Pediatric Research and Child Health

Intracerebral Hemorrhage in Neonates and Hereditary Thrombophilia

Author(s): Britta Gehrlein, Luciana Porto, Rolf L Schloesser, Doris Fischer

Background: Hemorrhage of the central nervous system in neonates is mostly associated with risk factors like early prematurity, way of delivery, birth trauma, vitamin K deficiency, hereditary hemophilia or acquired coagulopathy. However, in some patients the pathogenesis of ICH remains unclear. 
Patients and Methods: Cohort study of 27 term and near to term neonates with Intracerebral Hemorrhage (ICH). In the subgroup of patients without obvious risk factors for ICH (n=20), thrombophiliac diagnostic workup was performed. 
Results: 15 terms and 12 preterms (> 32 weeks GA) were examined. Way of delivery was cesarean section (n=12), assisted vaginal delivery (ventouse delivery; n=1, forceps delivery; n=3) or spontaneous (n=11). First clinical symptoms for ICH were isolated persistent abnormal body temperature (n=5) or seizures (n=14), or the combination of fever with seizures and/or paleness, muscular weakness and arterial hypotension. In this cohort study, known risk factors like birth asphyxia (n=4), vitamin K deficiency (n=1), hereditary haemophilia A (n=1) and traumatic brain injury (n=1) were identified. In 2 patients chromosomal anomalies (Prader Willi Syndrome resp. Noonan Syndrome) were diagnosed. For the remaining 18 patients; 7 cases with single or double hereditary thrombophilia (homozygous Protein S deficiency (n=1), Factor XII deficiency (n=2), Mutation in MTHFR Gene (C677T, A1298C) (n=3), Factor V Leiden Mutation (G1691A) (n=3), Prothrombin-Mutation (n=1) and Hyperhomocysteinaemia (n=1) were found.
Conclusion: Herein, an association between hereditary thrombophilia and neonatal ICH was found. Further investigations are necessary to reveal the role of hereditary thrombophilia in the pathogenesis of neonatal ICH.

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