Multiple Neonatal Deaths and Alexander's Disease: A Case Report

Abstract

AbstractFactor VII deficiency, also known as Alexander's disease, is a rare bleeding disorder due to homozygous or compound heterozygous mutations in the F7 gene and is inherited in an autosomal recessive manner. The condition manifests as a wide range of symptoms, based on the severity of the disease, and may appear at any age. While family and personal histories are essential for identification of the disorder, there is usually no history due to the autosomal recessive nature of the condition. Here, we report a case of factor VII deficiency in a family that was identified due to multiple neonatal deaths and the importance of genetic counseling and prenatal diagnosis for such scenarios.