DOAJ Open Access 2023

Cerebrotendinous Xanthomatosis: A Clinical Series Illustrating the Radiological Findings

Shubham Saini Neha Bagri

Abstrak

Cerebrotendinous xanthomatosis is a rare autosomal recessive disorder that occurs due to defective bile acid biosynthesis, causing unusual cholesterol and cholestanol deposition in multiple soft tissues. It is manifested by various neurological and non-neurological symptoms. The characteristic imaging features and clinical symptoms can help to make an early diagnosis and induce timely treatment to prevent neurological sequelae. The authors present two adults with differing clinical symptoms, whose imaging provided pivotal cues in diagnosing cerebrotendinous xanthomatosis.

Topik & Kata Kunci

Neurology. Diseases of the nervous system

Penulis (2)

Shubham Saini

Neha Bagri

Format Sitasi

APA MLA BibTeX

Saini, S., Bagri, N. (2023). Cerebrotendinous Xanthomatosis: A Clinical Series Illustrating the Radiological Findings. https://doi.org/10.33590/emjneurol/10302157

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Informasi Jurnal

Tahun Terbit: 2023
Sumber Database: DOAJ
DOI: 10.33590/emjneurol/10302157
Akses: Open Access ✓