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FIONA NI CHUILEANNAIN,1 S. MACPHAIL2 and P. MISRA1
Introduction
Friedreich's ataxia is the commonest hereditary ataxia. The first symptoms usually appear in puberty. The disorder is progressive with a duration of about 15 years so that survival is commonly to age 25-30 years. Women with this condition may request prenatal care and preconception counselling. Therefore obstetricians need to be aware of the possible complications that may arise. They need to liaise with genetic, anaesthetic and cardiology colleagues so that appropriate management can be planned. Various aspects of the management are outlined in this case report.
Case report
A 25-year old primigravida in whom a diagnosis of Friedreich's ataxia had been made 5 years previously booked at 12 weeks' gestation. Her two young siblings were also affected. Lower limb muscle weakness and ataxia necessitated the use of a wheelchair. Examination revealed dysarthria, nystagmus and ataxia. There was loss of vibration sensation and proprioception. Deep tendon reflexes were absent in the lower limbs and Babinski's sign was present bilaterally. There was no kyphoscoliosis. Normal tone and power were present in the upper limbs.
The pregnancy was planned and both she and her husband received genetic counselling before embarking on a pregnancy. The parental chromosomes were analysed and the risk of transmission in this case was considered to be 1 in 200. The pregnancy was uncomplicated until she complained of increasing shortness of breath and palpitations at 28 weeks and was therefore admitted to hospital. She was normotensive and cardiovascular and respiratory examination were normal. She was reviewed by a cardiologist as arrhymthias and cardiomyopathy are recognised complications. An electrocardiograph and echocardiogram were normal. As diabetes mellitus is a common complication a glucose tolerance test was performed and this was normal. Her symptoms resolved over the course of a few days but she remained in hospital as she was extremely anxious. During the third trimester she became increasingly dysarthric and developed upper limb muscle weakness which had not been present previously.
The patient was under the impression that a normal delivery would not be possible given the severity of her neurological disease. She was reassured that a normal delivery was not contraindicated but she persisted in her request to be delivered by...