Monseur BC, Anastasio HB, Haddad A and Al-Kouatly HB
Background: Familial hemiplegic migraine (FHM) is an autosomal dominant disorder comprised of migraine with aura and associated neurologic deficit, classically motor (i.e. hemiparesis). Three genes are described in the literature in relation to FHM: CACNA1A (FHM1), ATP1A2 (FHM2), and SCN1A (FHM3). We report the first successful pregnancy outcome in a woman with FHM.
Case presentation: The patient is a 28 year-old Caucasian primigravida who transferred care at 29 weeks gestation with a history of FHM and a genetic diagnosis of CACNA1A mutation, reporting 14 years of neurologic symptoms including episodic eye twitching, bilateral weakness, dysarthia, paresthesia, aphasia, and apraxia, lasting from hours to days. She was on acetazolamide which resolved her symptoms. Her care required multidisciplinary approach from maternal fetal medicine, reproductive endocrinology, anesthesia, and obstetrics to plan for pregnancy management and delivery. Due to concerns about physical exertion and valsalva with vaginal delivery triggering a symptomatic event, the decision from various teams and the patient was to perform a cesarean section for delivery, Patient had an uncomplicated cesarean delivery following pre-loading with intravenous fluids prior to spinal anesthesia. A viable female infant was born, and patient had uneventful postpartum course. Upon further review of the genetic report, whole exome sequencing had been performed and a CACNA1A variant was classified as a variant of uncertain significance then. Reanalysis of the CACNA1A reported variant in ClinVar revealed that her mutation is currently classified as benign by several large reference laboratories.
Conclusion: We reviewed the pathogenesis of FHM and management options. A multi-disciplinary approach resulted in a healthy outcome for the mother and her newborn. In addition, our case highlights the importance of not only obtaining the original genetic report but also to consider reanalysis of the genetic results. As the field of neurogenetics expands rapidly, genetic variants in databases are reevaluated overtime allowing updated classifications of predicted pathogenicity.PDF
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