source: Radiology case reports

year: 2022

authors: Cadena Arteaga JA,Lasso Andrade FA,Achicanoy Puchana DM,Achicanoy Puchana DF,Caicedo Morillo GN,Medina Bravo PA,Juez Neira WF,Vanegas Bastidas CR,Montoya Ríos DC,Vasquez Correa KJ,Suárez Cuéllar LC,Osorio Segura LJ

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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