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

Year 2013, Volume: 48 Issue: 3, 248 - 250, 01.10.2013

Ali Annagür Hüseyin Altunhan Orhan Özbek Banu Turgut Öztürk Rahmi Örs

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

Abstract

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.

Keywords

Doğuştan hidrosefali, linyöz konjonktivit, tip 1 plazminojen eksikliği

References

• Schuster V, Hügle B, Tefs K. Plasminogen deficiency. J Thromb Haemost 2007; 5: 2315-22.
• Schuster V, Seidenspinner S, Müller C, Rempen A. Prenatal diagnosis in a family with severe type I plasminogen deficiency, ligneous conjunctivitis and congenital hydrocephalus. Prenat Diagn 1999; 19(5): 483-7.
• Schott D, Dempfle CE, Beck P, et al. Therapy with a purified plasminogen concentrate in an infant with ligneous conjunctivitis and homozygous plasminogen deficiency. N Engl J Med 1998; 339(23): 1679-86.
• Tefs K, Gueorguieva M, Klammt J, et al. Molecular and clinical spectrum of type I plasminogen deficiency: A series of 50 patients. Blood 2006; 108(9): 3021-6.
• Aslan AT, Ozcelik U, Dogru D, et al. Congenital hydrocephalus as a rare association with ligneous conjunctivitis and type I plasminogen deficiency. Neuropediatrics 2005; 36(2): 108-11. Ciftçi E, Ince E, Akar N, Dogru U, Tefs K, Schuster V. Ligneous conjunctivitis, hydrocephalus, hydrocele, and pulmonary involvement in a child with homozygous type I plasminogen deficiency. Eur J Pediatr 2003; 162(7-8): 462-5.
• Schuster V, Mingers AM, Seidenspinner S, Nüssgens Z, Pukrop T, Kreth HW. Homozygous mutations in the plasminogen gene of two unrelated girls with ligneous conjunctivitis. Blood 1997; 90(3): 958Lotan TL, Tefs K, Schuster V, et al. Inherited plasminogen deficiency presenting as ligneous vaginitis: a case report with molecular correlation and review of the literature. Hum Pathol 2007; 38(10): 1569-75.
• Kraft J, Lieb W, Zeitler P, Schuster V. Ligneous conjunctivitis in a girl with severe type I plasminogen deficiency. Graefes Arch Clin Exp Ophthalmol 2000; 238(9): 797-800.
• Suzuki T, Ikewaki J, Iwata H, Ohashi Y, Ichinose A. The first two Japanese cases of severe type I congenital plasminogen deficiency with ligneous conjunctivitis: successful treatment with direct thrombin inhibitor and fresh plasma. Am J Hematol 2009; 84(6): 363-5.