Presence of Diarrhea and Absence of Tendon Xanthomas in Patients With Cerebrotendinous Xanthomatosis

Abstract

We believe that CTX is underdiagnosed worldwide. We recommend that the presence of 2 of the 4 clinical hallmarks of CTX prompt thorough metabolic screening, including determination of urine bile alcohol excretion and serum cholestanol level, because CTX is a treatable disease.

Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey

“…In this series, the mean age at onset was 19, similar to that documented by Verrips et al. (18 years) [23]. The mean delay in diagnosis was 19 years, also similar to the delay of 17 years previously reported [23].…”

“…Therefore, CTX should be included among the causes of chronic myelopathy and spastic paraparesis. As in reported cases [23], not all patients had xanthomas, which were observed only in 56% in this series, thus confirming that the presence of xanthomas is not mandatory for CTX diagnosis.…”

“…(18 years) [23]. The mean delay in diagnosis was 19 years, also similar to the delay of 17 years previously reported [23]. This long delay may be partially because of the heterogeneity of neurological symptoms taht characterize CTX, the lack of specificity of early features (diarrhea, cataracts), and the unawareness of rare diseases in clinical practice.…”

Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey

“…In this series, the mean age at onset was 19, similar to that documented by Verrips et al. (18 years) [23]. The mean delay in diagnosis was 19 years, also similar to the delay of 17 years previously reported [23].…”

“…Therefore, CTX should be included among the causes of chronic myelopathy and spastic paraparesis. As in reported cases [23], not all patients had xanthomas, which were observed only in 56% in this series, thus confirming that the presence of xanthomas is not mandatory for CTX diagnosis.…”

“…(18 years) [23]. The mean delay in diagnosis was 19 years, also similar to the delay of 17 years previously reported [23]. This long delay may be partially because of the heterogeneity of neurological symptoms taht characterize CTX, the lack of specificity of early features (diarrhea, cataracts), and the unawareness of rare diseases in clinical practice.…”

Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis

“…1,6,[15][16][17]22,23 This conclusion is based on the clinical observations in cases followed over many years, such as the 43 cases we present here, the 17 cases reported by Berginer et al, the 32 cases presented by Verrips et al, the 19 cases reported by Mignarri et al, and the 40 cases presented by Sekijima et al, for a total of 151 cases. 1,6,[15][16][17] CDCA was approved by the U.S. Food and Drug Administration in 1980 for dissolution of gallstones, but has not been approved for CTX. 25,26 An unsubstantiated concern has been the belief that CTX can cause significant liver disease and that CDCA therapy may aggravate this condition.…”

Cerebrotendinous xanthomatosis

“…Seizures are encountered in 40-50% and can be presenting symptom 2 . As seen in our patient during childhood period intractable diarrhoea can be a nearly major manifestation 5,6 . He did not have any epileptic seizure.…”

Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey

“…In this series, the mean age at onset was 19, similar to that documented by Verrips et al. (18 years) [23]. The mean delay in diagnosis was 19 years, also similar to the delay of 17 years previously reported [23].…”

“…Therefore, CTX should be included among the causes of chronic myelopathy and spastic paraparesis. As in reported cases [23], not all patients had xanthomas, which were observed only in 56% in this series, thus confirming that the presence of xanthomas is not mandatory for CTX diagnosis.…”

“…(18 years) [23]. The mean delay in diagnosis was 19 years, also similar to the delay of 17 years previously reported [23]. This long delay may be partially because of the heterogeneity of neurological symptoms taht characterize CTX, the lack of specificity of early features (diarrhea, cataracts), and the unawareness of rare diseases in clinical practice.…”

Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis

“…1,6,[15][16][17]22,23 This conclusion is based on the clinical observations in cases followed over many years, such as the 43 cases we present here, the 17 cases reported by Berginer et al, the 32 cases presented by Verrips et al, the 19 cases reported by Mignarri et al, and the 40 cases presented by Sekijima et al, for a total of 151 cases. 1,6,[15][16][17] CDCA was approved by the U.S. Food and Drug Administration in 1980 for dissolution of gallstones, but has not been approved for CTX. 25,26 An unsubstantiated concern has been the belief that CTX can cause significant liver disease and that CDCA therapy may aggravate this condition.…”

Cerebrotendinous xanthomatosis

“…Seizures are encountered in 40-50% and can be presenting symptom 2 . As seen in our patient during childhood period intractable diarrhoea can be a nearly major manifestation 5,6 . He did not have any epileptic seizure.…”

Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey

“…In this series, the mean age at onset was 19, similar to that documented by Verrips et al. (18 years) [23]. The mean delay in diagnosis was 19 years, also similar to the delay of 17 years previously reported [23].…”

“…Therefore, CTX should be included among the causes of chronic myelopathy and spastic paraparesis. As in reported cases [23], not all patients had xanthomas, which were observed only in 56% in this series, thus confirming that the presence of xanthomas is not mandatory for CTX diagnosis.…”

“…(18 years) [23]. The mean delay in diagnosis was 19 years, also similar to the delay of 17 years previously reported [23]. This long delay may be partially because of the heterogeneity of neurological symptoms taht characterize CTX, the lack of specificity of early features (diarrhea, cataracts), and the unawareness of rare diseases in clinical practice.…”

Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis

“…1,6,[15][16][17]22,23 This conclusion is based on the clinical observations in cases followed over many years, such as the 43 cases we present here, the 17 cases reported by Berginer et al, the 32 cases presented by Verrips et al, the 19 cases reported by Mignarri et al, and the 40 cases presented by Sekijima et al, for a total of 151 cases. 1,6,[15][16][17] CDCA was approved by the U.S. Food and Drug Administration in 1980 for dissolution of gallstones, but has not been approved for CTX. 25,26 An unsubstantiated concern has been the belief that CTX can cause significant liver disease and that CDCA therapy may aggravate this condition.…”

Cerebrotendinous xanthomatosis

“…Seizures are encountered in 40-50% and can be presenting symptom 2 . As seen in our patient during childhood period intractable diarrhoea can be a nearly major manifestation 5,6 . He did not have any epileptic seizure.…”