Related Experiment Videos
Cerebrotendinous xanthomatosis in three siblings from a Chinese family
Insights
Cerebrotendinous xanthomatosis (CTX) is rare in Chinese populations. This report details a rare case in Hong Kong, highlighting the importance of early diagnosis for this treatable genetic disorder.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder characterized by impaired bile acid synthesis.
- It leads to the accumulation of cholestanol and cholesterol in various tissues, including tendons and the brain.
Observation:
- A 31-year-old Chinese male presented with characteristic CTX symptoms: tendon xanthomas, intellectual disability, cataracts, ataxia, and spasticity.
- Brain MRI revealed abnormalities, and plasma phytosterol levels were elevated.
Findings:
- Two siblings of the patient also exhibited tendon xanthomas and elevated plasma phytosterols.
- This case, along with one other from Taiwan, represents the only documented instances of CTX in the Chinese population.
Implications:
- Early diagnosis and treatment of CTX are crucial for preventing disease progression.
- Increased awareness of CTX in the Chinese population may facilitate earlier identification and intervention.
Abstract:
Cerebrotendinous xanthomatosis (CTX) is exceptionally rare in the Chinese population. We reported a 31-year-old Chinese male in Hong Kong, who has the characteristic features of cerebrotendinous xanthomatosis including the multiple xanthomas of tendons, mental retardation, bilateral cataracts, cerebellar ataxia and spasticity of the left arm, high concentrations of plasma phytosterols and abnormal MR of brain. On screening the family, two other siblings of 27 and 29 respectively, have tendon xanthomas and high plasma phytosterols. An extensive search of the international medical literature, including the Medline, has revealed only one other case report of cerebrotendinous xanthomatosis in Taiwan. CTX is a potentially treatable disease. It is hoped by alertness, early diagnosis and treatment can be made, and hence prevent further progression of the disease.