Heterozygous protein C deficiency: two cases of neonatal cerebral venous thrombosis

Thrombotic accidents in the newborn, particulary 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 eithe r physiological or acquired. Case report. - Two cases of heterozygous protein C deficiency are reported in neonates. Severe neurologic distress was associated with bloody cerebros pinal fluid, and hemorrhagic lesions due to cerebral sinovenous occlusion w ere visualised by cerebral imaging, The course was severe. One case was ass ociated with renal thrombosis. Mutation in the 168 proline/leucine was defe cted by molecular biology in the neonates and their mothers, In one case a treatment with protein C had no beneficial effect. Conclusion. - Cerebral sinus venous thrombosis has to be sought by magnetic resonance imaging in the case of neurologic distress with profound cerebra l 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 b e made through molecular biology. The effect of treatment with protein C co ncentrate is questionable. (C) 2000 Editions scientifiques et medicales Els evier SAS.