Najwa Imad Nadia
Mucopolysaccharidosis (MPS) type VI, or Maroteaux-Lamy syndrome, is an autosomal recessive disorder of lysosomal storage caused by a deficiency of the enzyme arylsulfatase B (ASB), involved in the degradation of the glycoaminoglycans (GAG) dermatan sulfate and chondroitin-4-sulfate, leading to a series of multisystem clinical manifestations. The aim of the study is to identify the clinical, biological and therapeutic options of this condition. We described of 3 cases of MPS VI followed at the mother and child hospital of the Mohammed VI University Hospital of Marrakech over a period of 5 years. The average age of our patients was 8.3 years, with a sex ratio of 0.5; the 3 cases came from a related marriage. They consulted at an average age of 4 years, for a statural and weight delay, a spinal deformity or for a facial dysmorphism. We noted a clinical polymorphism with cardiac, abdominal, osteoarticular or ophthalmological involvement. Urine GAG assay showed increased values with collapsed levels of aryl sulfatase in all patients. Galsulfase treatment is still not available in Morocco, the management was based on symptomatic medical, surgical and functional treatment. Early initiation of enzyme replacement therapy ensures a better development with a better quality of life but also avoids the complications caused by this pathology
Published Date: 2021-11-29;
