An extraordinary deceased child due to the Hurler-Scheie syndrome

Authors

  • Yannelis Martínez Yero Facultad No. 1, Universidad de Ciencias Médicas, Santiago de Cuba
  • Dulce María Echavarría Estenoz Hospital Docente Infantil Sur, Universidad de Ciencias Médicas, Santiago de Cuba

Keywords:

mucopolysaccharidosis, enzymatic failure, congenital metabolic disease, glycosaminoglycan, hepatomegaly, sleeping apnea, joint stiffness, enzymatic substitution therapy.

Abstract

The personal experience of a mother that faced the Hurler-Scheie syndrome, strange disease suffered from his son already deceased, is exposed with the purpose to demonstrate that the observation of the changes occurring in a child, is vital for his development. The care toward a young child with this disorder is indispensable to achieve a childhood with life quality; therefore, the Cuban health system should continue designing strategies that guarantee an early diagnosis and the possibility of opportune therapeutic alternatives as the enzymatic substitution therapy.

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References

1. Grupo de trabajo de enfermedades poco frecuentes. Consenso de diagnóstico y tratamiento de la mucopolisacaridosis de tipo I. Arch Argent Pediatr. 2008; 106(4):361-8.

2. Miebach E. Enzyme replacement therapy in mucopolisaccharidosis type I. Acta Paediatr Suppl. 2005; 94(447):58-60.

3. Wraith JE, Beck M, Lane R, van der Ploeg A, Shapiro E, Xue Y, et al. Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alfa-L-iduronidase (Laronidase). Pediatrics. 2007; 120(1):e37-46.

4. Muenzer J, Fisher A. Advances in the treatment of mucopolysaccharidosis Type I. N Engl J Med. 2004; 350(19):1932-4.

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Published

2016-03-01

How to Cite

1.
Martínez Yero Y, Echavarría Estenoz DM. An extraordinary deceased child due to the Hurler-Scheie syndrome. MEDISAN [Internet]. 2016 Mar. 1 [cited 2025 Jun. 3];20(3). Available from: https://medisan.sld.cu/index.php/san/article/view/614

Issue

Vol. 20 No. 3 (2016): MEDISAN

Section

Testimony

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