Cerebrotendinous Xanthomatosis (CTX)
Introduction
- Rare autosomal recessive lipid storage disease.
- Abnormal cholestanol accumulation in the nervous system and other organ systems.
- Clinical manifestations: Brain, tendons, eyes, arteries.
- Spectrum of presentations: Infantile diarrhea, cataracts, tendon xanthomas, progressive neurologic impairments.
- Neurologic manifestations: Ataxia, dystonia, epilepsy, dementia, etc.
- Diagnostic delay: Median of 16 years.
- Early intervention with chenodeoxycholic acid (CDCA) critical for prognosis.
To read more, a subscription is needed: Click here to subscribe