Cerebrotendinous Xanthomatosis

Abstract

Cerebrotendinous xanthomatosis (CTX) is a rare, disabling genetic disorder in which cholestanol and cholesterol accumulate in the nervous system and other tissues. It has an autosomal recessive mode of inheritance. Most patients are of low intelligence, and their school performance is poor, especially during the later years. The more specific clinical manifestations, however, appear in late childhood or early adolescence and involve the xanthomas of tendons, especially the Achilles tendons, the tendons of the quadriceps muscle, and the finger extensors. Furthermore, cataracts develop and during the second or third decade a slowly progressive cerebellar ataxia. Epilepsy in the form of generalized tonic-clonic seizures often has its onset in the third decade. Gradually spasticity of the legs arises, associated with loss of vibratory and position senses whereas the superficial sensory modalities remain intact. There is a slow mental deterioration. In the final stages of the disease, myoclonus of the palate and tongue are found, fibrillation of the tongue, pseudobulbar palsy, visual loss with optic atrophy, muscular wasting and loss of sphincter control. Death usually occurs in the sixth or seventh decade and is often due to unrelated causes. Premature coronary heart disease may occur, and pulmonary xanthomas may impair lung function.