Congenital hydrocephalus as a rare cause of severe type 1 plasminogene deficiency
Küçük Resim Yok
Tarih
2013
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Kare Publishing
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Severe type I plasminogen 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 plasminogen 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 plasminogen 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.
Açıklama
Anahtar Kelimeler
Congenital hydrocephaly, Ligneous conjunctivitis, Type I plasminogen deficiency
Kaynak
Turk Pediatri Arsivi
WoS Q Değeri
Scopus Q Değeri
N/A
Cilt
48
Sayı
3
