A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation
D Bamborschke, M Pergande, K Becker, F Koerber… - Brain and …, 2018 - Elsevier
Introduction Recently recessive mutations in sphingosine-1-phosphate lyase (SGPL1) have
been published as a cause of syndromic congenital nephrotic syndrome with adrenal
insufficiency. We have identified a case with fetal hydrops and brain malformations due to a
mutation in SGPL1. Case report We report a patient presenting with severe fetal hydrops,
congenital nephrotic syndrome and adrenal calcifications. MRI imaging showed generalized
cortical atrophy with simplified gyral pattern and hypoplastic temporal lobes as well as …
been published as a cause of syndromic congenital nephrotic syndrome with adrenal
insufficiency. We have identified a case with fetal hydrops and brain malformations due to a
mutation in SGPL1. Case report We report a patient presenting with severe fetal hydrops,
congenital nephrotic syndrome and adrenal calcifications. MRI imaging showed generalized
cortical atrophy with simplified gyral pattern and hypoplastic temporal lobes as well as …