SÍNDROME MAROTEAUX-LAMY (MUCOPOLISACARIDOSIS TIPO VI)

  • Iván Hernández Ramírez Universidad Cooperativa de Colombia
  • Ramiro José Benavides Hospital Infantil Los Ángeles, Pasto
  • Iván Osbaldo Yamá Noguera Hospital Civil de Ipiales
  • Jennifer Martínez España Universidad Cooperativa de Colombia, Pasto
  • Carlos Hernando Rosero Erazo Universidad Cooperativa de Colombia, Pasto
Palabras clave: Mucopolisacaridosis tipo VI, glicosaminoglicanos, disostosis múltiples, Galsulfasa, Mucopolysaccharidosis type VI, glycosaminoglycans, multiple dysostosis, Galsulfase

Resumen

RESUMENSe describe el caso clínico de un paciente masculino de 17 años de edad, que presentó: talla baja, malformaciones óseo-esqueléticas, rasgos faciales toscos, hernia inguinal, hernia umbilical, disostosis múltiples, hepatoesplenomegalia, y dificultad respiratoria; antecedentes quirúrgicos: herniorrafia inguinal derecha y herniorrafia umbilical, alteraciones correspondientes a Mucopolisacaridosis (MPS) tipo VI, diagnóstico confirmado por estudio inmunohistoquímico enzimático, que reportó deficiencia de Arilsulfatasa. Se procedió al manejo farmacológico con Galsulfasa para controlar el progreso de los signos y síntomas característicos, así como las complicaciones producidas por la enfermedad.Palabras clave: Mucopolisacaridosis tipo VI, glicosaminoglicanos, disostosis múltiples, Galsulfasa.MAROTEAUX-LAMY SYNDROME (MUCOPOLYSACCHARIDOSIS TYPE VI)ABSTRACTWe describe the case of a male patient aged 17, who presented with short stature, bone-skeletal malformations, coarse facial features, inguinal hernia, umbilical hernia, multiple dysostosis, hepatosplenomegaly and difficulty in breathing; surgical history: right inguinal herniorrhaphy, umbilical herniorrhaphy, changes compatible with mucopolysaccharidosis (MPS) type VI. Diagnosis was confirmed by enzymatic immunohistochemical study, which reported arylsulfatase deficiency. Pharmacological management with Galsulfase was started, the progress of the characteristic signs, symptoms and complications caused by the disease were monitored afterwards.Key words: Mucopolysaccharidosis type VI, glycosaminoglycans, multiple dysostosis, Galsulfase.

Biografía del autor

Iván Hernández Ramírez, Universidad Cooperativa de Colombia
BSc, Esp. Epidemiol, MSc. Coordinador de investigaciones.
Ramiro José Benavides, Hospital Infantil Los Ángeles, Pasto
MD, Esp. Neuropediatría
Iván Osbaldo Yamá Noguera, Hospital Civil de Ipiales
MD.
Jennifer Martínez España, Universidad Cooperativa de Colombia, Pasto
Estudiante IX semestre Medicina
Carlos Hernando Rosero Erazo, Universidad Cooperativa de Colombia, Pasto
Estudiante VIII semestre Medicina

Citas

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Publicado
2012-09-09