title: Devastating recurrent brain ischemic infarctions and retinal disease in pediatric patients with CD59 deficiency.
abstract: Identification of CD59 p.Cys89Tyr mutation in 5 patients from North-African Jewish origin presenting with chronic inflammatory demyelinating polyradiculoneuropathy like disease and chronic hemolysis, led us to reinvestigate an unsolved disease in 2 siblings from the same origin who died 17 years ago. The two patients carried the same CD59 gene mutation previously described by our group. These children had quiet similar disease course but in addition developed devastating recurrent brain infarctions, retinal and optic nerve involvement. Revising the brain autopsy of one of these patients confirmed the finding of multiple brain infarctions of different ages. CD59 protein expression was missing on brain endothelial cells by immunohistochemical staining. This new data expands the clinical spectrum of CD59 mutations and further emphasizes the need for its early detection and treatment.
authors.affiliation: Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Ramat-Gan, Israel; Sackler School of Medicine, Tel-Aviv University, Israel. Electronic address: benzeev4@netvision.net.il.
authors.forename: Bruria
authors.initials: B
authors.lastname: Ben-Zeev
authors.affiliation: Rheumatology Research Center and Department of Medicine, Hadassah Medical Center, Hebrew University, Jerusalem, Israel.
authors.forename: Adi
authors.initials: A
authors.lastname: Tabib
authors.affiliation: Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Ramat-Gan, Israel; Sackler School of Medicine, Tel-Aviv University, Israel.
authors.forename: Andreea
authors.initials: A
authors.lastname: Nissenkorn
authors.affiliation: Sackler School of Medicine, Tel-Aviv University, Israel; Pediatric B Department, Shneider Pediatric Hospital, Belinson Medical Center, Petach Tikva, Israel.
authors.forename: Ben-Zion
authors.initials: BZ
authors.lastname: Garti
authors.affiliation: Neuroimaging Unit, Department of Radiology, Hadassah Medical Center, Hebrew University, Jerusalem, Israel.
authors.forename: John Moshe
authors.initials: JM
authors.lastname: Gomori
authors.affiliation: Pathology Department, Sheba Medical Center, Tel Hashomer, Ramat-Gan, Israel.
authors.forename: Dvora
authors.initials: D
authors.lastname: Nass
authors.affiliation: Clinical Laboratory, Hadassah Medical Center, Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Hanoch
authors.initials: H
authors.lastname: Goldshmidt
authors.affiliation: Department of Pathology, Hadassah Medical Center, Hebrew University, Jerusalem, Israel.
authors.forename: Yakov
authors.initials: Y
authors.lastname: Fellig
authors.affiliation: Sackler School of Medicine, Tel-Aviv University, Israel; Pediatric Metabolic Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Ramat-Gan, Israel.
authors.forename: Yair
authors.initials: Y
authors.lastname: Anikster
authors.affiliation: Pediatric Neurology Institute, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
authors.forename: Yoram
authors.initials: Y
authors.lastname: Nevo
authors.affiliation: Monique and Jacques Roboh Department of Genetic Research, Hadassah Medical Center, Hebrew University, Jerusalem, Israel.
authors.forename: Orly
authors.initials: O
authors.lastname: Elpeleg
authors.affiliation: Department of Medicine B Director, Center for Research in Rheumatology, Hadassah Medical Center, Hebrew University, Jerusalem, Israel. Electronic address: mevorachd@hadassah.org.il.
authors.forename: Dror
authors.initials: D
authors.lastname: Mevorach
mesh_terms: D000293:Adolescent; D000743:Anemia, Hemolytic / Q000150:complications*; D018957:CD59 Antigens / Q000235:genetics; D002544:Cerebral Infarction / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006456:Hemoglobinuria / Q000150:complications*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010375:Pedigree; D020277:Polyradiculoneuropathy, Chronic Inflammatory Demyelinating / Q000235:genetics; D012164:Retinal Diseases / Q000235:genetics*
chemical_list: D018957:CD59 Antigens
keywords: Age macular degeneration; Immune neuropathy; Membrane attack complex; Paroxysmal nocturnal hematuria; Stroke