Ruxmohan Samir, Quinonez Jonathan, Yadav Randhir S, Shrestha Shumneva, Poudel Sujan, Stein Joel D
Neurology, Larkin Community Hospital, Miami, USA.
Neurology/Osteopathic Neuromuscular Medicine, Larkin Community Hospital, Miami, USA.
Cureus. 2021 Nov 29;13(11):e19988. doi: 10.7759/cureus.19988. eCollection 2021 Nov.
Protein phosphatase 2A (PP2A) is a serine-threonine phosphatase that controls a variety of cellular functions. The 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.
蛋白磷酸酶2A（PP2A）是一种丝氨酸 - 苏氨酸磷酸酶，可控制多种细胞功能。该基因位于19号染色体（19q13.41）上。其突变可中断B56δ依赖性去磷酸化，其中B56δ在神经组织中大量表达。我们报告了一例14个月大的男孩，患有婴儿痉挛症、发育迟缓、阻塞性睡眠呼吸暂停、PPP2R1A基因突变、先天性脑积水、胼胝体发育不全/缺失、脑桥小脑发育不全以及药物难治性癫痫。他接受了多次外科手术，包括内镜下第三脑室造瘘术加脉络丛烧灼术、脑室腹腔分流术以及用于进行性脑积水的外引流术，同时采用多种抗癫痫方案治疗难治性癫痫，但反应不一。
