Akademik Veri Yönetim Sistemi
INAC 2024, Berlin, Almanya, 5 - 08 Aralık 2024, (Yayınlanmadı)
Introduction:
Sengers syndrome is a rare autosomal recessive mitochondrial disease characterised by lactic acidosis, hypertrophic cardiomyopathy and cataract. It is presented
in two ways: a severe neonatal and less severe late onset presentation. It is caused by loss of function in the gene encoding acyglycerol kinase (AGK).
Case Presentation:
The presented case was female born by cesarean section with APGAR 8/9, at 372 gestation weeks, weighing 2030 grams, died due to refractory lactic acidosis
on the second day of her life. Parents were consanguineous. She was admitted to NICU due to hypoglycemia and mild lactic acidosis. Lactic acidosis worsened
despite fluid treatment and infusion of the highest dose of bicarbonate. There was no respiratory distress and any infection finding. The infant became
progressively hypotensive despite multiple high-dose vasopressor infusions. Echocardiography performed in the first hours of life revealed no pathology other
than mild pulmonary hypertension. Refractory lactic acidosis, hypogycemia, increase in urine organic acids, reported history of the demise of two siblings with
similar findings but without any diagnosis before death in the early neonatal period suggested mitocondrial disease. Whole genom sequencing (WGS) was
requested. WGS revealed a homozygous pathogenic novel variant in AGK, c.814_815dup p.(Pro273Glyfs*27). This result is consistent with the genetic
diagnosis of autosomal recessive Sengers syndrome.
Conclusion:
Altough we did not get the result of the testing prior to our patient’s death, WGS provides the diagnosis of mitochondrial disease-Sengers syndrome, and allowes
the family the option for pre-implantation genetic testing for future pregnancies and in this way, can prevent early neonatal losses.
References
1- Beck DB, Cusmano-Ozog K, Andescavage N, Leon E. Extending the phenotypic spectrum of Sengers syndrome: Congenital lactic acidosis with synthetic
liver dysfunction. Transl Sci Rare Dis. 2018 Apr 13;3(1):45-48. doi: 10.3233/TRD-180020.
2- Wu CW, Caha M, Smoot L, Harris DJ, Roberts AE, Sacharow S, Bodamer O. Sengers syndrome and AGK-related disorders - Minireview of phenotypic
variability and clinical outcomes in molecularly confirmed cases. Mol Genet Metab. 2023 Jul;139(3):107626. doi: 10.1016/j.ymgme.2023.107626.