Recurrent angioedema, Guillain-Barr\xe9, and myelitis in a girl with systemic lupus erythematosus and CD59 deficiency syndrome

Vadood Javadi Parvaneh,Reza Shiari,Zahra Chavoshzadeh,Khosro Rahmani,Seyed Hassan Tonekaboni,Leila Ghasemi,Mahbobeh Mesdaghi

doi:10.1186/s13317-020-00132-2

Vadood Javadi Parvaneh, Reza Shiari + Show 5 more

Open Access

https://doi.org/10.1186/s13317-020-00132-2

Copy DOI

Abstract

BackgroundCD59 deficiency is a congenital mutation disorder in complement pathway which can present with various manifestations.Case presentationHerein, we presented an adolescent 16-years-old girl with recurrent attacks of Guillain-Barre in early childhood and then recurrent attacks of angioedema, paresthesia, and myelitis. Finally, she presented with quadriplegia, malar rash, proteinuria, lymphopenia, and high titer of antinuclear antibody. So, the patient developed systemic lupus erythematosus. Furthermore, we performed whole exome sequencing which revealed homozygote mutations in CD59 for the patient and heterozygote one for her parents. CD flow cytometry showed less than 1 percent expression of CD59 on the surface of the patient’s peripheral blood cells confirming the disorder. So, she had CD59 deficiency. The patient’s episodes were managed with plasma exchanges, corticosteroids, Cyclophosphamide, and Mycophenolate Mofetil which induced and maintained remission.ConclusionCD59 deficiency can be presented with various clinical features such as neurologic, hematologic, dermatologic, and rheumatologic problems including systemic lupus erythematosus.

Highlights

CD59 deficiency is a congenital mutation disorder in complement pathway which can present with various manifestations.Case presentation: we presented an adolescent 16-years-old girl with recurrent attacks of Guillain-Barre in early childhood and recurrent attacks of angioedema, paresthesia, and myelitis
CD59 deficiency can be presented with various clinical features such as neurologic, hematologic, dermatologic, and rheumatologic problems including systemic lupus erythematosus
The final result of membrane attack complex (MAC) formation is cytotoxicity, endothelial destruction and neuronal degeneration. These all are caused by transmembrane pore formation that is made by complement components including C5b, C6, C7, and C8 [4]

Summary

Introduction

CD59 deficiency is a congenital mutation disorder in complement pathway which can present with various manifestations.Case presentation: we presented an adolescent 16-years-old girl with recurrent attacks of Guillain-Barre in early childhood and recurrent attacks of angioedema, paresthesia, and myelitis. In the patient’s past medical history, she was admitted twice into the pediatric intensive care unit (PICU) at 15 and 30 months of age, because of progressive weakness, firstly in the lower limbs, and in the upper extremities, followed by ptosis and drowsiness; with both episodes occurring after gastroenteritis. Various studies which included porphyria, were performed during the hospitalization to make the correct diagnosis; the porphyria genetic test was negative.

Results

Conclusion