A 35-year-old primiparous woman presented at 39 weeks with first seizure on a background of alpha-1 antitrypsin deficiency (A1AD), which is associated with chronic lung and liver disease. She presented with generalised tonic seizure and intermittent word-finding difficulty. She was globally hyper-reflexic with no clonus and no other abnormal neurological findings. Urate was elevated at 0.45 but serum pathology was otherwise unremarkable. CTG and CT Brain were normal. She was treated with midazolam and magnesium sulphate for undifferentiated seizures and underwent an emergency Caesarean section with breech delivery of a well neonate. Postpartum, she was seizure-free. MRI angiogram and with gadolinium were normal and she was commenced on levetiracetam for seizure prophylaxis.
A1AD is characterised by reduced alpha 1 antitrypsin (AAT) level in plasma which can result in pulmonary emphysema and in pregnancy cause exacerbation of airways disease. More recently, however, A1AD has been associated with preeclampsia. Preeclamptic pregnancies have been associated with up to 50% lower levels of AAT when compared to normal pregnancies. In addition, AAT injection has been studied in mice with preeclampsia resulting in improved blood pressures and urine protein levels.(12)
This case poses a diagnostic dilemma due to unclear cause of seizure with possible causes including eclampsia and stroke. Although it is an atypical presentation of preeclampsia given intermittent expressive aphasia, preeclampsia was possible given onset in pregnancy, elevated urate and improvement following magnesium sulphate treatment. Conversely, it is possible that improvement was in response to levetiracetam or simply coincidental.
Seizures in pregnancy can be difficult to differentiate however require prompt management. Eclampsia should be considered in every seizure in pregnancy, even with atypical presentation. Further, there may be a relationship between preeclampsia and A1AD, however further studies are required to establish causative relationship.