Mucopolysaccharidosis type IV: report of 5 cases of Morquio Syndrome

Mucopolysaccharidosis type IV or Morquio Syndrome, is a lysosomal deposit disease, of autosomal recessive inheritance with a similar incidence in men and women. The clinical picture is of variable expressiveness, its phenotype is characterized by skeletal dysplasia that includes neck and short trunk...

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Detalles Bibliográficos
Autores principales: Cadena Arteaga, Jorge Alejandro, Lasso Andrade, Fabricio Andres, Achicanoy Puchana, Denny Marcela, Achicanoy Puchana, Diana Fernanda, Caicedo Morillo, Gina Natalia, Medina Bravo, Paola Andrea, Juez Neira, William Fernando, Vanegas Bastidas, Cristian Ricardo, Montoya Ríos, Diana Carolina, Vasquez Correa, Karen Julieth, Suárez Cuéllar, Laura Catalina, Osorio Segura, Lady Johana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8649122/
https://www.ncbi.nlm.nih.gov/pubmed/34925671
http://dx.doi.org/10.1016/j.radcr.2021.11.012
Descripción
Sumario:Mucopolysaccharidosis type IV or Morquio Syndrome, is a lysosomal deposit disease, of autosomal recessive inheritance with a similar incidence in men and women. The clinical picture is of variable expressiveness, its phenotype is characterized by skeletal dysplasia that includes neck and short trunk, short stature, keel thorax, kyphosis, scoliosis, genus valgus, flat foot, coxa valga, gait disorders, instability of the cervical spine and wedge or ovoid vertebrae. The treatment is symptomatic, with enzyme replacement. We present a series of 5 cases, the product of 2 couples, with a confirmed diagnosis of Mucopolysaccharidosis type IV, and different clinical presentation.

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