Novel sphingosine-1-phosphate lyase mutation causes multisystemic diseases: case report

CONCLUSIONS: Novel mutations in SGPL1 are still being identified. This case reminded us that SPLIS should not be considered for patients with nephrotic syndrome alone. Still, PAI may also include patients with neurological disorders, hypocalcemia, and pathological neuroimaging findings such as thinning at the bilateral optic nerve.PMID:38204317 | DOI:10.24953/turkjped.2022.187

Source: The Turkish Journal of Pediatrics - January 11, 2024 Category: Pediatrics Authors: G önül Büyükyılmaz Keziban Toksoy Ad ıgüzel Özlem Yüksel Aksoy Çiğdem Seher Kasapkara Gizem Ürel Demir Engin Demir Şule Berk Ergun Fatih G ürbüz Mehmet Boyraz Source Type: research