Mitochondrial POLG related disorder presenting prenatally with fetal cerebellar growth arrest
We report the prenatal findings of severe cerebellar growth arrest in two siblings with POLG1 mutations. The first presented with seizures and lactic acidosis immediately after premature birth and was diagnosed with mitochondrial disease on muscle biopsy. Molecular DNA analysis confirmed homozygous missense mutation in the POLG1 gene. The pregnancy of the second sibling was monitored closely by repeat fetal ultrasounds since the parents declined invasive testing. A detailed fetal ultrasound at 19 weeks gestation showed a small cerebellum with transcerebellar diameter (TCD) on axial cranial imaging, measuring below the 5th centile for gestational age. Molecular analysis confirmed the same homozygous familial mutation in the POLG1gene. This report further delineates the phenotypic features of the POLG related disorders and expands it to the prenatal era. Subsequent pregnancies were monitored by molecular analysis, using chorionic villus sampling (CVS).
KeywordsMitochondrial disorder Polymerase gamma (POLG1) gene POLG related disorders Cerebellar growth arrest Prenatal diagnosis MRI Fetal
Compliance with ethical standards
Written consent for this report was obtained from the family in compliance with the Hospital for Sick Children Research Ethics Board guidelines.
Conflict of interest
The authors declare that they have no conflict of interest.
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