title: Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia (LACH) in two brothers: a novel syndrome?
abstract: We report a pair of brothers who have leukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia. Both presented initially with seizures in the early postnatal period. They have significant developmental delay, and brain MRIs demonstrate leukoencephalopathy, characterized by profound hypomyelination. They have developed arthritis, which in one brother has required chronic treatment; and persistent intermittent diarrhea, necessitating treatment for inflammatory bowel disease. Finally, they have had multiple hospitalizations, including several for sepsis; an immunological analysis revealed that they have IgG1-subclass hypogammaglobulinemia and low B cell levels. There is no family history of similar problems, and these brothers have an unaffected brother. We believe this constellation of symptoms represents a novel syndrome: LACH syndrome (leukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia). The etiology of this syndrome remains unknown despite extensive investigations.
authors.affiliation: Department of Pediatrics, University of Utah School of Medicine, Health Sciences Center, 50 North Medical Drive, Salt Lake City, UT 84132, USA.
authors.forename: Joshua L
authors.initials: JL
authors.lastname: Bonkowsky
authors.forename: John F
authors.initials: JF
authors.lastname: Bohnsack
authors.forename: Mary J
authors.initials: MJ
authors.lastname: Pennington
authors.forename: David
authors.initials: D
authors.lastname: Viskochil
authors.forename: Joel A
authors.initials: JA
authors.lastname: Thompson
mesh_terms: D000361:Agammaglobulinemia / Q000235:genetics*; D001168:Arthritis / Q000235:genetics*; D002561:Cerebrovascular Disorders / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003092:Colitis / Q000235:genetics*; D006801:Humans; D008297:Male; D035781:Siblings; D013577:Syndrome