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Congenital hydrocephalus and ligneous conjunctivitis in two children with severe type I plasminogen deficiency: A case report and literature review

Congenital hydrocephalus and ligneous conjunctivitis in two children with severe type I plasminogen deficiency: A case report and literature review

Authors :
Doha Jaber
Inas Jaber
Tumodir Abdallah
Hadi Dababseh
Abdalwahab Kharousha
Source :
SAGE Open Medical Case Reports, Vol 12 (2024)
Publication Year :
2024
Publisher :
SAGE Publishing, 2024.

Abstract

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.

Subjects

Subjects :
Medicine (General)
R5-920

Details

Language :
English
ISSN :
2050313X
Volume :
12
Database :
Directory of Open Access Journals
Journal :
SAGE Open Medical Case Reports
Publication Type :
Academic Journal
Accession number :
edsdoj.4c4d95390f4840ddb26de564e96dbaf7
Document Type :
article
Full Text :
https://doi.org/10.1177/2050313X241267080