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
Corresponding author
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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| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 November | 1 | 4 | 5 |
| 2024 October | 60 | 57 | 117 |
| 2024 September | 75 | 47 | 122 |
| 2024 August | 100 | 76 | 176 |
| 2024 July | 71 | 75 | 146 |
| 2024 June | 65 | 46 | 111 |
| 2024 May | 51 | 52 | 103 |
| 2024 April | 55 | 58 | 113 |
| 2024 March | 55 | 53 | 108 |
| 2024 February | 37 | 43 | 80 |
| 2024 January | 45 | 47 | 92 |
| 2023 December | 47 | 42 | 89 |
| 2023 November | 39 | 48 | 87 |
| 2023 October | 45 | 34 | 79 |
| 2023 September | 33 | 31 | 64 |
| 2023 August | 35 | 26 | 61 |
| 2023 July | 45 | 74 | 119 |
| 2023 June | 53 | 38 | 91 |
| 2023 May | 48 | 37 | 85 |
| 2023 April | 28 | 16 | 44 |
| 2023 March | 24 | 22 | 46 |
| 2023 February | 31 | 30 | 61 |
| 2023 January | 25 | 30 | 55 |
| 2022 December | 28 | 44 | 72 |
| 2022 November | 14 | 41 | 55 |
| 2022 October | 18 | 36 | 54 |
| 2022 September | 15 | 39 | 54 |
| 2022 August | 14 | 46 | 60 |
| 2022 July | 14 | 41 | 55 |
| 2022 June | 15 | 38 | 53 |
| 2022 May | 32 | 38 | 70 |
| 2022 April | 23 | 47 | 70 |
| 2022 March | 31 | 59 | 90 |
| 2022 February | 12 | 33 | 45 |
| 2022 January | 21 | 46 | 67 |
| 2021 December | 25 | 31 | 56 |
| 2021 November | 32 | 54 | 86 |
| 2021 October | 22 | 42 | 64 |
| 2021 September | 20 | 36 | 56 |
| 2021 August | 27 | 22 | 49 |
| 2021 July | 26 | 36 | 62 |
| 2021 June | 13 | 28 | 41 |
| 2021 May | 20 | 34 | 54 |
| 2021 April | 65 | 69 | 134 |
| 2021 March | 60 | 37 | 97 |
| 2021 February | 49 | 30 | 79 |
| 2021 January | 33 | 22 | 55 |
| 2020 December | 13 | 10 | 23 |
| 2020 November | 18 | 23 | 41 |
| 2020 October | 15 | 30 | 45 |
| 2020 September | 13 | 9 | 22 |
| 2020 August | 38 | 33 | 71 |
| 2020 July | 21 | 9 | 30 |
| 2020 June | 21 | 39 | 60 |
| 2020 May | 30 | 42 | 72 |
| 2020 April | 34 | 19 | 53 |
| 2020 March | 27 | 24 | 51 |
| 2020 February | 0 | 14 | 14 |
| 2020 January | 0 | 24 | 24 |
| 2019 December | 0 | 20 | 20 |
| 2019 November | 0 | 8 | 8 |
| 2019 October | 0 | 13 | 13 |
| 2019 September | 0 | 12 | 12 |
| 2019 August | 0 | 11 | 11 |
| 2019 July | 0 | 23 | 23 |
| 2019 June | 0 | 50 | 50 |
| 2019 May | 1 | 100 | 101 |
| 2019 April | 0 | 37 | 37 |
| 2019 March | 0 | 11 | 11 |
| 2019 February | 0 | 10 | 10 |
| 2019 January | 0 | 5 | 5 |
| 2018 December | 0 | 11 | 11 |
| 2018 September | 0 | 4 | 4 |
| 2018 August | 0 | 1 | 1 |
| 2018 July | 0 | 4 | 4 |
| 2018 June | 0 | 2 | 2 |
| 2018 May | 0 | 13 | 13 |
| 2018 April | 0 | 5 | 5 |
| 2018 March | 0 | 8 | 8 |
| 2018 February | 7 | 6 | 13 |
| 2018 January | 16 | 5 | 21 |
| 2017 December | 18 | 10 | 28 |
| 2017 November | 14 | 17 | 31 |
| 2017 October | 8 | 12 | 20 |
| 2017 September | 16 | 12 | 28 |
| 2017 August | 40 | 10 | 50 |
| 2017 July | 24 | 9 | 33 |
| 2017 June | 19 | 11 | 30 |
| 2017 May | 13 | 7 | 20 |
| 2017 April | 12 | 7 | 19 |
| 2017 March | 20 | 20 | 40 |
| 2017 February | 14 | 6 | 20 |
| 2017 January | 11 | 15 | 26 |
| 2016 December | 21 | 12 | 33 |
| 2016 November | 26 | 10 | 36 |
| 2016 October | 25 | 21 | 46 |
| 2016 September | 40 | 13 | 53 |
| 2016 August | 46 | 10 | 56 |
| 2016 July | 25 | 4 | 29 |
| 2016 June | 14 | 8 | 22 |
| 2016 May | 9 | 2 | 11 |
| 2016 April | 7 | 5 | 12 |
| 2016 March | 6 | 9 | 15 |
| 2016 February | 8 | 12 | 20 |
| 2016 January | 5 | 15 | 20 |
| 2015 December | 12 | 9 | 21 |
| 2015 November | 7 | 11 | 18 |
| 2015 October | 9 | 10 | 19 |
| 2015 September | 10 | 4 | 14 |
| 2015 August | 17 | 7 | 24 |
| 2015 July | 33 | 5 | 38 |
| 2015 June | 39 | 10 | 49 |
| 2015 May | 86 | 25 | 111 |
| 2015 April | 44 | 29 | 73 |
| 2015 March | 56 | 13 | 69 |
| 2015 February | 44 | 17 | 61 |
| 2015 January | 46 | 10 | 56 |
| 2014 December | 56 | 13 | 69 |
| 2014 November | 30 | 16 | 46 |
| 2014 October | 42 | 34 | 76 |
| 2014 September | 45 | 20 | 65 |
| 2014 August | 45 | 26 | 71 |
| 2014 July | 54 | 22 | 76 |
| 2014 June | 54 | 14 | 68 |
| 2014 May | 60 | 19 | 79 |
| 2014 April | 59 | 14 | 73 |
| 2014 March | 54 | 18 | 72 |
| 2014 February | 43 | 13 | 56 |
| 2014 January | 60 | 16 | 76 |
| 2013 December | 51 | 9 | 60 |
| 2013 November | 28 | 22 | 50 |
| 2013 October | 25 | 22 | 47 |
| 2013 September | 33 | 25 | 58 |
| 2013 August | 26 | 26 | 52 |
| 2013 July | 49 | 33 | 82 |
| 2013 June | 26 | 25 | 51 |
| 2013 May | 26 | 35 | 61 |
| 2013 April | 24 | 48 | 72 |
| 2013 March | 27 | 31 | 58 |
| 2013 February | 29 | 16 | 45 |
| 2013 January | 11 | 4 | 15 |
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