Pearson's syndrome: a case report
نویسندگان
چکیده
Case presentation: VTG, 2 years old, daughter of non-consanguineous parents, born by cesarean section at 35 weeks. At birth, he had neonatal sepsis and hypoglycemia. 3 months, started generalized tonic-clonic seizures associated with behavioral arrest ocular version, refractory to treatment optimization antiepileptic drugs. In addition neuropsychomotor developmental regression, sleep disturbance, changes, severe malabsorptive syndrome, dystonia, hepatitis aspartate aminotransferase transaminase levels: 207 alanine aminotransferases: 186, pancreatitis clotting disorder epistaxis, gingival bleeding, melena. During the investigation, a magnetic resonance imaging skull slight reduction in brain volume spectroscopy without alterations. Video electroencephalogram slowed background activity, slightly disorganized for age. Rare irregular epileptiform discharges focal projection right frontal region, isolated. And complete exome sequencing double mutation cis POLG gene – Haplotype. Mutation Gene heterozygosity - mutation. A segregation study was performed parents who do not have described so, reclassification as pathogenic. Closing diagnosis Pearson Syndrome (OMIM 557000), MT-CO2: Chr12(GRCh37) NC_012920.1:m.8480_13440del. He progressed total parenteral nutrition, requiring regular vitamin K replacement, using levetiracetam, phenobarbital, midazolam, chlorpromazine, B complex, folic acid, haldol, trihexyphenidyl cannabidiol, partial control myoclonic arrests.
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ژورنال
عنوان ژورنال: Arquivos De Neuro-psiquiatria
سال: 2023
ISSN: ['1678-4227', '0004-282X']
DOI: https://doi.org/10.1055/s-0043-1774605