Abstract
BackgroundCerebrotendinous xanthomatosis (CTX) is a rare lipid-storage disease. We investigated the clinic manifestation, histopathology and sterol 27-hydroxylase gene (CYP27A1) in a Chinese family with Cerebrotendinous Xanthomatosis (CTX).Case PresentationA 36-year-old female with typical CTX clinical manifestation had Spindle-shaped lipid crystal clefts in xanthomas and "onion-like demyelination" in sural nerve. The patient was compound heterozygote carrying two deletions in exon 1 (c.73delG) and exon 2 (c.369_375delGTACCCA). The family memebers were carriers.ConclusionsA Chinese family with Cerebrotendinous Xanthomatosis had typical clinical manifestation. CYP27A1 mutations were found in the proband and all other family members.
Highlights
Cerebrotendinous xanthomatosis (CTX) is a rare lipid-storage disease
CYP27A1 mutations were found in the proband and all other family members
Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive sterol storage disease caused by a mutated sterol 27-hydroxylase gene (CYP27A1) [1]
Summary
Cerebrotendinous xanthomatosis (CTX) is a rare lipid-storage disease. We investigated the clinic manifestation, histopathology and sterol 27-hydroxylase gene (CYP27A1) in a Chinese family with Cerebrotendinous Xanthomatosis (CTX).Case Presentation: A 36-year-old female with typical CTX clinical manifestation had Spindle-shaped lipid crystal clefts in xanthomas and “onion-like demyelination” in sural nerve. Background Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive sterol storage disease caused by a mutated sterol 27-hydroxylase gene (CYP27A1) [1]. The CYP27A1 gene is located on chromosome 2q33-qter and consists of 9 exons. We describe clinical findings, neuro-imaging, pathology and two novel mutations of the CYP27A1 gene in a Chinese family.
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