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Complement Dysregulation in Infancy: A Case of CD59 Deficiency With Neurological Sequelae

Fadi Busaleh1, Heeba Y Al Kalaf2, Nabil Almajhad3

  • 1Pediatric, Maternity and Children's Hospital, Al-Ahsa, SAU.

Cureus
|June 16, 2025
PubMed

Insights

CD59 deficiency, a rare genetic disorder, causes serious complications like stroke and hemolysis. Early diagnosis and complement inhibition are crucial for managing this condition in infants.

Area of Science:

  • Genetics
  • Immunology
  • Neurology

Background:

  • CD59 deficiency is a rare autosomal recessive disorder.
  • It leads to complement-mediated hemolysis, strokes, and neuropathy.
  • Early recognition is critical to prevent irreversible complications.

Observation:

  • A two-year-old girl with consanguineous parents presented with hypotonia, motor regression, ischemic stroke, and Coombs-negative hemolytic anemia.
  • Whole exome sequencing revealed a homozygous CD59 mutation (c.323C>A; p.Ser108).

Findings:

  • The patient received immune-moderating therapy, anticoagulants, and rehabilitation.
  • Despite treatment, she experienced persistent neurological deficits and failure to thrive.

Implications:

  • CD59 deficiency should be considered in infants with unexplained hypotonia, stroke, and hemolytic anemia.
  • Early diagnosis and complement inhibition strategies may reduce the severity of complications associated with CD59 deficiency.

Keywords:
acute flaccid paralysiscd59 deficiencyimmune hemolytic anemiainfantile hypotoniainfantile strokenon-immune hemolytic anemiaparoxysmal nocturnal hemolytic anemia

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