Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
권호 표지
DOI QR코드

DOI QR Code

Long-term clinical course of a patient with mucopolysaccharidosis type IIIB

  • Kim, Ja Hye (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Chi, Yang Hyun (Department of Pediatrics, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine) ;
  • Kim, Gu-Hwan (Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Yoo, Han-Wook (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Lee, Jun Hwa (Department of Pediatrics, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine)
  • Received : 2014.09.22
  • Accepted : 2015.02.24
  • Published : 2016.11.15
Download PDF
⟨ Previous Next ⟩

Abstract

Mucopolysaccharidosis type III (MPS III) is a rare genetic disorder caused by lysosomal storage of heparan sulfate. MPS IIIB results from a deficiency in the enzyme alpha-N-acetyl-D-glucosaminidase (NAGLU). Affected patients begin showing behavioral changes, progressive profound mental retardation, and severe disability from the age of 2 to 6 years. We report a patient with MPS IIIB with a long-term follow-up duration. He showed normal development until 3 years. Subsequently, he presented behavioral changes, sleep disturbance, and progressive motor dysfunction. He had been hospitalized owing to recurrent pneumonia and epilepsy with severe cognitive dysfunction. The patient had compound heterozygous c.1444C>T (p.R482W) and c.1675G>T (p.D559Y) variants of NAGLU. Considering that individuals with MPS IIIB have less prominent facial features and skeletal changes, evaluation of long-term clinical course is important for diagnosis. Although no effective therapies for MPS IIIB have been developed yet, early and accurate diagnosis can provide important information for family planning in families at risk of the disorder.

Keywords

References

  1. Valstar MJ, Ruijter GJ, van Diggelen OP, Poorthuis BJ, Wijburg FA. Sanfilippo syndrome: a mini-review. J Inherit Metab Dis 2008;31:240-52. https://doi.org/10.1007/s10545-008-0838-5
  2. Lin HY, Lin SP, Chuang CK, Niu DM, Chen MR, Tsai FJ, et al. Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004. Am J Med Genet A 2009;149A:960-4. https://doi.org/10.1002/ajmg.a.32781
  3. Sohn WY, Lee JH, Paik KH, Kwon EK, Kim AH, Jin DK. Clinical and Laboratory Features of Korean Mucopolysaccharidoses (MPSs). Korean J Pediatr 2005;48:1132-8.
  4. Zhao HG, Li HH, Bach G, Schmidtchen A, Neufeld EF. The molecular basis of Sanfilippo syndrome type B. Proc Natl Acad Sci U S A 1996;93:6101-5. https://doi.org/10.1073/pnas.93.12.6101
  5. Kim YE, Park HD, Jang MA, Ki CS, Lee SY, Kim JW, et al. A novel mutation (c.200T>C) in the NAGLU gene of a Korean patient with mucopolysaccharidosis IIIB. Ann Lab Med 2013;33:221-4. https://doi.org/10.3343/alm.2013.33.3.221
  6. Bunge S, Knigge A, Steglich C, Kleijer WJ, van Diggelen OP, Beck M, et al. Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations. J Med Genet 1999;36:28-31.
  7. Wijburg FA, Wegrzyn G, Burton BK, Tylki-Szymanska A. Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder. Acta Paediatr 2013;102:462-70. https://doi.org/10.1111/apa.12169
  8. Valstar MJ, Bruggenwirth HT, Olmer R, Wevers RA, Verheijen FW, Poorthuis BJ, et al. Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype. J Inherit Metab Dis 2010;33:759-67. https://doi.org/10.1007/s10545-010-9199-y
  9. Beesley CE, Jackson M, Young EP, Vellodi A, Winchester BG. Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB). J Inherit Metab Dis 2005;28:759-67. https://doi.org/10.1007/s10545-005-0093-y
  10. Heron B, Mikaeloff Y, Froissart R, Caridade G, Maire 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:58-68.
  11. Baehner F, Schmiedeskamp C, Krummenauer F, Miebach E, Bajbouj M, Whybra C, et al. Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis 2005;28:1011-7. https://doi.org/10.1007/s10545-005-0112-z
  12. Pinto R, Caseiro C, Lemos M, Lopes L, Fontes A, Ribeiro H, et al. Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet 2004;12:87-92. https://doi.org/10.1038/sj.ejhg.5201044
  13. Lachmann RH. Enzyme replacement therapy for lysosomal storage diseases. Curr Opin Pediatr 2011;23:588-93. https://doi.org/10.1097/MOP.0b013e32834c20d9
  14. Hendriksz CJ, Burton B, Fleming TR, Harmatz P, Hughes D, Jones SA, et al. Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study. J Inherit Metab Dis 2014;37:979-90. https://doi.org/10.1007/s10545-014-9715-6