Congenital hydrocephalus as a rare cause of severe type 1 plasminogene deficiency

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

Keywords

• Congenital hydrocephaly, ligneous conjunctivitis, type I plasminogen deficiency

Doğuştan hidrosefalinin nadir bir nedeni olarak tip 1 plazminojen eksikliği

Öz

Ciddi tip 1 plazminojen eksikliği otozomal çekinik geçen ve başta göz olmak üzere müköz membranlarda kronik enflamasyona neden olan nadir bir hastalıktır En sık görülen klinik tablosu linyöz konjonktivittir Bu hastalarda nadiren doğuştan tıkayıcı hidrosefali de görülebilir Biz burada doğum öncesi hidrosefali tanısı konan ve doğumdan sonra ciddi plazminojen eksikliği olduğu gösterilen yenidoğan bir bebeği sunduk Ailenin ilk çocuğunda ve iki teyzesinde de aynı hastalığın bulunduğunu saptayıp tartıştık Tıkayıcı hidrosefali olgularında ve özellikle linyöz konjonktivit tanısı konan veya aile öyküsünde linyöz konjonktivit olduğu bilinen bebeklerde plazminojen eksikliğinin de olabileceği akılda bulundurulmalıdır.

Anahtar Kelimeler

• Doğuştan hidrosefali
• linyöz konjonktivit
• tip 1 plazminojen eksikliği

Kaynakça

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