Case reports
Cerebrotendinous Xanthomatosis: Report of 4 Patients
Xantomatosis Cerebrotendinosa: Descripción de 4 Casos
C. Ferrándiz-Pulidoa,
, R. Bartralota, M. Girósb, P. Bassasa, C. Herasa, D. Bodeta, R. Savallc, V. García-Patosa
Autor para correspondencia
40879cfp@comb.es
Correspondence: Servicio de Dermatología, Hospital Universitario Vall d’Hebron, Paseo Vall d’Hebron, 119-129, 08035 Barcelona, Spain.
Correspondence: Servicio de Dermatología, Hospital Universitario Vall d’Hebron, Paseo Vall d’Hebron, 119-129, 08035 Barcelona, Spain.
a Servicio de Dermatología, Hospital Vall d’Hebron, Universidad Autónoma de Barcelona, Barcelona, Spain
b Sección de Errores Congénitos del Metabolismo, Servicio de Bioquímica y Genética Molecular, Hospital Clínico, Barcelona and Centro de Investigaciones para Enfermedades Raras, CIBERER Instituto de Investigaciones Carlos III, Valencia, Spain
c Servicio de Dermatología, Hospital Sant Jaume, Calella, Barcelona, Spain
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It is characterized by the presence of xanthomas in different tissues, principally brain and tendon, due to the accumulation of β-cholestanol. Diagnosis is confirmed by measurement of serum β-cholestanol and urinary bile alcohol levels. Therapy with chenodeoxycholic acid has been shown to be the most effective treatment and can halt progression of the disease. We present 4 patients with a history of neurological disorders since childhood and who were diagnosed with CTX after developing tendon xanthomas. Although diagnostic suspicion depends to a large extent on recognition of tendon xanthomas, these are not an early sign of the disease, which can present with neurological disorders, cataracts, and chronic diarrhea. Early diagnosis of CTX therefore rests on measurement of serum β-cholestanol levels, even in absence of tendon xanthomas.</p>" ] "es" => array:2 [ "titulo" => "Resumen" "resumen" => "<p class="elsevierStyleSimplePara elsevierViewall">La xantomatosis cerebrotendinosa (XCT) es una enfermedad hereditaria infrecuente causada por la mutación del gen <span class="elsevierStyleItalic">CYP27A1</span>. Es característica la aparición de xantomas en diferentes tejidos, principalmente en el cerebro y los tendones, secundarios al depósito de β-colestanol. El diagnóstico se confirma mediante la determinación de β-colestanol en suero, y de los alcoholes biliares en orina. El ácido quenodesoxicólico es la terapia más eficaz, pudiendo llegar a frenar la progresión de la enfermedad. Presentamos4 pacientes con alteraciones neurológicas desde la infancia que fueron diagnosticados de XCT tras el desarrollo de xantomas tendinosos. El reconocimiento de los xantomas tendinosos es fundamental para orientar el diagnóstico de XCT, pero estos no son un signo inicial de la enfermedad, que debuta con alteraciones neurológicas, cataratas o diarrea crónica. Por lo tanto, el diagnóstico temprano de la XCT requiere la determinación del β-colestanol sérico en estos pacientes, aun en ausencia de xantomas.</p>" ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:1 [ "bibliografiaReferencia" => array:19 [ 0 => array:3 [ "identificador" => "bib1" "etiqueta" => "1." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "V.M. Berginer" 1 => "G. Salen" 2 => "S. 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| año/Mes | Html | Total | |
|---|---|---|---|
| 2024 Noviembre | 2 | 4 | 6 |
| 2024 Octubre | 60 | 57 | 117 |
| 2024 Septiembre | 75 | 47 | 122 |
| 2024 Agosto | 100 | 76 | 176 |
| 2024 Julio | 71 | 75 | 146 |
| 2024 Junio | 65 | 46 | 111 |
| 2024 Mayo | 51 | 52 | 103 |
| 2024 Abril | 55 | 58 | 113 |
| 2024 Marzo | 55 | 53 | 108 |
| 2024 Febrero | 37 | 43 | 80 |
| 2024 Enero | 45 | 47 | 92 |
| 2023 Diciembre | 47 | 42 | 89 |
| 2023 Noviembre | 39 | 48 | 87 |
| 2023 Octubre | 45 | 34 | 79 |
| 2023 Septiembre | 33 | 31 | 64 |
| 2023 Agosto | 35 | 26 | 61 |
| 2023 Julio | 45 | 74 | 119 |
| 2023 Junio | 53 | 38 | 91 |
| 2023 Mayo | 48 | 37 | 85 |
| 2023 Abril | 28 | 16 | 44 |
| 2023 Marzo | 24 | 22 | 46 |
| 2023 Febrero | 31 | 30 | 61 |
| 2023 Enero | 25 | 30 | 55 |
| 2022 Diciembre | 28 | 44 | 72 |
| 2022 Noviembre | 14 | 41 | 55 |
| 2022 Octubre | 18 | 36 | 54 |
| 2022 Septiembre | 15 | 39 | 54 |
| 2022 Agosto | 14 | 46 | 60 |
| 2022 Julio | 14 | 41 | 55 |
| 2022 Junio | 15 | 38 | 53 |
| 2022 Mayo | 32 | 38 | 70 |
| 2022 Abril | 23 | 47 | 70 |
| 2022 Marzo | 31 | 59 | 90 |
| 2022 Febrero | 12 | 33 | 45 |
| 2022 Enero | 21 | 46 | 67 |
| 2021 Diciembre | 25 | 31 | 56 |
| 2021 Noviembre | 32 | 54 | 86 |
| 2021 Octubre | 22 | 42 | 64 |
| 2021 Septiembre | 20 | 36 | 56 |
| 2021 Agosto | 27 | 22 | 49 |
| 2021 Julio | 26 | 36 | 62 |
| 2021 Junio | 13 | 28 | 41 |
| 2021 Mayo | 20 | 34 | 54 |
| 2021 Abril | 65 | 69 | 134 |
| 2021 Marzo | 60 | 37 | 97 |
| 2021 Febrero | 49 | 30 | 79 |
| 2021 Enero | 33 | 22 | 55 |
| 2020 Diciembre | 13 | 10 | 23 |
| 2020 Noviembre | 18 | 23 | 41 |
| 2020 Octubre | 15 | 30 | 45 |
| 2020 Septiembre | 13 | 9 | 22 |
| 2020 Agosto | 38 | 33 | 71 |
| 2020 Julio | 21 | 9 | 30 |
| 2020 Junio | 21 | 39 | 60 |
| 2020 Mayo | 30 | 42 | 72 |
| 2020 Abril | 34 | 19 | 53 |
| 2020 Marzo | 27 | 24 | 51 |
| 2020 Febrero | 0 | 14 | 14 |
| 2020 Enero | 0 | 24 | 24 |
| 2019 Diciembre | 0 | 20 | 20 |
| 2019 Noviembre | 0 | 8 | 8 |
| 2019 Octubre | 0 | 13 | 13 |
| 2019 Septiembre | 0 | 12 | 12 |
| 2019 Agosto | 0 | 11 | 11 |
| 2019 Julio | 0 | 23 | 23 |
| 2019 Junio | 0 | 50 | 50 |
| 2019 Mayo | 1 | 100 | 101 |
| 2019 Abril | 0 | 37 | 37 |
| 2019 Marzo | 0 | 11 | 11 |
| 2019 Febrero | 0 | 10 | 10 |
| 2019 Enero | 0 | 5 | 5 |
| 2018 Diciembre | 0 | 11 | 11 |
| 2018 Septiembre | 0 | 4 | 4 |
| 2018 Agosto | 0 | 1 | 1 |
| 2018 Julio | 0 | 4 | 4 |
| 2018 Junio | 0 | 2 | 2 |
| 2018 Mayo | 0 | 13 | 13 |
| 2018 Abril | 0 | 5 | 5 |
| 2018 Marzo | 0 | 8 | 8 |
| 2018 Febrero | 7 | 6 | 13 |
| 2018 Enero | 16 | 5 | 21 |
| 2017 Diciembre | 18 | 10 | 28 |
| 2017 Noviembre | 14 | 17 | 31 |
| 2017 Octubre | 8 | 12 | 20 |
| 2017 Septiembre | 16 | 12 | 28 |
| 2017 Agosto | 40 | 10 | 50 |
| 2017 Julio | 24 | 9 | 33 |
| 2017 Junio | 19 | 11 | 30 |
| 2017 Mayo | 13 | 7 | 20 |
| 2017 Abril | 12 | 7 | 19 |
| 2017 Marzo | 20 | 20 | 40 |
| 2017 Febrero | 14 | 6 | 20 |
| 2017 Enero | 11 | 15 | 26 |
| 2016 Diciembre | 21 | 12 | 33 |
| 2016 Noviembre | 26 | 10 | 36 |
| 2016 Octubre | 25 | 21 | 46 |
| 2016 Septiembre | 40 | 13 | 53 |
| 2016 Agosto | 46 | 10 | 56 |
| 2016 Julio | 25 | 4 | 29 |
| 2016 Junio | 14 | 8 | 22 |
| 2016 Mayo | 9 | 2 | 11 |
| 2016 Abril | 7 | 5 | 12 |
| 2016 Marzo | 6 | 9 | 15 |
| 2016 Febrero | 8 | 12 | 20 |
| 2016 Enero | 5 | 15 | 20 |
| 2015 Diciembre | 12 | 9 | 21 |
| 2015 Noviembre | 7 | 11 | 18 |
| 2015 Octubre | 9 | 10 | 19 |
| 2015 Septiembre | 10 | 4 | 14 |
| 2015 Agosto | 17 | 7 | 24 |
| 2015 Julio | 33 | 5 | 38 |
| 2015 Junio | 39 | 10 | 49 |
| 2015 Mayo | 86 | 25 | 111 |
| 2015 Abril | 44 | 29 | 73 |
| 2015 Marzo | 56 | 13 | 69 |
| 2015 Febrero | 44 | 17 | 61 |
| 2015 Enero | 46 | 10 | 56 |
| 2014 Diciembre | 56 | 13 | 69 |
| 2014 Noviembre | 30 | 16 | 46 |
| 2014 Octubre | 42 | 34 | 76 |
| 2014 Septiembre | 45 | 20 | 65 |
| 2014 Agosto | 45 | 26 | 71 |
| 2014 Julio | 54 | 22 | 76 |
| 2014 Junio | 54 | 14 | 68 |
| 2014 Mayo | 60 | 19 | 79 |
| 2014 Abril | 59 | 14 | 73 |
| 2014 Marzo | 54 | 18 | 72 |
| 2014 Febrero | 43 | 13 | 56 |
| 2014 Enero | 60 | 16 | 76 |
| 2013 Diciembre | 51 | 9 | 60 |
| 2013 Noviembre | 28 | 22 | 50 |
| 2013 Octubre | 25 | 22 | 47 |
| 2013 Septiembre | 33 | 25 | 58 |
| 2013 Agosto | 26 | 26 | 52 |
| 2013 Julio | 49 | 33 | 82 |
| 2013 Junio | 26 | 25 | 51 |
| 2013 Mayo | 26 | 35 | 61 |
| 2013 Abril | 24 | 48 | 72 |
| 2013 Marzo | 27 | 31 | 58 |
| 2013 Febrero | 29 | 16 | 45 |
| 2013 Enero | 11 | 4 | 15 |
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