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DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY RELATED TO AARS1 (DEE29), A CASE REPORT
Apresentação do caso
Female patient, the first child of a non-consanguineous couple, without relevant gestational history, presented her first epileptic seizure at 2 months of age, characterized as a focal seizure evolving into bilateral tonic clonic seizures. There were no alterations in the neurological examination nor delays in neuropsychomotor development (NPMD). In the following 2 months, he presented sporadic crises, with the same characteristics, and opted for the introduction of Phenobarbital. At 5 months, however, she evolved with infantile spasm-type crises, hypsarrhythmia on the electroencephalogram, regression of NPMD landmarks, and the head circumference growth arrest. From the medication point of view an attempt was made to control the crisis with Vigabatrin, Prednisolone, Pyridoxal Phosphate and ACTH, and the control of the spasms and resolution of the Hypsarrhythmia happened only 45 days later. Despite the spasms control, the focal seizures persisted for another 10 days, controlled later with the use of Levetiracetam. During the diagnostic investigation an epilepsy Panel identified, in heterozygosis, a pathogenic variant in the AARS1 gene (alanyl-tRNA synthetase 1, OMIM*601065).
Variations in Homozygosity or Compound Heterozygosity in the AARS1 gene have been recently described in the literature and related to Epileptic and Developmental Encephalopathy 29 (DEE29). It is a rare neurological disease, characterized by refractory epilepsy beginning in early childhood associated with global delay of NPMD. Peripheral neuropathy, areflexia, spasticity, in addition to progressive cerebral atrophy and cerebral hypomyelination on imaging examination may also accompany the condition.
Epileptic and developmental encephalopathy related to AARS1 gene alterations is a rare condition with few reports in literature. With the genetics evolution and increasing discoveries in possibly pathogenic genes, being able to characterize a phenotype and relate it to these alterations is very important, both for managing cases as for family counseling.
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Santa Casa de Misericórdia de São Paulo - São Paulo - Brasil
LAURA MARIA VISCARDI BRIGHENTI, PEDRO ZAMBUSI NAUFEL, MARCILIA LIMA MARTYN, EDUARDO FERRAZ TROIJO, LOIANE DANTE CORREIA ROCHA, DEBORA CARINHATO THOMAZ, MANOEL JACINTO ABREU NETO