CTX signs and lack thereof

Verrips et al. Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis. Arch Neurol 2000; 57:520-524

Summary: study of 27 adults and 5 children at Netherlands. Only 41 % had tendon xanthomas at diagnosis. 97 % had premature cataracts and 81 % had long tract signs, 66 % had low intelligence and 56 % had cerebellar signs. Half had severe intractable diarrhea that started in childhood. Suggests CTX is underdiagnosed and should be sought in patients with cataracts and early diarrhea irrespective of neurologic disease.