title: Irreversible leukoencephalopathy after reduced-intensity stem cell transplantation in a dyskeratosis congenita patient with TINF2 mutation.
abstract: Hematopoietic stem cell transplantation (HSCT) for dyskeratosis congenita (DC) is challenging due to severe treatment-related adverse effects. Development of pulmonary fibrosis or veno-occlusive disease is well described in DC. However, neurological complication after HSCT has not been reported. A 9-year-old Japanese male with DC harboring the TINF2 mutation received reduced-intensity HSCT. Unfortunately, patient developed posterior reversible encephalopathy syndrome-like symptoms plausibly result by combination of thrombotic microangiopathy, graft-versus-host disease, and persistent hypertension and has been persisted mental retardation. Therefore, to decrease risk in DC cases after HSCT, strict control of hypertension, graft-versus-host disease, and thrombotic microangiopathy is required.
authors.affiliation: Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
authors.forename: Takeshi
authors.initials: T
authors.lastname: Isoda
authors.forename: Noriko
authors.initials: N
authors.lastname: Mitsuiki
authors.forename: Teppei
authors.initials: T
authors.lastname: Ohkawa
authors.forename: Setsuko
authors.initials: S
authors.lastname: Kaneko
authors.forename: Akifumi
authors.initials: A
authors.lastname: Endo
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Ono
authors.forename: Yuki
authors.initials: Y
authors.lastname: Aoki
authors.forename: Daisuke
authors.initials: D
authors.lastname: Tomizawa
authors.forename: Michiko
authors.initials: M
authors.lastname: Kajiwara
authors.forename: Satoshi
authors.initials: S
authors.lastname: Araki
authors.forename: Masayuki
authors.initials: M
authors.lastname: Nagasawa
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Morio
authors.forename: Masatoshi
authors.initials: M
authors.lastname: Takagi
authors.forename: Shuki
authors.initials: S
authors.lastname: Mizutani
mesh_terms: D002675:Child, Preschool; D019871:Dyskeratosis Congenita / Q000097:blood / Q000235:genetics / Q000601:surgery*; D018380:Hematopoietic Stem Cell Transplantation / Q000009:adverse effects* / Q000379:methods; D006801:Humans; D056784:Leukoencephalopathies / Q000097:blood / Q000209:etiology* / Q000235:genetics; D008297:Male; D009154:Mutation; D034501:Telomere-Binding Proteins / Q000235:genetics*
chemical_list: C440868:TINF2 protein, human; D034501:Telomere-Binding Proteins