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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.

Scrub typhus is endemic among farmers in the rural southern part of Nepal. It is grossly underdiagnosed due to a lack of clinical suspicion and inadequate testing facilities. The most common clinical features of the disease include fever, rashes, vomiting, myalgia, and eschar. The disease may present with ocular changes such as conjunctival injection, gastrointestinal features such as hepatitis and splenomegaly, acute kidney injury (AKI), or neurological findings in the form of meningoencephalitis. Herein, we present a report of three cases of scrub typhus from a rural part of South-west Nepal who failed to receive appropriate treatment initially. One of the patients recovered well with the treatment, the other developed AKI but recovered over the next few weeks. One of the patients died due to sepsis/multiorgan failure secondary to scrub typhus. While managing such cases in places with limited diagnostic facilities, the incorporation of early appropriate empirical therapy for scrub typhus after a careful clinical assessment prevents complications and saves lives.