Negative Regulator of Reactive Oxygen Species-Related Microgliopathy

A 21-month-old boy presented with regression of milestones since the onset of epileptic spasms at the age of 12 months, with an uneventful perinatal period. Examination revealed microcephaly, disc pallor, and spasticity. Neuroimaging showed intracranial calcifications, diffuse cerebral atrophy, corpus callosum thinning, and nonspecific white matter hyperintensities (Figure 1). Common differentials for this imaging pattern encompass congenital TORCH infection, Aicardi Gouti & egrave;res syndrome, Kearns-Sayre syndrome, and Cockayne syndrome.1 EEG showed a burst-suppression variant of hypsarrhythmia (Figure 2). Next-generation sequencing yielded a homozygous, likely pathogenic variant c.716del (p.Glu239GlyfsTer72) in exon 3 of the NRROS gene. Negative regulator of reactive oxygen species-related microgliopathy is an autosomal recessive condition presenting in late infancy with drug-refractory epilepsy, commonly epileptic spasms with intracranial calcifications and neurodegeneration.2 It facilitates activation of transforming growth factor-beta 1 in the microglia, essential for neuronal growth, survival, and differentiation. Despite treatment with steroids, vigabatrin, and multiple antiseizure medications, the spasms often persist.