PB0194 - Severe Plasminogen Deficiency Type I in a Greek Neonate

Sunday, June 23, 2024

13:45 – 14:45 ICT

Room: Exhibition Hall

Presenting Author(s)

AD

Athina Dettoraki, MD, MSc, PhD

Paediatrician
Haemostasis and Thrombosis Unit, Haemophilia Centre, "Aghia Sophia"Children's Hospital,Athens
Athens, Attiki, Greece

Co-Author(s)

EN

Eirini Nikaina

Paediatrician
First Department of Pediatrics, Medical School, Aghia Sophia Children’s Hospital, National and Kapodistrian University of Athens, Greece
Athens, Attiki, Greece
ET

Efthymia Tsina

Proessor Paediatric Ophthalmology
Ophthalmology Department, Aghia Sophia Children’s Hospital, National and Kapodistrian University of Athens, Greece
Athens, Attiki, Greece
AM

Aikaterini Michalopoulou

Paediatrician
Haemophilia Centre/Haemostasis and Thrombosis Unit, “Aghia Sophia” Children’s Hospital, Athens, Greece
Athens, Attiki, Greece
NP

Nefeli Papageorgiou

Paediatrician
Haemophilia Centre/Haemostasis and Thrombosis Unit, “Aghia Sophia” Children’s Hospital, Athens, Greece
Athens, Attiki, Greece
MI

Maria Iliaki

Assistant Microbiologist
Haemophilia Centre/Haemostasis and Thrombosis Unit, “Aghia Sophia” Children’s Hospital, Athens, Greece
Athens, Attiki, Greece
HK

Helen Karelioti

Assistant Microbiologist
Haemophilia Centre/Haemostasis and Thrombosis Unit, “Aghia Sophia” Children’s Hospital, Athens, Greece
Athens, Attiki, Greece
IS

Ioanna Stamati

Nurse
Haemophilia Centre/Haemostasis and Thrombosis Unit, “Aghia Sophia” Children’s Hospital, Athens, Greece
Athens, Attiki, Greece
KZ

Kalliopi Zisaki

Hematologist
Department of Blood Banking, Aghia Sophia Children’s Hospital, National and Kapodistrian University of Athens, Greece
Athens, Attiki, Greece
SS

Stefan Saslis

Biologist
Haemophilia Centre/Haemostasis and Thrombosis Unit, “Aghia Sophia” Children’s Hospital, Athens, Greece
Athens, Attiki, Greece
ZK

Zoey Kapsimali

Biochemist
Haemophilia Centre/Haemostasis and Thrombosis Unit, “Aghia Sophia” Children’s Hospital, Athens, Greece
Athens, Attiki, Greece
AS

Anna Skiathitou

Neonatologist- Paediatrician
First Department of Pediatrics, Medical School, Aghia Sophia Children’s Hospital, National and Kapodistrian University of Athens, Greece
Athens, Attiki, Greece
SS

Soultana Siahanidou

Professor Neonatology-Paediatrics
First Department of Pediatrics, Medical School, Aghia Sophia Children’s Hospital, National and Kapodistrian University of Athens, Greece
Athens, Attiki, Greece
HP

Helen Pergantou

Paediatrician, Head ofHaemophilia Centre/Haemostasis and Thrombosis Unit, “Aghia Sophia” Children’s
Haemophilia Centre/Haemostasis and Thrombosis Unit, “Aghia Sophia” Children’s Hospital, Athens, Greece
Athens, Attiki, Greece

Background: Inherited hypoplasminogenaemia or type I Plasminogen (PLG) deficiency is a rare disease characterized by impaired fibrinolysis leading to the formation of ligneous pseudomembranes on mucosae during wound healing. Homozygous or compound-heterozygous type I PLG deficiency is an “ultra rare” disorder. The most common clinical manifestation is ligneous conjunctivitis, characterized by development of woodlike (“ligneous”) pseudomembranous lesions due to deposits of fibrin. Other, less common manifestations are ligneous gingivitis, tracheobronchial obstruction, congenital occlusive hydrocephalus, etc.

Aims: The aim of this study is to describe the case of a two-month-old boy with severe PLG deficiency.

Methods: Data were retrospectively collected.

Results: The baby was born at 39 weeks via cesarean section, birth weight 4510 gr. APGAR scores were 8/9. His parents are cousins. The prenatal ultrasound examination showed an extended hydrocephalus and Dandy Walker malformation, confirmed by postnatal CT scan. A VP shunt was inserted. At the age of one month, the baby developed ligneous conjunctivitis by thick pseudomembranes spreading to the upper and lower eyelids that were removed surgically several times but re-grew rapidly. Also, the results of the hearing tests are abnormal. Serum plasminogen levels were found low (12-17%). After diagnosis, intravenous fresh frozen plasma (FFP) along with FFP eye drops was administered to our patient, which is the only available treatment in Greece. Problematic venous access blocked FFP treatment, at the first days, and the baby suffered from recurrent obstructions of VP shunt. A central line catheter was inserted and FFP therapy was intense, while ligneous conjunctivitis was improved by FFP eye drops. We have requested plasminogen concentrate from abroad so as the baby could have a better outcome.

Conclusion(s): We provide data about an “ultra rare” case of a neonate with severe plasminogen deficiency. Longer follow-up after treatment with plasminogen concentrate may reveal the neurologic improvement of this baby.