Neurodegeneration with brain iron accumulation associated with late-onset psychiatric symptoms

• Autor(a) principal: Santos, Júlio César Claudino dos
• Data de Publicação: 2022
• Outros Autores: Ribeiro, Luiza Sarsur, Costa, Rafaella Iughetti da, Peccin, Eduardo Bordignon, Grabowski, Paulo Andre Pera
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Debates em Psiquiatria (Online)
• Texto Completo: https://revistardp.org.br/revista/article/view/386
• topic: acúmulo de ferro no cérebro; NBIA; PKAN2; neurodegeneration; brain iron accumulation; NBIA; PKAN2; neurodegeneración; acumulación de hierro en el cerebro; NBIA; PKAN2

Introduction: The neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group of rare genetic disorders that lead to accumulation of iron in the basal nuclei, which leads to numerous neurologic disorders. This condition has been associated with many genes, PKAN2 being the most common. The treatment remains mostly symptomatic and the approach based on a multidisciplinary team is recommended. Case report: The case presented is from a 67-year-old male with iron accumulation bilaterally in the pale globes and has been having delirium for 8 months, as well as visuospatial and executive dysfunction and behavioral alterations. The patient's MRI showed abnormalities and the “eye of the tiger” sign. Furthemore, the treatment of choice was the administration of atypical antipsychotic medication, which partially controlled the patient's condition. Discussion: The most recurrent location of brain iron accumulation is in the basal ganglia and it is mainly linked with mutations in the pantothenate kinase 2 (PKAN2), which leads to psychiatric manifestations of insidious progression and can be inferred when the “eye of the tiger” sign is found in a MRI. Conclusion: The patient was diagnosed with late onset psychotic disorder, mild cognitive deficit and parkisonian syndrome. Genetic tests were not performed to diagnose the etiology. Therefore, the case is considered a NBIA of unknown cause with atypical characteristics and probable mutation linked to PANK2.