DOI: http://dx.doi.org/10.18203/2349-3291.ijcp20150997

Chronic idiopathic thrombocytopenic purpura in a child with Sanfilippo type A

Karthik Prabhu Ramaraj, Suresh Natarajan, Ravikumar KG

Abstract


Mucopolysaccharidoses (MPS) are a group of storage disorders with an autosomal recessive inheritance. Sanfilippo disease is a type of MPS which occurs due to deficiency of lysosomal enzymes involved in the lysosomal degradation of heparan sulphate. They can be categorized into four different types based on the enzymes involved namely heparin N-sulfatase (type A), alpha-N-acetylglucosaminidase (type B), acetyl-CoA-glucosaminide acetyltransferase (type C) and N-acetylglucosamine-6-sulfatase (type D) respectively. In this case report we present a six years follow up of a child confirmed to have Sanfilippo type A disease, who developed chronic Idiopathic Thrombocytopenic Purpura (ITP).


Keywords


MPS, Sanfilippo type A, Idiopathic thrombocytopenic purpura

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References


Spranger J. Mucopolysaccharidosis. In: Spranger J, eds. Nelson Textbook of Pediatrics. 18th ed. New Delhi: Elsevier; 2008: 620-626.

Valstar MJ, Neijs S, Bruggenwrith HT, Olmer R, Ruijter GJ, Wevers RA, et al. Muchopolysaccharidosis type IIIA: clinical spectrum and genotype phenotype correlations. Ann Neurol. 2010;68(6):876-87.

Meyer A, Kossow K, Gal AC, Mühlhausen Ullrich K, Braulke T, Muschol N. Scoring evaluation of the natural course of mucopolysaccharidoses type A (Sanfilippo syndrome type A). Pediatrics. 2007;120(5):e1255-61.

Héron B, Mikaeloff Y, Froissart R, Caridade G, Marie I, Caillaud C, et al. Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. Am J Med Genet A. 2011;155A(1):58-68.

Delgadillo V, O’Callaghan M del M, Gort L, Coll MJ, Pineda M. Natural history of Sanfilippo syndrome in Spain. Orphanet J Rare Dis. 2013;8:189.

Valstar MJ, Ruijter GJ, van Diggelen OP, Poorthuis BJ, Wijburg FA. Sanfilippo syndrome: a mini-review. J Inherited Metab Dis. 2008;31(2):240-52.

Wijburg FA, Wegrzyn G, Burton BK, Tylki- Szymańska A. Muchopolysaccharidosis type III (Sanfilippo Syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder. Acta Paediatr. 2013;102(5):462-70.

Souillet G, Guffon N, Maire I, Pujol M, Taylor P, Sevin F, et al. Outcome of 27 patients with Hurler’s syndrome transplanted from either related or unrelated haematopoietic stem cell sources. Bone Marrow Transplant. 2003;31:1105-17.

Yamada Y, Kato K, Sukegawa K, Tomatsu S, Fukuda S, Emura S, et al. Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation. Bone Marrow Transplant. 1998;21:629-34.

Herskhovitz E, Young E, Rainer J, Hall CM, Lidchi V, Chong K, et al. Bone marrow transplantation for Maroteaux-Lamy syndrome (MPS VI): long-term follow-up. J Inherit Metab Dis. 1999;22:50-62.

Sivakumur P, Wraith JE. Bone marrow transplantation in mucopolysaccharidosis type IIIA: a comparison of an early treated patient with his untreated sibling. J Inherit Metab Dis. 1999;22:849-50.