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CC BY-NC-ND 4.0 · Journal of Fetal Medicine 2023; 10(02): 073-075
DOI: 10.1055/s-0043-57020
Case Report

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

Renu Makwana
1   Department of Obstetrics and Gynecology, Vasundhara Hospital, Nandanvan, Jodhpur, Rajasthan, India
,
Prateek Makwana
1   Department of Obstetrics and Gynecology, Vasundhara Hospital, Nandanvan, Jodhpur, Rajasthan, India
,
Simran Thawani 
2   LifeCell International Pvt Ltd, Chennai, Tamil Nadu, India
,
Neeraja Reddy Malleda
2   LifeCell International Pvt Ltd, Chennai, Tamil Nadu, India
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Abstract

Factor 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.

Keywords

Alexander's disease - prenatal diagnosis - genetic counseling - exome sequencing


Publication History

Article published online:
12 May 2023

© 2023. Society of Fetal Medicine. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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