Congenital Blindness, Porencephaly, and Neonatal Thrombocytopenia: A Report of Four Cases

Abstract

Four unrelated infants with neonatal thrombocytopenia associated with congenital blindness and porencephaly have been seen over an 18-year period. The association of congenital blindness with neonatal thrombocytopenia has not previously been reported. All children had clinical purpura in the neonatal period; in three cases, thrombocytopenia was confirmed, while in one case, the diagnosis of thrombocytopenia was presumptive; in two cases, there was evidence of circulating maternal serum platelet isoantibodies. Extensive investigation for intrauterine infection was negative in the three cases with confirmed thrombocytopenia. The thrombocytopenia resolved spontaneously after the neonatal period. It is postulated that the porencephalies were the consequence of prenatal cerebrovascular episodes. The etiology of the optic atrophy is unclear. Serial cranial ultrasound investigation is recommended for all neonates with thrombocytopenia, even if neurologically asymptomatic in the neonatal period, and serial prenatal cranial ultrasound investigation is recommended for infants of mothers with a history of having previously had infants with neonatal isoimmune thrombocytopenia.