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Unusual cause of cerebral calcifications in an 8‐year‐old girl
KEY CLINICAL MESSAGE: Genetic counseling and genetic screening for hyperoxaluria should be recommended for children with urinary lithiasis for early management to avoid progression to oxalosis especially if there is a family history of lithiasis. Primary hyperoxaluria type 1 (PH1) is caused by a def...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10151599/ https://www.ncbi.nlm.nih.gov/pubmed/37143464 http://dx.doi.org/10.1002/ccr3.7241 |
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author | Boussetta, Abir Jellouli, Manel Maamouri, Rym Garagah, Tahar |
author_facet | Boussetta, Abir Jellouli, Manel Maamouri, Rym Garagah, Tahar |
author_sort | Boussetta, Abir |
collection | PubMed |
description | KEY CLINICAL MESSAGE: Genetic counseling and genetic screening for hyperoxaluria should be recommended for children with urinary lithiasis for early management to avoid progression to oxalosis especially if there is a family history of lithiasis. Primary hyperoxaluria type 1 (PH1) is caused by a deficiency of the liver peroxisomal enzyme alanine–glyoxylate aminotransferase (AGT) resulting in overproduction of calcium oxalates. In its later stage, a systemic deposit of calcium oxalates is observed. We present the case of an 8‐year‐old girl with exceptional neurological involvement secondary to this disease. |
format | Online Article Text |
id | pubmed-10151599 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-101515992023-05-03 Unusual cause of cerebral calcifications in an 8‐year‐old girl Boussetta, Abir Jellouli, Manel Maamouri, Rym Garagah, Tahar Clin Case Rep Case Images KEY CLINICAL MESSAGE: Genetic counseling and genetic screening for hyperoxaluria should be recommended for children with urinary lithiasis for early management to avoid progression to oxalosis especially if there is a family history of lithiasis. Primary hyperoxaluria type 1 (PH1) is caused by a deficiency of the liver peroxisomal enzyme alanine–glyoxylate aminotransferase (AGT) resulting in overproduction of calcium oxalates. In its later stage, a systemic deposit of calcium oxalates is observed. We present the case of an 8‐year‐old girl with exceptional neurological involvement secondary to this disease. John Wiley and Sons Inc. 2023-05-01 /pmc/articles/PMC10151599/ /pubmed/37143464 http://dx.doi.org/10.1002/ccr3.7241 Text en © 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
spellingShingle | Case Images Boussetta, Abir Jellouli, Manel Maamouri, Rym Garagah, Tahar Unusual cause of cerebral calcifications in an 8‐year‐old girl |
title | Unusual cause of cerebral calcifications in an 8‐year‐old girl |
title_full | Unusual cause of cerebral calcifications in an 8‐year‐old girl |
title_fullStr | Unusual cause of cerebral calcifications in an 8‐year‐old girl |
title_full_unstemmed | Unusual cause of cerebral calcifications in an 8‐year‐old girl |
title_short | Unusual cause of cerebral calcifications in an 8‐year‐old girl |
title_sort | unusual cause of cerebral calcifications in an 8‐year‐old girl |
topic | Case Images |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10151599/ https://www.ncbi.nlm.nih.gov/pubmed/37143464 http://dx.doi.org/10.1002/ccr3.7241 |
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