Unusual cause of cerebral calcifications in an 8-year-old girl

被引：0

作者：

Boussetta, Abir ^{[1
,2
,3
]}

Jellouli, Manel ^{[1
,2
,3
]}

Maamouri, Rym ^{[2
,4
]}

Garagah, Tahar ^{[1
,2
,3
]}

机构：

[1] Charles Nicolle Hosp, Pediat Dept, Tunis, Tunisia

[2] Univ Tunis El Manar, Fac Med Tunis, Tunis, Tunisia

[3] Charles Nicolle Hosp Tunis, Res Lab Immunopathol & Immunol Renal Transplantat, Tunis, Tunisia

[4] Habib Thameur Hosp, Dept Ophtalmol, Tunis, Tunisia

来源：

CLINICAL CASE REPORTS | 2023年 / 11卷 / 05期

关键词：

alanine-glyoxylate aminotransferase; children; end-stage renal disease; Nephrocalcinosis; nephrolithiasis;

D O I：

10.1002/ccr3.7241

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Key Clinical MessageGenetic 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.

引用

页数：3

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