Early diagnosis and follow-up of cerebrotendinous xanthomatosis in infant siblings presenting with congenital diarrhea: A case study from Saudi Arabia

Early diagnosis and follow-up of cerebrotendinous xanthomatosis in infant siblings presenting with congenital diarrhea: A case study from Saudi Arabia

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive neurometabolic genetic disease resulting from defects in the bile acid metabolism. This report describes cases diagnosed with CTX at an exceptionally early age – 4 months (Patient #2 and #3) – making them the youngest reported cases...

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Bibliographic Details
Main Authors: Badr Mohammad Alsaleem, Amna Basheer Ahmed, Muhannad M. Alruwaithi, Tarig Yassin Alamery, Norah Nasser Alrajhi
Format: Article
Language:English
Published: Elsevier 2025-03-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Cerebrotendinous xanthomatosis
Diarrhea
Cholestasis
Cataracts
Mental retardation
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426925000035
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