Congenital combined vitamin K-dependent clotting factors deficiency (VKCFD) is a very rare autosomal recessive bleeding disorder. Here we report a case of a girl with novel variant in the gamma-glutamyl carboxylase (GGCX) gene leading to VKCFD. A 3-month-old girl presented to our hospital with a history of bleeding from puncture site. Laboratory evaluation showed markedly prolonged partial thromboplastin time and activated partial thromboplastin time. Activities of vitamin K-dependent factors were all low. Genetic analysis revealed a homozygous currently unreported variant in the GGCX gene further supporting a diagnosis of VKCFD type 1. VKCFD due to GGCX mutation has an overall good prognosis
*Department of Pediatrics, Division of General Pediatrics, Sheikh Khalifa Medical City
†Department of Pediatrics, Division of Pediatric Hematology and Oncology, Sheikh Khalifa Medical City, Abu Dhabi, UAE
Presented at American Society of Pediatric Hematology and Oncology Conference, 2018.
The authors declare no conflict of interest.
Reprints: Hebah S. Al Absi, MD, Department of Pediatrics, Division of General Pediatrics, Sheikh Khalifa Medical City, Al Karama street, Abu Dhabi, UAE (e-mail: email@example.com).
Received June 29, 2018
Accepted November 13, 2018