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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...

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Autores principales: Boussetta, Abir, Jellouli, Manel, Maamouri, Rym, Garagah, Tahar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
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.
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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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