Intracerebral mass bleeding in a term neonate: manifestation of hereditary protein S deficiency with a new mutation in the PROS1 gene.
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.


METHODS
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.


CONCLUSIONS
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.
Fischer
Doris
D
Division of Neonatology, Department of Pediatrics, JW Goethe University Hospital Frankfurt, Frankfurt, Germany. doris.fischer @ kgu.de
Porto
Luciana
L
Stoll
Hildegard
H
Geisen
Christof
C
Schloesser
Rolf L
RL
D001798:Blood Proteins / Q000235:genetics*; D019963:Clinical Chemistry Tests; D006801:Humans; D007231:Infant, Newborn; D020300:Intracranial Hemorrhages / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D017354:Point Mutation; D017293:Protein S; D018455:Protein S Deficiency / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D012016:Reference Values
D001798:Blood Proteins; C523390:PROS1 protein, human; D017293:Protein S