Case report 30 year old woman known to have Charcot-Marie- tooth disease was booked at 9 weeks of her first pregnancy. Her grandmother, mother, sister, cousin all had CMT disease. As she was aware of the mode of inheritance she didn't want to undergo any pre-natal investigation. Neurologist and anaesthetist opinion was sought and normal delivery was planned.
An ultrasound at 28 weeks showed a normal growth. She had a consultant led care in the hospital. She had membrane sweep at 39 weeks of gestation. Induction of labour was done at 40 weeks of gestation. The labour was progressed normally and spontaneous vaginal delivery was achieved.
Discussion CMT is one of the most common heterogeneous groups of inherited peripheral neuropathies. CMT1 is caused by mutation in one of several gene expressed in Schwann cells. Electrophysiologic studies show slowing of nerve conduction. CMT1A is characterised clinically by variable degree of motor and sensory impairment which is progressive. Some patients are almost asymptomatic, while others lose their ability to walk. Pre-natal diagnosis is feasible using this molecular genetic method or using multicolour fluorescence in situ hybridisation [FISH]. In our case the woman didn't want to undergo this.
Presentation abnormalities, prematurity, growth restriction occurs more frequently in CMT patients when compared to general population which is not in our case.
The disease can get worse in pregnancy but didn't in this case.
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