Refractory Epilepsy in a Toddler With PPP2R1A Gene Mutation and Congenital Hydrocephalus

Abstract

Protein phosphatase 2A (PP2A) is a serine-threonine phosphatase that controls a variety of cellular functions. The PPP2R1A gene is present on chromosome 19 (19q13.41). Its mutation can interrupt B56δ-dependent dephosphorylation where B56δ is greatly expressed in the neural tissues. We present a case of a 14-month-old boy with infantile spasms, developmental delay, obstructive sleep apnea, PPP2R1A gene mutation, congenital hydrocephalus, hypoplastic/absent corpus callosum, pontocerebellar hypoplasia, and medically refractory seizures. He underwent multiple surgical procedures that include endoscopic third ventriculostomy with choroid plexus cauterization, ventriculoperitoneal shunting, and external ventricular drain for progressive hydrocephalus with multiple antiepileptic regimes for refractory epilepsy with variable response.