Pisapia R, Capoluongo N, Palmiero G, Tascini C, Re. Relapsing Neurological Complications in a Child With ATP1A3 Gene Mutation and Influenza Infection: A Case Report. Front Neurol. 2021 Dec 15;12:774054
Mutations in the ATP1A3 gene encoding the α3 subunit of Na+/K+-ATPase are associated with different neurological manifestations that may be elicited by febrile episodes. A recently described phenotype, linked to the p.Arg756Cys mutation, is clinically characterized by Relapsing Encephalopathy with Cerebellar Ataxia (RECA). In our case, a diagnosis of RECA has been established, and despite an alternative, reasonable cause had been already identified. We describe the case of a child with two recurrent episodes, 2 years apart, of hypotonia and ataxia. In both episodes, a laboratory-confirmed influenza virus infection suggested the diagnosis of influenza-associated encephalopathy. After the second episode, a search for genetic mutations was performed, and ATP1A3 mutation associated to RECA was found. After both episodes, the child was discharged after partial improvement of neurological conditions. The diagnosis of encephalopathy in children is often challenging. A genetic predisposition to neurological decompensation should be suspected in case of recurrent episodes, even if an alternative diagnosis has been established. Indeed, febrile infections may only represent the trigger of neurological involvement. In these patients, the knowledge of a genetic predisposing factors may help in the prevention of neurological episodes by the prompt use of anti-pyrectics and preventive measures as appropriate vaccination.
See Also:
Latest articles in those days:
- Transmission dynamics of highly pathogenic avian influenza virus at the wildlife-poultry-environmental interface: A case study 7 hours ago
- Influenza A Virus Antibodies in Ducks and Introduction of Highly Pathogenic Influenza A(H5N1) Virus, Tennessee, USA 7 hours ago
- Reassortment of newly emergent clade 2.3.4.4b A(H5N1) highly pathogenic avian influenza A viruses in Bangladesh 7 hours ago
- Emergence of HPAI H5N6 Clade 2.3.4.4b in Wild Birds: A Case Study From South Korea, 2023 4 days ago
- Age-Dependent Pathogenesis of Influenza A Virus H7N9 Mediated Through PB1-F2-Induced Mitochondrial DNA Release and Activation of cGAS-STING-NF-κB Signaling 4 days ago
[Go Top] [Close Window]