Related Experiment Videos
[A case of cerebrotendinous xanthomatosis with convulsive seizures]
K Matsumuro1, K Takahashi, H Matsumoto
1Department of Neurology, Okatsu Hospital, Kagoshima.
Insights
Chenodiol treatment improved seizures and cholestanol levels in a patient with cerebrotendinous xanthomatosis (CTX). However, brain MRI abnormalities persisted, indicating irreversible neurological damage from this rare genetic disorder.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder.
- Characterized by impaired bile acid synthesis, leading to accumulation of cholestanol and cholesterol.
- Often presents with neurological and psychiatric symptoms, cataracts, and tendinous xanthomas.
Observation:
- A 35-year-old male with a history of intractable seizures, mental retardation, cataracts, and Achilles tendon swellings.
- Elevated serum cholestanol levels and cholestanol/cholesterol ratio.
- EEG abnormalities and MRI findings of globus pallidus and white matter lesions.
Findings:
- Oral chenodeoxycholic acid (CDCA) therapy improved EEG, reduced serum cholestanol, and controlled seizures.
- Neurological symptoms and MRI-detected brain lesions showed no improvement, suggesting irreversible damage.
- CTX is identified as a potential cause of symptomatic epilepsy, with 14 of 144 reviewed cases experiencing seizures.
Implications:
- CDCA therapy can manage biochemical and seizure manifestations of CTX.
- Early diagnosis and treatment are crucial to prevent irreversible neurological damage.
- Highlights the importance of considering CTX in the differential diagnosis of epilepsy with specific clinical features.
Abstract:
A 35 year-old male was admitted to our hospital because of convulsive seizures. His parents are first cousins. No other members of his family have similar symptoms. He showed mental retardation since childhood. At age 14, he had generalized convulsive seizures that were intractable. Bilateral cataracts were found and extracted at age 18. He noticed bilateral swellings at Achilles tendons at around 25 years of age. Physical examination revealed bilateral swellings of Achilles tendons. Neurologically, he showed poor intellectual ability, hyperreflexia with positive Babinski's sign and cerebellar ataxia. Marked elevations of cholestanol level (53.84 micrograms/ml; normal: 2.71 +/- 0.81, n = 17) and cholestanol/cholesterol ratio (2.20%; normal: 0.16 +/- 0.05, n = 17) were detected in serum. EEG showed abnormal background activities with bursts of high voltage slow theta activities. MRI study showed high intensity lesions in globus pallidus and multiple lesions in white matter with long spin echo sequence. Oral administration of chenodeoxycholic acid improved EEG findings, serum cholestanol level and convulsive seizures. However, the MRI abnormalities remained unchanged, which suggested irreversible brain damage. We reviewed the previous reports of 144 cases of CTX. Fourteen cases had convulsive seizures. We stress that CTX is one the causes of symptomatic epilepsy.