Neurofibromatosis 1 associated with spinal muscular atrophy

Pediatric Neurology
Lúcia H Coutinho Dos SantosIsac Bruck

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.

References

Jun 1, 1990·The Journal of Pediatrics·R Listernick, J Charrow
Dec 19, 2002·Internal Medicine·Daisuke HirataSeiji Minota
Aug 4, 2004·Brain : a Journal of Neurology·Alain DrouetAlain Créange
Oct 26, 2005·Chemistry & Biology·Mitchell R Lunn, Brent R Stockwell
Feb 6, 2007·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·S VoutoufianakisH Fryssira
Dec 7, 2007·Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology·Kenneth Paris, Ricardo U Sorensen

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