A. Verrips et al., Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis, ARCH NEUROL, 57(4), 2000, pp. 520-524
Background: Cerebrotendinous xanthomatosis (CTS) is an autosomal recessive
disorder of bile acid synthesis. A diagnosis of CTS should be considered in
patients with premature bilateral cataracts, intractable diarrhea, neurolo
gical signs and symptoms, and tendon xanthamas, especially in the Achilles
tendons. The prevalence of these signs and symptoms increases with age.
Objectives: To investigate signs and symptoms, age at onset, and age at dia
gnosis in 32 patients with biochemically and genetically confirmed CTX and
to compare this clinical spectrum with reports in the literature.
Methods: Retrospective analysis of records of all patients with CTX at our
hospital (27 adults and 5 children)After a MEDLINE search in the English, F
rench, and German literature. 181 patients with CTX (165 adults and 16 chil
dren) were identified worldwide.
Results: Of our 32 patients with CTS, 31 (97%) had cataracts and neurologic
al signs and symptoms, predominantly pyramidal signs (26 [81%]); 21 (66%) h
ad low intelligence and 18 (56%) had cerebellar signs, Only 13 (41%) had vi
sible or palpable tendon xanthomas at the time of diagnosis. In total, 16 p
atients (50%) had chronic, intractable diarrhea that started in childhood.
These findings were in contrast with the literature, where tendon xanthomas
were reported in 89% and diarrhea in only 2 patients.
Conclusions: We believe that CTS is underdiagnosed worldwide. We recommend
that the presence of 2 of the 4 clinical: hallmarks of CTS prompt thorough
metabolic screening, including determination of urine bile alcohol excretio
n and serum cholestanol level, because CTS is a treatable disease.