[Heterozygous protein C deficiency: apropos of 2 cases with cerebral venous thrombosis in the neonatal period].
Thrombotic accidents in the newborn, particularly cerebrovascular accidents, are reported in case of abnormalities in the coagulation system and rarely in heterozygous protein C deficiency; a low protein C level could be either physiological or acquired.


METHODS
Two cases of heterozygous protein C deficiency are reported in neonates. Severe neurologic distress was associated with bloody cerebrospinal fluid, and hemorrhagic lesions due to cerebral sinovenous occlusion were visualised by cerebral imaging. The course was severe. One case was associated with renal thrombosis. Mutation in the 168 proline/leucine was detected by molecular biology in the neonates and their mothers. In one case a treatment with protein C had no beneficial effect.


CONCLUSIONS
Cerebral sinus venous thrombosis has to be sought by magnetic resonance imaging in the case of neurologic distress with profound cerebral hemorrhage in the newborn. A low level of protein C has to be interpreted with caution. The diagnosis of a heterozygous deficiency status can only be made through molecular biology. The effect of treatment with protein C concentrate is questionable.
Ibrahim
A
A
Service de réanimation pédiatrique en néonatologie, Hôpital Nord, Saint-Etienne, France.
Damon
G
G
Teyssier
G
G
Billiemaz
K
K
Rayet
I
I
Tardy
B
B
D002543:Cerebral Hemorrhage / Q000209:etiology; D002550:Cerebral Veins / Q000473:pathology*; D005500:Follow-Up Studies; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D020767:Intracranial Thrombosis / Q000209:etiology*; D007930:Leucine / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics; D011392:Proline / Q000235:genetics; D011486:Protein C / Q000627:therapeutic use; D020151:Protein C Deficiency / Q000235:genetics*; D012082:Renal Veins / Q000473:pathology; D012851:Sinus Thrombosis, Intracranial / Q000209:etiology; D016896:Treatment Outcome; D020246:Venous Thrombosis / Q000209:etiology
D011486:Protein C; D011392:Proline; D007930:Leucine