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Immunodeficiency Diseases

Immunodeficiency Diseases

Immunodeficiency disorders are conditions in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent. The immune system comprises a complex network of cells, tissues, and organs that work together to protect the body from potentially harmful invaders. When this system is deficient or not functioning properly, it leaves the body susceptible to infections, diseases, or other complications.
There are three main causes of immunodeficiency...

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Optic neuritis in CD59 deficiency: an extremely rare presentation.

Çağatay Günay¹, Elvan Yardım², Elif Yaşar³

¹Departments of Pediatric Neurology, Dokuz Eylul University Faculty of Medicine, İzmir, Turkey.

The Turkish Journal of Pediatrics

|September 9, 2022

Summary

CD59 deficiency, a rare condition, can cause neurological attacks like peripheral neuropathy and optic neuritis. Early recognition and treatment are crucial for managing this curable disease.

Keywords:

complement inhibition demyelinating eculizumab immune dysregulation optic neuritis

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Area of Science:

Neurology
Immunology
Genetics

Background:

CD59 protein regulates complement system, preventing cell damage.
Inherited CD59 deficiency is linked to stroke, neuropathy, and CNS attacks.
This study details a case of CD59 deficiency with unique neurological manifestations.

Observation:

An infant presented with leg weakness and poor sucking, with a sibling history of recurrent neurological episodes.
Electromyography and flow cytometry confirmed CD59 deficiency.
Genetic analysis identified a homozygous mutation (c.146delA) in the CD59 gene.

Findings:

The patient experienced two episodes of demyelinating peripheral neuropathy, treated successfully with IVIG.
A third episode of isolated optic neuritis occurred, unresponsive to IVIG but responsive to pulse steroids.
Eculizumab was initiated to prevent future attacks and reduce severity.

Implications:

CD59 deficiency, though rare, requires increased awareness among pediatric neurologists.
Optic neuritis can be a presenting symptom of CD59 deficiency.
Prompt diagnosis and treatment, including potential use of eculizumab, are vital for managing CD59 deficiency and its neurological sequelae.