Mitochondrial POLG related disorder presenting prenatally with fetal cerebellar growth arrest

作者：Inbar Feigenberg Michal^*; Blaser Susan; Hawkins Cynthia; Shannon Patrick; Hewson Stacy; Chitayat David

来源：Metabolic Brain Disease, 2018, 33(4): 1369-1373.

DOI：10.1007/s11011-018-0218-2

• Mitochondrial disorder
• Polymerase gamma (POLG1) gene
• POLG related disorders
• Cerebellar growth arrest
• Prenatal diagnosis
• MRI
• Fetal

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).

• 出版日期2018-8