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Related Experiment Video

Updated: Jan 3, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

Cerebrotendinous xanthomatosis - A case report.

Arshed Hussain Parry¹, Abdul Haseeb Wani¹, Muiez Bashir¹

¹Department of Radiodiagnosis, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India.

The Indian Journal of Radiology & Imaging

|November 20, 2019

Summary

Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder causing cholestanol and cholesterol buildup. This case highlights key clinical and imaging findings in a patient with CTX, confirming diagnosis through biopsy and lab tests.

Keywords:

Cerebrotendinous xanthomatosis cholestanol dentate nucleus

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Area of Science:

Biochemistry
Genetics
Neurology

Background:

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder.
It stems from a defective enzyme in bile acid synthesis, causing cholestanol and cholesterol deposition.
This leads to neurological, ocular, vascular, and musculoskeletal symptoms.

Observation:

A 32-year-old female presented with intellectual disability, unsteady gait, and bilateral ankle swelling.
Clinical examination revealed characteristic physical signs of CTX.
Imaging studies were crucial for evaluating the extent of the disease.

Findings:

Imaging revealed a spectrum of characteristic CTX findings in the brain and tendons.
Biopsy and laboratory tests confirmed the diagnosis of Cerebrotendinous xanthomatosis.
The findings align with the known pathophysiology of CTX.

Implications:

Early diagnosis of CTX is crucial for timely intervention and management.
Understanding the clinical and imaging spectrum aids in identifying affected individuals.
Further research into bile acid synthesis defects can offer therapeutic targets for CTX.