Abstract
BackgroundMucopolysaccharidosis relates to a group of seven prevalent types of disorders that are categorized on the basis of specific enzyme deficiency or the major symptoms, or both. A typical clinical presentation includes such symptoms and characteristics as short stature, facial dysmorphism, skeletal deformities, pulmonary dysfunction, joint stiffness and contractures, myocardial hypertrophy, neurological symptoms, and mental retardation.Case presentationThe purpose of this study was to perform a detailed anthropometric assessment in four cases of children with mucopolysaccharidosis (MPS) I and II types aged from 4 to 13 years from the Podkarpacie Province (south-eastern Poland). Anthropometric assessment included several parameters and indices related to body structure. All examined patients are characterized by severely disordered physical growth in comparison with the Polish norms presented in the reference charts.ConclusionsExamined children with MPS are characterized by especially low values relating to longitudinal and transversal parameters of body build. Anthropometric data could be used in early diagnosis of MPS and assessment of results of its treatment.
Highlights
Mucopolysaccharidosis relates to a group of seven prevalent types of disorders that are categorized on the basis of specific enzyme deficiency or the major symptoms, or both
Examined children with MPS are characterized by especially low values relating to longitudinal and transversal parameters of body build
The term mucopolysaccharidosis (MPS) relates to a group of autosomal recessive metabolic disorders caused by the absence or dysfunction of the lysosomal enzymes involved in the degradation of glycosaminoglycals (GAGs)
Summary
1. On the basis of anthropometric measurement and various indexes observed it can be concluded that examined children with MPS are characterized by especially low values relating to longitudinal and transversal features of body build. 2. MPS is a disorder which should be taken into consideration during diagnosis of causes of short stature. 3. Some specificity in the formation of body proportionality found in children with MPS could be used in the early diagnosis of this rare disorder. 4. The data presented in Table 2 and final conclusions should not be generalized to all children with MPS but relate to these particular patients
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