Jaber Doha, Jaber Inas, Abdallah Tumodir, Dababseh Hadi, Kharousha Abdalwahab
Faculty of Medicine, Al-Quds University, Jerusalem, Palestine.
Department of Neurosurgery, Istishari Arab Hospital, Ramallah, Palestine.
SAGE Open Med Case Rep. 2024 Jul 28;12:2050313X241267080. doi: 10.1177/2050313X241267080. eCollection 2024.
Type I plasminogen (PLG I) deficiency is a genetic disorder inherited in an autosomal recessive mode and carries high mortality and morbidity. This case report discusses two babies, aged 2 and 3 months, who were diagnosed with ligneous conjunctivitis and congenital hydrocephalus. They had progressive macrocephaly, which led to the insertion of a ventriculoperitoneal shunt. However, there was no significant improvement. During the course of the disease, they underwent genetic testing and were diagnosed with PLG I deficiency. One of the babies underwent ventriculocholecystic shunt insertion as part of palliative care and management, since this disease has poor absorption in the peritoneal cavity. Unfortunately, there was no improvement observed, and he died at 18 months. The other baby received intravenous plasma (10 ml/kg) three times a week, plus using several eye drops daily, with moderate improvement. Promising results are expected with the approved plasminogen, human-tvmh, by the Food and Drug Administration. However, access to the newly approved drug in developing countries is challenging, often hindered by cost or supply issues, necessitating the use of alternative treatments.
I型纤溶酶原（PLG I）缺乏症是一种常染色体隐性遗传的基因疾病，具有较高的死亡率和发病率。本病例报告讨论了两名分别为2个月和3个月大的婴儿，他们被诊断患有木样结膜炎和先天性脑积水。他们出现进行性巨头症，这导致了脑室腹腔分流管的植入。然而，病情并无显著改善。在疾病过程中，他们接受了基因检测，并被诊断为PLG I缺乏症。其中一名婴儿接受了脑室胆囊分流管植入作为姑息治疗和管理的一部分，因为这种疾病在腹腔内吸收不良。不幸的是，未见病情改善，他在18个月时死亡。另一名婴儿每周接受三次静脉注射血浆（10毫升/千克），并每天使用几种眼药水，病情有中度改善。美国食品药品监督管理局批准的纤溶酶原——人-tvmh有望产生良好效果。然而，在发展中国家获取这种新批准的药物具有挑战性，往往受到成本或供应问题的阻碍，因此需要使用替代治疗方法。
