Ligneous conjunctivitis, hydrocephalus, hydrocele, and pulmonary involvement in a child with homozygous type I...

Area of Science:

• Ophthalmology
• Genetics
• Pediatrics

Background:

• Ligneous conjunctivitis is a rare, chronic pseudomembranous conjunctivitis often presenting in infancy.
• Plasminogen deficiency has been recently identified as a significant underlying cause.
• The condition can manifest with pseudomembranous lesions on other mucous membranes and congenital anomalies.

Observation:

• A case report of a 1-month-old Turkish infant with ligneous conjunctivitis, hydrocephalus, and hydrocele.
• The infant developed respiratory distress and tracheal pseudomembranes post-surgical intervention for hydrocephalus.
• Biochemical and genetic analyses revealed severely low plasminogen levels and a homozygous L650fsX652 mutation in the plasminogen gene.

Findings:

• The patient presented with a severe, multi-systemic manifestation of ligneous conjunctivitis associated with type I plasminogen deficiency.
• A novel homozygous mutation (L650fsX652) in the plasminogen gene was identified in the affected infant.
• Both parents were identified as heterozygous carriers for the identified mutation.

Implications:

• This case underscores the critical role of plasminogen in maintaining mucosal health and the severe consequences of its deficiency.
• Early genetic screening and diagnosis of plasminogen deficiency are crucial for managing ligneous conjunctivitis and associated complications.
• Understanding the genetic heterogeneity of plasminogen deficiency in populations like the Turkish population is important for genetic counseling and future research.