A Rare Case of GABAA Receptor Autoimmune Encephalitis in a Six-Year-Old Girl Improved by an Early Combined Immunotherapy

Autoimmune encephalitis (AE) is an increasingly diagnosed disease entity of autoimmune inflammatory origin affecting the central nervous system. The incidence is approximately 1.5 to 2 cases per one million children (De Bruijn et al., Neurol Neuroimmunol Neuroinflamm 2020; 7(3): e682. doi: 10.1212/NXI.0000000000000682). Differentiating between normal infantile behavior and pathological symptoms is complicated by young children's limited capacity to accurately describe symptoms. Further complexity arises due to the overlap of clinical symptoms across inflammatory, infectious, metabolic and psychiatric diseases, posing challenges to the diagnostic process (Cellucci et al., Neurol Neuroimmunol Neuroinflamm 2020; 7(2): e663. doi:10.1212/NXI.0000000000000663). In particular, it can be challenging to distinguish between viral and bacterial meningoencephalitis, acute disseminated encephalomyelitis, and AE during the early stages of the disease.The possible occurrence of a paediatric autoimmune encephalitis (AE) must be considered if the criteria established by Cellucci and colleagues are met ([Fig. 1]) (Cellucci et al., Neurol Neuroimmunol Neuroinflamm 2020; 7(2): e663. doi:10.1212/NXI.0000000000000663). An AE can be confirmed by detecting the neuronal surface antibodies present in the cerebrospinal fluid (CSF) or serum.