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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Elsevier
2025-03-01
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| Series: | Molecular Genetics and Metabolism Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426925000035 |
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| author | Badr Mohammad Alsaleem Amna Basheer Ahmed Muhannad M. Alruwaithi Tarig Yassin Alamery Norah Nasser Alrajhi |
| author_facet | Badr Mohammad Alsaleem Amna Basheer Ahmed Muhannad M. Alruwaithi Tarig Yassin Alamery Norah Nasser Alrajhi |
| author_sort | Badr Mohammad Alsaleem |
| collection | DOAJ |
| description | 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 to date. All three presented with intractable congenital diarrhea, a hallmark manifestation of the disease. The diagnosis was confirmed through metabolic bile acids analysis in urine and genetic testing. The siblings were treated with Chenodeoxycholic acid (15 mg/kg/day) during the first year of treatment, resulting in an improvement in diarrhea in all three. However, cognitive function remained unimproved in one patient. Additionally, the presence of dysmorphic features, observed in these patients, have not been documented in previous CTX cases. The diagnosis prompted solely by the persistent diarrhea, highlights a critical, under-recognized early manifestation. These findings underscore the importance of raising awareness among physicians to enable early diagnosis and timely treatment, which may prevent disease progression. |
| format | Article |
| id | doaj-art-6bc3885ba3f744e783e5bb215f82b5c7 |
| institution | OA Journals |
| issn | 2214-4269 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj-art-6bc3885ba3f744e783e5bb215f82b5c72025-08-20T02:04:15ZengElsevierMolecular Genetics and Metabolism Reports2214-42692025-03-014210118810.1016/j.ymgmr.2025.101188Early diagnosis and follow-up of cerebrotendinous xanthomatosis in infant siblings presenting with congenital diarrhea: A case study from Saudi ArabiaBadr Mohammad Alsaleem0Amna Basheer Ahmed1Muhannad M. Alruwaithi2Tarig Yassin Alamery3Norah Nasser Alrajhi4Pediatric Gastroenterology Section, Intestinal Failure Program, Children's Hospital, King Fahad Medical City, Riyadh Second Health Cluster, Riyadh 11525, Saudi Arabia; Corresponding author.Pediatric Gastroenterology Section, Intestinal Failure Program, Children's Hospital, King Fahad Medical City, Riyadh Second Health Cluster, Riyadh 11525, Saudi ArabiaPediatric Gastroenterology Section, Intestinal Failure Program, Children's Hospital, King Fahad Medical City, Riyadh Second Health Cluster, Riyadh 11525, Saudi ArabiaPediatric Department, South Al Qunfudah General Hospital, Al Qunfudah 28821, Saudi ArabiaPediatric Gastroenterology Section, Intestinal Failure Program, Children's Hospital, King Fahad Medical City, Riyadh Second Health Cluster, Riyadh 11525, Saudi ArabiaCerebrotendinous 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 to date. All three presented with intractable congenital diarrhea, a hallmark manifestation of the disease. The diagnosis was confirmed through metabolic bile acids analysis in urine and genetic testing. The siblings were treated with Chenodeoxycholic acid (15 mg/kg/day) during the first year of treatment, resulting in an improvement in diarrhea in all three. However, cognitive function remained unimproved in one patient. Additionally, the presence of dysmorphic features, observed in these patients, have not been documented in previous CTX cases. The diagnosis prompted solely by the persistent diarrhea, highlights a critical, under-recognized early manifestation. These findings underscore the importance of raising awareness among physicians to enable early diagnosis and timely treatment, which may prevent disease progression.http://www.sciencedirect.com/science/article/pii/S2214426925000035Cerebrotendinous xanthomatosisDiarrheaCholestasisCataractsMental retardation |
| spellingShingle | Badr Mohammad Alsaleem Amna Basheer Ahmed Muhannad M. Alruwaithi Tarig Yassin Alamery Norah Nasser Alrajhi Early diagnosis and follow-up of cerebrotendinous xanthomatosis in infant siblings presenting with congenital diarrhea: A case study from Saudi Arabia Molecular Genetics and Metabolism Reports Cerebrotendinous xanthomatosis Diarrhea Cholestasis Cataracts Mental retardation |
| title | Early diagnosis and follow-up of cerebrotendinous xanthomatosis in infant siblings presenting with congenital diarrhea: A case study from Saudi Arabia |
| title_full | Early diagnosis and follow-up of cerebrotendinous xanthomatosis in infant siblings presenting with congenital diarrhea: A case study from Saudi Arabia |
| title_fullStr | Early diagnosis and follow-up of cerebrotendinous xanthomatosis in infant siblings presenting with congenital diarrhea: A case study from Saudi Arabia |
| title_full_unstemmed | Early diagnosis and follow-up of cerebrotendinous xanthomatosis in infant siblings presenting with congenital diarrhea: A case study from Saudi Arabia |
| title_short | Early diagnosis and follow-up of cerebrotendinous xanthomatosis in infant siblings presenting with congenital diarrhea: A case study from Saudi Arabia |
| title_sort | early diagnosis and follow up of cerebrotendinous xanthomatosis in infant siblings presenting with congenital diarrhea a case study from saudi arabia |
| topic | Cerebrotendinous xanthomatosis Diarrhea Cholestasis Cataracts Mental retardation |
| url | http://www.sciencedirect.com/science/article/pii/S2214426925000035 |
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