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Cerebrotendinous xanthomatosis: Clinical and biochemical evaluation of eight patients and review of the literature

1991; Elsevier BV; Volume: 102; Issue: 2 Linguagem: Inglês

10.1016/0022-510x(91)90073-g

1878-5883

Masaru Kuriyama, Jiro Fujiyama, Hiroaki Yoshidome, Satoshi Takenaga, Kenji Matsumuro, Takeshi Kasama, Katsutoshi Fukuda, Taiju Kuramoto, Takahiko Hoshita, Yousuke Seyama, Yosuke Okatu, Mituhiro Osame,

Coagulation, Bradykinin, Polyphosphates, and Angioedema

We present the clinical and laboratory findings of 8 patients with cerebrotendinous xanthomatosis. The clinical features consisted of a combination of bilateral Achilles tendon xanthomas, cataracts, low intelligence, pyramidal signs, cerebellar signs, convulsions, peripheral neuropathy, foot deformity, cardiovascular disease or atherosclerosis, EEG abnormality, and increased CSF protein. Increased cholesterol was present in the serum, CSF and red cell membrane of all 8 patients. The bile of one patient with late age onset of the disease showed an attenuated production of bile acids and bile alcohols. Three of the 7 had obstruction and/or marked narrowing of the coronary arteries. Data on 136 patients reported throughout the world are reviewed.