Cerebrotendinous xanthomatosis (CTX), a rare familial lipid metabolic disease inherited via an autosomal recessive trait, is caused by mutations of the sterol 27-hydroxylase gene. Psychiatric disorders may occur in patients with CTX. In Taiwan, Chang et al presented patients with CTX. However, there has not been a case presented about CTX with psychiatric disorders in Taiwan. We present three s...

The sterol storage disorder cerebrotendinous xanthomatosis (CTX) is characterized by abnormal deposition of cholesterol and cholestanol in multiple tissues. Deposition in the central nervous system leads to neurological dysfunction marked by dementia, spinal cord paresis, and cerebellar ataxia. Deposition in other tissues causes tendon xanthomas, premature atherosclerosis, and cataracts. In two...

Unconjugated bile acids in the bile of healthy and diseased humans were determined qualitatively and quantitatively by means of gas-liquid chromatography and gas-liquid chromatography-mass spectrometry, after their isolation by ion-exchange chromatography. In a healthy person and three patients with cholelithiasis, unconjugated bile acids comprised 0.1-0.4% of total biliary bile acids. The bile...

A 60-year-old man presented with an ataxic and spastic gait with paraparesis, having reported a tick bite. Brain MRI depicted bilateral corticospinal tract hyperintensities (figure). He had a mild lymphocytic meningitis (12 leukocytes/mm, proteinorachia 1.48 g/L). ELISA was positive for Lyme disease in serum (immunoglobulin G [IgG] 176 UI and immunoglobulin M,4 UI) and CSF (IgG 300 UI) with an ...