Identification of two Iranian siblings with cerebrotendinous xanthomatosis: a case report

Abstract Background Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder that leads to multisystem involvement. It caused by mutations in the CYP27A1 gene which encodes mitochondrial enzyme sterol 27-hydroxylase. Case presentation Herein we describe two affected CTX siblings with symptoms including seizures, severe diarrhea (steatorrhea), vomiting, and developmental motor delay, was initially misdiagnosed as Short-Chain acyl-CoA dehydrogenase (SCAD) deficiency. However, identify possible genetic cause(s) of disease, whole exome sequencing (WES) performed. confirmed these patients carried nonsense variant (c.808C > T; p.Arg270Ter) gene. The classified pathogenic. Conclusion We report cases novel mutation summarize clinical molecular pathogenesis this disease. Genetic analysis should be used conclusive method for diagnosis because involvement lack specific symptoms. expands phenotypic basis CTX.