title: Neurofibromatosis 1 associated with spinal muscular atrophy.
abstract: Neurofibromatosis type 1, or von Recklinghausen disease, is a progressive, autosomal dominant, monogenic disease. Spinal muscular atrophy is a progressive, autosomal recessive, monogenic disease. Specific anti-polysaccharide antibody deficiency is an immune disorder suspected in any child older than 2 years who suffers from recurrent respiratory tract infections or in patients with unusually severe complications from infections under appropriate treatment. Reported here is the coinheritance of two monogenic syndromes in the same patient, a novel association with specific anti-polysaccharide antibody deficiency.
authors.affiliation: Department of Pediatric Neurology, Federal University of Paraná, Curitiba, Paraná, Brazil. luciacoutinho@ufpr.br <luciacoutinho@ufpr.br>
authors.forename: Lúcia H
authors.initials: LH
authors.lastname: Coutinho Dos Santos
authors.forename: Rosana H
authors.initials: RH
authors.lastname: Scola
authors.forename: Nelson A
authors.initials: NA
authors.lastname: Rosário
authors.forename: Luis E
authors.initials: LE
authors.lastname: Munhoz da Rocha
authors.forename: Isac
authors.initials: I
authors.lastname: Bruck
mesh_terms: D002648:Child; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications*; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000150:complications* / Q000235:genetics; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000473:pathology