Metabolic Brain Disease

, Volume 33, Issue 4, pp 1369–1373 | Cite as

Mitochondrial POLG related disorder presenting prenatally with fetal cerebellar growth arrest

  • Michal Inbar-FeigenbergEmail author
  • Susan Blaser
  • Cynthia Hawkins
  • Patrick Shannon
  • Stacy Hewson
  • David Chitayat
Short Communication


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).


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


Compliance with ethical standards

Ethical approval

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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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  • Michal Inbar-Feigenberg
    • 1
    Email author
  • Susan Blaser
    • 2
  • Cynthia Hawkins
    • 3
  • Patrick Shannon
    • 4
  • Stacy Hewson
    • 1
  • David Chitayat
    • 1
    • 5
  1. 1.Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick ChildrenUniversity of TorontoTorontoCanada
  2. 2.Department of Diagnostic Imaging, Division of Neuroradiology, The Hospital for Sick ChildrenUniversity of TorontoTorontoCanada
  3. 3.Department of Paediatric Laboratory Medicine, Division of Neuropathology, The Hospital for Sick ChildrenUniversity of TorontoTorontoCanada
  4. 4.Department of Pathology & Lab Medicine, Division of Neuropathology, Mount Sinai HospitalUniversity of TorontoTorontoCanada
  5. 5.The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai HospitalUniversity of TorontoTorontoCanada

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