Journal of mucopolysaccharidosis and rare diseases

Association for Research of MPS and Rare Diseases (뮤코다당증연구학회)
권호 표지
DOI QR코드

DOI QR Code

Early Diagnosis for Mucopolysaccharidosis I - A 6-month-old Female Infant Presenting with Gibbus, Hirsutism and Mongolian Spots in a Well Baby Clinic

  • Received : 2016.05.18
  • Accepted : 2016.06.03
  • Published : 2016.06.30
Download PDF
⟨ Previous Next ⟩

Abstract

Mucopolysaccharidosis (MPS) I is a rare, progressive and multisystemic disease with insidious initial signs and symptoms, and making an early diagnosis can be a challenge for the first-line general medical practitioner. We report a 6-month-old girl who was brought to our well baby clinic for regular immunization with the manifestations of lumbar gibbus, hirsutism, large Mongolian spots over back and buttock, and mild bilateral legs spasticity noticed by the general pediatrician, and then newly diagnosed with MPS I after referral to the geneticist in time. Her surgical history included inguinal hernia repair at 1 month old, $CO_2$ laser supraglottoplasty for laryngomalacia and tracheostomy due to chronic respiratory failure with ventilator dependence at 2 months old. Understanding and identification of the early signs and symptoms of this disease have the potential to early diagnosis and timely appropriate treatment, which could contribute to a better clinical outcome.

Keywords

References

  1. Neufield EF, Muenzer J. The mucopolysaccharidoses. In: Scriver C, Beaudet AL, Valle D, Sly WS, eds. The metabolic and molecular bases of inherited disease, Vol. 136, 8th ed. New York, NY: McGraw-Hill, 2001;3421-52.
  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. Moskowitz SM, Tieu PT, Neufeld EF. Mutation in Scheie syndrome (MPS IS): a G-->A transition creates new splice site in intron 5 of one IDUA allele. Hum Mutat 1993;2:141-4. https://doi.org/10.1002/humu.1380020215
  4. Bunge S, Kleijer WJ, Steglich C, Beck M, Zuther C, Morris CP, et al. Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients. Hum Mol Genet 1994;3:861-6. https://doi.org/10.1093/hmg/3.6.861
  5. Lin SM, Lin HY, Chuang CK, Lin SP, Chen MR. Cardiovascular abnormalities in Taiwanese patients with mucopolysaccharidosis. Mol Genet Metab 2014;111:493-8. https://doi.org/10.1016/j.ymgme.2014.02.009
  6. Shih SL, Lee YJ, Lin SP, Sheu CY, Blickman JG. Airway changes in children with mucopolysaccharidoses. Acta Radiol 2002;43:40-3.
  7. Lin SP, Shih SC, Chuang CK, Lee KS, Chen MR, Niu DM, et al. Characterization of Pulmonary Function Impairments in Patients with Mucopolysaccharidoses---Changes with Age and Treatment. Pediatr Pulmonol 2014;49:277-84. https://doi.org/10.1002/ppul.22774
  8. Lin HY, Shih SC, Chuang CK, Chen MR, Niu DM, Lin SP. Assessment of Bone Mineral Density by Dual Energy X-ray Absorptiometry in Patients with Mucopolysaccharidoses. Orphanet J Rare Dis 2013;8:71. https://doi.org/10.1186/1750-1172-8-71
  9. Lin HY, Chen MR, Lin CC, Chen CP, Lin DS, Chuang CK, et al. Polysomnographic characteristics in patients with mucopolysaccharidoses. Pediatr Pulmonol 2010;45:1205-12. https://doi.org/10.1002/ppul.21309
  10. Lin HY, Shih SC, Chuang CK, Lee KS, Chen MR, Lin HC, et al. Assessment of hearing loss by pure-tone audiometry in patients with mucopolysaccharidoses. Mol Genet Metab 2014;111:533-8. https://doi.org/10.1016/j.ymgme.2014.02.003
  11. Lin HY, Chuang CK, Wang CH, Chien YH, Wang YM, Tsai FJ, et al. Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: a case series. Mol Genet Metab Rep 2016;7:63-9. https://doi.org/10.1016/j.ymgmr.2016.04.003
  12. Lin SP, Lin HY, Wang TJ, Chang CY, Lin CH, Huang SF, et al. A Pilot Newborn Screening Program for Mucopolysaccharidosis Type I in Taiwan. Orphanet J Rare Dis 2013;8:147. https://doi.org/10.1186/1750-1172-8-147
  13. Chuang CK, Lin HY, Wang TJ, Tsai CC, Liu HL, Lin SP. A modified liquid chromatography/tandem mass spectrometry method for predominant disaccharide units of urinary glycosaminoglycans in patients with mucopolysaccharidoses. Orphanet J Rare Dis 2014;9:135. https://doi.org/10.1186/s13023-014-0135-3
  14. Aldenhoven M, Jones SA, Bonney D, Borrill RE, Coussons M, Mercer J, et al. Hematopoietic cell transplantation for mucopolysaccharidosis patients is safe and effective: results after implementation of international guidelines. Biol Blood Marrow Transplant 2015;21:1106-9. https://doi.org/10.1016/j.bbmt.2015.02.011
  15. Kakkis ED, Muenzer J, Tiller GE, Waber L, Belmont J, Passage M, et al, Neufeld EF. Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med 2001;344:182-8. https://doi.org/10.1056/NEJM200101183440304
  16. Lin HY, Chuang CK, Chen MR, Lin SM, Hung CL, Chang CY, et al. Effects of Enzyme Replacement Therapy on Cardiac Structure and Function in Patients with Mucopolysaccharidoses I, II, IVA and VI. Mol Genet Metab 2016;117:431-7. https://doi.org/10.1016/j.ymgme.2016.02.003
  17. Lin HY, Lo CI, Chuang CK, Lin SP. Mucopolysaccharidosis I (Scheie syndrome) - a rare cause of severe aortic stenosis in a 31-year-old man. J Formos Med Assoc 2015;114:1015-6. https://doi.org/10.1016/j.jfma.2014.05.009
  18. Arn P, Bruce IA, Wraith JE, Travers H, Fallet S. Airway-related symptoms and surgeries in patients with mucopolysaccharidosis I. Ann Otol Rhinol Laryngol 2015;124:198-205. https://doi.org/10.1177/0003489414550154
  19. Mimouni-Bloch A, Finezilber Y, Rothschild M, Raas-Rothschild A. Extensive mongolian spots and lysosomal storage diseases. J Pediatr 2016;170:333-e1. https://doi.org/10.1016/j.jpeds.2015.11.009
  20. Roberts SB, Dryden R, Tsirikos AI. Thoracolumbar kyphosis in patients with mucopolysaccharidoses: clinical outcomes and predictive radiographic factors for progression of deformity. Bone Joint J 2016;98-B:229-37. https://doi.org/10.1302/0301-620X.98B2.36144

Cited by

  1. Mucopolysaccharidoses in Taiwan vol.4, pp.1, 2018, https://doi.org/10.19125/jmrd.2018.4.1.14
  2. An At-Risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan vol.9, pp.4, 2016, https://doi.org/10.3390/diagnostics9040140