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Mucopolysaccharidosis type IV: report of 5 cases of Morquio Syndrome

Jorge Alejandro Cadena Arteaga1, Fabricio Andres Lasso Andrade2, Denny Marcela Achicanoy Puchana3

  • 1Especialista en Radiología. Universidad del Valle. Cali, Valle del Cauca- Colombia.

Radiology Case Reports
|December 20, 2021
PubMed

Insights

Mucopolysaccharidosis type IV (Morquio Syndrome) is a rare genetic disorder affecting bone development. This study details five cases, highlighting the varied clinical presentations of this lysosomal storage disease.

Area of Science:

  • Genetics
  • Metabolic Disorders
  • Skeletal Dysplasias

Background:

  • Mucopolysaccharidosis type IV (Morquio Syndrome) is an autosomal recessive lysosomal storage disease.
  • It affects males and females equally, characterized by progressive skeletal dysplasia.

Observation:

  • A series of five patients from two families with confirmed Mucopolysaccharidosis type IV were studied.
  • The patients exhibited diverse clinical manifestations and varying degrees of disease severity.

Findings:

  • The study documented the wide spectrum of skeletal abnormalities associated with Mucopolysaccharidosis type IV.
  • Key features included short stature, trunk shortening, kyphoscoliosis, and cervical spine instability.

Implications:

  • Understanding the variable expressivity is crucial for accurate diagnosis and management.
  • Symptomatic treatment, including enzyme replacement therapy, remains the cornerstone of care for patients with Morquio Syndrome.
Keywords:
GlycosaminoglycansMorquio syndromeMucopolysaccharidosisShort stature

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