Update on pregnant patient with mitochondrial degenerative disease

PIG Meeting: 4th March 2021

34yo lady booked for elective CS.


  • Mitochondrial degenerative disorder POLG
    • OSA – Central and peripheral
    • Bulbar dysfunction
    • Ophthalmoplegia
    • Ataxia, pre-pregnancy 2km with FASF, now mostly in wheelchair. Falls
    • Epileptiform EEG
  • Obesity BMI 38
  • Pregnancy:
    • G1PO
    • Pregnancy itself uneventful.
    • Nil genetic testing of partner or foetus (for mitochondrial issues or for CF known to exist in partner’s family)
    • On prophylactic clexane due to immobility
  • Distance patient (Tamworth)


  • Multidisciplinary involvement needed
    • Cardiology – TTE and Holter monitor required due to symptoms of possible decompensated heart failure, and the risk of cardiomyopathy and dysrhythmias associated with this condition.
    • Neurology – ambulatory EEG required due to recent symptoms possibly due to nocturnal seizures and the risk of refractory, fatal seizures with this condition
    • Resp –  CPAP manlfunctioning
  • Concern that this patient required high level multidisciplinary care which is impossible to access from her distant location. Also mindful of the risk of further decompensation of her medical issues or an obstetric issue necessitating delivery in Tamworth, where the outcome may be poor for both mother and foetus.
  • Suggested to obstetric team that this patient be admitted to enable all reviews and investigations, and then remain an inpatient with ICU level 2 after the delivery.