Doğuştan hidrosefalinin nadir bir nedeni olarak tip 1 plazminojen eksikliği

Abstract

Severe type I plasminogen PLG deficiency is a rarely seen autosomal recessive disease that causes chronic inflammation in mucous membranes primarily eye membranes The most commonly encountered clinical manifestation is ligneous conjunctivitis In these patients congenital occlusive hydrocephaly may rarely be observed In this report we presented a newborn who had hydrocephaly in the prenatal period and presence of severe PLG deficiency was detected after birth We found that the same disease was present in two children of the family and in the aunt of the newborn and discussed this situation It should be kept in mind that PLG deficiency may also be present in cases with occlusive hydrocephaly and especially in newborns with the diagnosis of ligneous conjunctivitis and with familial history of ligneous conjunctivitis Turk Arch Ped 2013; 48: 248 250