A Case Report of a Child With Rare Phosphatidylinositol Glycan Anchor Biosynthesis Class N (PIGN) Gene Mutation With Hypotonia, Epilepsy, and Global Developmental Delay

Phosphatidylinositol glycan anchor biosynthesis class N (PIGN) gene mutation is a rare autosomal recessive genetic disorder. PIGN is essential for the glycosylphosphatidylinositol (GPI) anchor biosynthesis pathway. These mutations are linked to multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1). The affected PIGN gene leads to a significant reduction in the overall levels of GPI-anchored proteins and CD24 expression, suggesting that even partial depletion of these proteins can result in severe phenotypic manifestations. We present a case of a two-year-old boy diagnosed with spastic cerebral palsy following a hypoxic insult, who also exhibited refractory epilepsy, global developmental delay, and failure to thrive.