Recurrent Blistering Skin Lesions and Reversible Monocular Abducens Paralysis in a Patient with CD59 Deficiency

GÜNGÖR M., ODYAKMAZ DEMİRSOY E., SAKARYA GÜNEŞ A., ANIK Y., KARA B.

NEUROPEDIATRICS, vol.53, pp.140-142, 2022 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 53
  • Publication Date: 2022
  • Doi Number: 10.1055/s-0041-1742160
  • Journal Name: NEUROPEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE
  • Page Numbers: pp.140-142
  • Keywords: congenital CD59 deficiency, relapsing demyelinating peripheral neuropathies, blistering skin lesions, reversible monocular abducens palsy, HEMOLYSIS
  • Kocaeli University Affiliated: Yes

Abstract

Congenital CD59 deficiency is an autosomal recessive disease characterized by mild-to-moderate chronic intravascular hemolysis, relapsing demyelinating peripheral neuropathies, and recurrent ischemic central nervous system strokes. We report a 2-year-old Turkish girl with a history of two episodes of Guillain-Barre syndrome-like acute weakness, reversible monocular abducens paralysis, and recurrent blistering skin lesions during periods of upper respiratory tract infections. Reversible monocular abducens palsy and recurrent blistering skin lesions have not been reported previously in cases of congenital CD59 deficiency.