Hurler syndrome. Case report

Authors

Keywords:

mucopolysaccharidosis I, Hurler syndrome, alpha-L-iduronidase

Abstract

Introduction: Hurler syndrome belongs to a group of diseases called muco polysaccharidosis and is a rare disease in pediatric age.
Patient information: 12-year-old male adolescent, product of normal delivery, who at the age of two years started with loss of speech and constant drooling. He was evaluated by the Genetics Specialist who, due to his phenotypic characteristics, suspected a possible Hurler syndrome. We present an interesting case, not commonly seen in medical practice, with the aim of informing students and health professionals about the physical characteristics of the patient, who has survived more than 10 years of life.
Conclusions: the diagnosis was confirmed by mucopolysaccharide chromatography study performed at the National Genetics Center. Patients often die in the first decade of life due to respiratory and cardiac complications, hematopoietic precursor transplantation and enzyme therapy with alpha-L-iduronidase can improve life expectancy.

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Author Biographies

Yailén Chaviano Cárdenas, Policlínico Docente "José Ramón León Acosta"

Especialista de I Grado en Pediatría

Jarvis Céspedes Cárdenas, Hospital Provincial Clínico Quirúrgico Universitario “Arnaldo Milián Castro”.

Especialista de I Grado en Medicina General Integral. Especialista de I Grado en Medicina Intensiva. Profesor Asistente en la Universidad de Ciencias Médicas de Villa Clara.

References

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Published

2023-03-29

How to Cite

1.
Chaviano Cárdenas Y, Céspedes Cárdenas J, Rodríguez Calvo MD. Hurler syndrome. Case report. Acta Méd Centro [Internet]. 2023 Mar. 29 [cited 2025 Jul. 6];17(2):349-55. Available from: https://revactamedicacentro.sld.cu/index.php/amc/article/view/1758

Issue

Vol. 17 No. 2 (2023): Abril-Junio

Section

Case Reports

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