2022
Accepted: September 8, 2022
Article in press: September 8, 2022
Published online: October 16, 2022
Cerebrotendinous xanthomatosis is an autosomal recessive disorder of lipid meta
Here we report the clinical, biochemical, and molecular characterization of a 33-year-old female patient with cerebrotendinous xanthomatosis. The patient deve
Cerebrotendinous xanthomatosis requires a multidisciplinary diagnosis that must be made early to avoid progressive neurological degeneration. c.1263+1G>T is a known mutation, but c.255+1G>T is a rare mutation site.
Core Tip: This study identified a case of delayed diagnosis of cerebrotendinous xanthomatosis (CTX) that resulted in severe neurological impairment. CTX is caused by CYP27A1 gene mutations, and one rare mutation and one known mutation were identified in our patient. CTX diagnosis must be made early to avoid neurologic injury and worsening. This finding also provides new data for further revealing the pathogenesis of CTX, enriching the pathogenic mutation spectrum of the CYP27A1 gene and molecular diagnosis of the disease, which is of great significance for fertility guidance and prenatal diagnosis of this patient in the future.