Alterações radiológicas em pacientes com mucopolissacaridose tipo IV A (síndrome de morquio A).

Abstract

Morquio syndrome type A or Mucopolysaccharidosis type IV A (MPSIVA) is a rare autosomal recessive disorder characterized by mutation of the gene responsible for encoding the lysosomal enzyme N-acetylgalactosamine-6-sulfatase (GALNS), leading to the accumulation of glycosaminoglycans (GAG's) keratan (QS) and chondroitin-6-sulphate (C6S), with consequent cellular dysfunction multisystemic. Skeletal manifestations are the earliest and most evident in MPSIVA. In order to study the radiological manifestations of the syndrome, 24 patients were investigated, with a mean age of 24.7 years and a diagnosis of MPSIVA proven by enzyme deficiency. The prevalence of findings radiological findings of the various body sections was analyzed by age group and by gender. The final radiological report of each patient was the result of the analysis of all radiographs taken at different ages. On all radiographs evaluated, there was the presence of at least one finding characteristic of MPSIVA, including in younger patients in the pediatric age group. there was greater prevalence of radiological alterations in the age group above 18 years, such as expected for a deposit disease and in a sample with greater representation in that age group. Although for some body sections there has been a higher prevalence in one of the genders, the representativeness of the sample by body section by gender prevents a statistical inference. There is not data in the literature that allow comparison by gender and with all sections bodies analyzed. The few studies that made it possible to compare the prevalence isolated from some radiological findings provided lower prevalences in regarding the present study. This fact can be explained by the lower age range of patients in the literature in relation to the sample of the present study (66% over 18 years), which is in line with what is expected in the evolution of a progressive disease. The present study depicts the natural history of radiological changes in MPSIVA, confirms that radiological changes are frequent regardless of age group and which are more expressive with advancing age. Knowledge of changes radiological findings in MPSIVA and its evolution may provide a more early onset of this rare syndrome, the result of enzymatic replacement treatment depends on how early it starts.