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- Title
Mitochondrial POLG related disorder presenting prenatally with fetal cerebellar growth arrest.
- Authors
Inbar-Feigenberg, Michal; Blaser, Susan; Hawkins, Cynthia; Shannon, Patrick; Hewson, Stacy; Chitayat, David
- Abstract
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).
- Subjects
MITOCHONDRIAL pathology; CHORIONIC villus sampling; GESTATIONAL age; ULTRASONIC imaging; GENETIC mutation; DIAGNOSIS
- Publication
Metabolic Brain Disease, 2018, Vol 33, Issue 4, p1369
- ISSN
0885-7490
- Publication type
Article
- DOI
10.1007/s11011-018-0218-2