Lateralized periodic discharges due to mutated PLEKHG2 in an infant with congenital nephrotic syndrome: a case report and literature review.

ABSTRACT:

Background

Congenital nephrotic syndrome (CNS) is a rare renal disorder in infants, characterized by significant proteinuria, hypoalbuminemia, edema, and hyperlipidemia, while neurological manifestations are uncommon. Pleckstrin homology and RhoGEF domain containing G2 (PLEKHG2) gene plays a crucial role in the maturation and development of axons, dendrites, and spines. Variants in the PLEKHG2 gene have previously been linked to the development of infantile-onset epileptic encephalopathy.

Case description

We report a male infant with CNS who experienced jerky myoclonus and partial seizures since the neonatal period. Electroencephalography (EEG) revealed lateralized periodic discharges (LPDs), characterized by a triphasic wave pattern. Whole exome sequencing ide

SUBMITTER: Wang X 

PROVIDER: S-EPMC12683434 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature