, Esra Işık 2
, Ebru Yılmaz 1
, Firdevs Aydın 1
, Alper Özcan 1
, Ekrem Ünal 3
, Musa Karakükçü 1
, Tahir Atik 2
, Türkan Patıroğlu 1
2Division of Pediatric Genetics, Department of Pediatrics, Ege University, İzmir, Turkey
3Department of Molecular Biology and Genetic, Gevher Nesibe Genom and Stem Cell Institution, Genome and Stem Cell Center (GENKOK), Erciyes University, Kayseri, Turkey
Abstract
Background: Type 2B von Willebrand disease (VWD) is a hereditary bleeding disorder caused by changes in the von Willebrand factor (VWF), which increases the binding of VWF to platelets. Type 2B VWD may present with thrombocytopenia.
Case Report: A four-day-old newborn was brought to the neonatal intensive care unit presenting with bleeding and severe thrombocytopenia. The platelet level was 10,000/mm3, and coagulation tests were normal. There were no clinical evidence of sepsis; therefore, alloimmune or autoimmune thrombocytopenia was suspected. When we found out that her mother and relatives had intermittent thrombocytopenia, advanced tests were performed. Ristocetin cofactor activity was low; type 2 VWD was considered. Using low-dose ristocetin, we increased platelet aggregation. Heterozygous c.3946G > A (p.Val1316Met) mutation was detected, and type 2B VWD was diagnosed.
Conclusion: Type 2B VWD may cause a diagnostic problem in the differential diagnosis of neonatal thrombocytopenia including neonatal autoimmune thrombocytopenia.