Intracerebral Mass Bleeding in a Term Neonate: Manifestation of Hereditary Protein S Deficiency with a New Mutation in the PROS1 Gene
| Autor: | Christof Geisen, Luciana Porto, Doris Fischer, Rolf Schloesser, Hildegard Stoll |
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| Rok vydání: | 2010 |
| Předmět: |
Male
medicine.medical_specialty Protein S Deficiency Clinical Chemistry Tests Gene mutation Gastroenterology Protein S Reference Values Internal medicine Vitamin K deficiency medicine Coagulopathy Humans Point Mutation Protein S deficiency Intracerebral hemorrhage biology business.industry Infant Newborn Blood Proteins medicine.disease Magnetic Resonance Imaging Thrombosis Surgery Pediatrics Perinatology and Child Health biology.protein Differential diagnosis business Intracranial Hemorrhages Developmental Biology |
| Zdroj: | Neonatology. 98:337-340 |
| ISSN: | 1661-7819 1661-7800 |
| DOI: | 10.1159/000298282 |
| Popis: | Background: Vitamin K deficiency is the major cause of coagulopathy-induced intracranial bleeding in term neonates and is considered first in any term neonate with severe hemorrhage. The most common manifestation of hereditary prothrombotic disorders during the neonatal period is thrombosis of the A. cerebri media or sinus thrombosis. Case Report: A 4-day-old newborn was admitted with seizures and hemorrhagic shock. Ultrasound revealed a left-sided intraparenchymatous bleeding. MRI findings supported a subarachnoidal and intracerebral mass bleeding. Vitamin K deficiency-related bleeding or hemophiliac diseases were excluded; however, homozygous protein S deficiency with a new mutation in the protein S (PROS1) gene (c.701A>G, p.Tyr234Cys) was found. The patient experienced an additional thrombosis of the A. abdominalis and expired. Conclusion: Congenital prothrombotic disorders have to be considered in the differential diagnosis of neonatal intracranial hemorrhage. This newly described mutation in the PROS1 gene (c.701A>G, p.Tyr234Cys) appears to be of clinical relevance. |
| Databáze: | OpenAIRE |
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