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Case Report: Early Treatment With Chenodeoxycholic Acid in Cerebrotendinous Xanthomatosis Presenting as Neonatal Cholestasis

Background: Cerebrotendinous xanthomatosis (CTX) is an inborn disorder of bile acid synthesis which causes progressive accumulation of toxic metabolites in various organs, particularly in brain and tendons. Most cases are diagnosed and treated in the second or third decade of life, when neurological...

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Autores principales: Degrassi, Irene, Amoruso, Chiara, Giordano, Giuseppe, Del Puppo, Marina, Mignarri, Andrea, Dotti, Maria Teresa, Naturale, Mauro, Nebbia, Gabriella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7381104/
https://www.ncbi.nlm.nih.gov/pubmed/32766184
http://dx.doi.org/10.3389/fped.2020.00382
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author Degrassi, Irene
Amoruso, Chiara
Giordano, Giuseppe
Del Puppo, Marina
Mignarri, Andrea
Dotti, Maria Teresa
Naturale, Mauro
Nebbia, Gabriella
author_facet Degrassi, Irene
Amoruso, Chiara
Giordano, Giuseppe
Del Puppo, Marina
Mignarri, Andrea
Dotti, Maria Teresa
Naturale, Mauro
Nebbia, Gabriella
author_sort Degrassi, Irene
collection PubMed
description Background: Cerebrotendinous xanthomatosis (CTX) is an inborn disorder of bile acid synthesis which causes progressive accumulation of toxic metabolites in various organs, particularly in brain and tendons. Most cases are diagnosed and treated in the second or third decade of life, when neurological involvement appears. We describe a case of CTX presenting as neonatal cholestasis. Results: The child presented cholestasis at 2 months of life. In the following months jaundice slowly disappeared, with a normalization of bilirubin and aminotransferases, respectively, at 6 and 8 months. A LC-Mass Spectrometry of the urines showed the presence of cholestanepentols glucuronide, which led to the suspicion of cerebrotendinous xanthomatosis. The diagnosis was confirmed by the dosage of cholestanol in serum and the molecular genetic analysis of the CYP27A1 gene. Therapy with chenodeoxycholic acid (CDCA) was started at 8 months and is still ongoing. The child was monitored for 13 years by dosage of serum cholestanol and urinary cholestanepentols. A strictly biochemical and neurological follow up was performed and no sign of neurological impairment was observed. Conclusions: Prompt diagnosis and treatment of CTX presenting as neonatal cholestasis may prevent further neurological impairment.
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spelling pubmed-73811042020-08-05 Case Report: Early Treatment With Chenodeoxycholic Acid in Cerebrotendinous Xanthomatosis Presenting as Neonatal Cholestasis Degrassi, Irene Amoruso, Chiara Giordano, Giuseppe Del Puppo, Marina Mignarri, Andrea Dotti, Maria Teresa Naturale, Mauro Nebbia, Gabriella Front Pediatr Pediatrics Background: Cerebrotendinous xanthomatosis (CTX) is an inborn disorder of bile acid synthesis which causes progressive accumulation of toxic metabolites in various organs, particularly in brain and tendons. Most cases are diagnosed and treated in the second or third decade of life, when neurological involvement appears. We describe a case of CTX presenting as neonatal cholestasis. Results: The child presented cholestasis at 2 months of life. In the following months jaundice slowly disappeared, with a normalization of bilirubin and aminotransferases, respectively, at 6 and 8 months. A LC-Mass Spectrometry of the urines showed the presence of cholestanepentols glucuronide, which led to the suspicion of cerebrotendinous xanthomatosis. The diagnosis was confirmed by the dosage of cholestanol in serum and the molecular genetic analysis of the CYP27A1 gene. Therapy with chenodeoxycholic acid (CDCA) was started at 8 months and is still ongoing. The child was monitored for 13 years by dosage of serum cholestanol and urinary cholestanepentols. A strictly biochemical and neurological follow up was performed and no sign of neurological impairment was observed. Conclusions: Prompt diagnosis and treatment of CTX presenting as neonatal cholestasis may prevent further neurological impairment. Frontiers Media S.A. 2020-07-16 /pmc/articles/PMC7381104/ /pubmed/32766184 http://dx.doi.org/10.3389/fped.2020.00382 Text en Copyright © 2020 Degrassi, Amoruso, Giordano, Del Puppo, Mignarri, Dotti, Naturale and Nebbia. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Degrassi, Irene
Amoruso, Chiara
Giordano, Giuseppe
Del Puppo, Marina
Mignarri, Andrea
Dotti, Maria Teresa
Naturale, Mauro
Nebbia, Gabriella
Case Report: Early Treatment With Chenodeoxycholic Acid in Cerebrotendinous Xanthomatosis Presenting as Neonatal Cholestasis
title Case Report: Early Treatment With Chenodeoxycholic Acid in Cerebrotendinous Xanthomatosis Presenting as Neonatal Cholestasis
title_full Case Report: Early Treatment With Chenodeoxycholic Acid in Cerebrotendinous Xanthomatosis Presenting as Neonatal Cholestasis
title_fullStr Case Report: Early Treatment With Chenodeoxycholic Acid in Cerebrotendinous Xanthomatosis Presenting as Neonatal Cholestasis
title_full_unstemmed Case Report: Early Treatment With Chenodeoxycholic Acid in Cerebrotendinous Xanthomatosis Presenting as Neonatal Cholestasis
title_short Case Report: Early Treatment With Chenodeoxycholic Acid in Cerebrotendinous Xanthomatosis Presenting as Neonatal Cholestasis
title_sort case report: early treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis presenting as neonatal cholestasis
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7381104/
https://www.ncbi.nlm.nih.gov/pubmed/32766184
http://dx.doi.org/10.3389/fped.2020.00382
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