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, cilt.53, ss.140-142, 2022 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 53
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1055/s-0041-1742160
  • Dergi Adı: NEUROPEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.140-142
  • Anahtar Kelimeler: congenital CD59 deficiency, relapsing demyelinating peripheral neuropathies, blistering skin lesions, reversible monocular abducens palsy, HEMOLYSIS
  • Kocaeli Üniversitesi Adresli: Evet

Özet

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.