Dados do Trabalho

Título

PEARSON'S SYNDROME: A CASE REPORT.

Apresentação do caso

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

Discussão

Pearson Syndrome (PS) is a multisystem disease caused by a deletion in mitochondrial DNA that ranges from 2 to 10 kilobases in size. The hallmarks are sideroblastic anemia and pancreatic insufficiency. In addition to hematologic and pancreatic symptoms, SP can harm the heart, kidneys, eyes, ears, and brain. Since its discovery in 1979 by Howard Pearson, there have been only about 100 cases reported in the medical literature. The syndrome is usually fatal in childhood. Those who survive beyond childhood develop signs and symptoms of Kearns-Sayre Syndrome or Progressive External Ophthalmoplegia.

Comentários finais

There is still no cure, there is ongoing research in general with gene therapies among others for mitochondrial diseases. Preventive measures aim to avoid secondary physiological stressors.

Referências (se houver)

SANDOVAL, Hildebrando Romero. Pearson's syndrome and its hematologic repercussion. Presentation of a clinical case. PortalesMedicos.com Electronic Magazine. Available at: https://www.portalesmedicos.com/publicaciones/articles/3889/1/Sindrome-de-Pearson-y-su-repercusion-hematologica-Presentacion-de-un-caso-clinico.html.
O'FERRALL, Erin. Mitochondrial myopathies: clinical features and diagnosis. UpToDate, July./2022.
THE CHAMP FOUNDATION. Newly diagnosed with Pearson Syndrome. Available at: https://www.thechampfoundation.org/.Accessed:2 Aug.2022

Fonte de Fomento (se houver)

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Área

Neurogenética