Neurofibromatosis 1 associated with spinal muscular atrophy.
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.
Coutinho Dos Santos
Lúcia H
LH
Department of Pediatric Neurology, Federal University of Paraná, Curitiba, Paraná, Brazil. luciacoutinho@ufpr.br <luciacoutinho@ufpr.br>
Scola
Rosana H
RH
Rosário
Nelson A
NA
Munhoz da Rocha
Luis E
LE
Bruck
Isac
I
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