The progressive myoclonus epilepsy (PME) is a rare group of clinically and genetically heterogeneous disorders characterized by myoclonus, drug refractory epilepsy, and neurological deterioration. Here, we report a three-year-old female patient with neuroregression after a period of normal development and uncontrollable myoclonic seizures, which fulfill the criteria of PME. Next-generation sequencing revealed a novel homozygous mutation of variant c.173G>C in exon 2 of the KCDT7 (potassium channel tetramerization domain containing protein 7) gene that was compatible with the diagnosis of progressive myoclonic epilepsy 3 (PME3) with or without intracellular inclusions. This is a rare report of KCTD7 mutations causing PME in the Indian population. Our findings supported the important role of KCTD7 in PME and broadened the mutation spectrum.

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Acute post-streptococcal glomerulonephritis (PSGN) is a classic example of acute nephritic syndrome in children. It is typically characterized by gross hematuria, edema, hypertension, and acute kidney injury (AKI). Patients show diverse clinical profiles from being asymptomatic to mild syndrome or significant complications such as AKI, cardiac failure, or encephalopathy. Hypertension is found in up to 90% of patients and only 10% may have neurological symptoms. Only a few present with posterior reversible encephalopathy syndrome (PRES). Although PRES is a rare, but severe complication, there is a good outcome with appropriate treatment. Here, we report a case of PSGN in an 11-year-old female child who presented with altered sensorium, seizures, and vision loss. She was diagnosed as PRES on neuroimaging, which recovered with appropriate treatment.