Scheie Syndrome Diagnosis in Early Childhood: Case Study

Background. Diagnosis of the mild form of mucopolysaccharidosis type I (MPS I) — Scheie syndrome — can be problematic due to its non-specific manifestations. However, its early detection is crucial for the timely therapy initiation and for improving patients’ quality of life. Case presentation. Boy P. with unremarkable medical history was observed by neurologist due to muscle hypotension from the

first months of life. The child had decrease in body weight after implementation of supplemental feeding at the age of 6 months, thus, they have administered to pediatrician. Further examination has been recommended. He was re-consulted by neurologist due to muscle hypotension, delayed motor development was noted. Enzyme diagnosis (dry blood spots) was performed according to geneticist recommendation: significant decrease in alpha-L-iduronidase activity was detected — up to 0.02 μmol/L (reference values 1.0–25 μmol/L). One-dimensional electrophoresis of urine glycosaminoglycans has revealed dermatan sulfate, heparan sulfate, chondroitin sulfate excretion. The analysis of exon 2 in the IDUA gene was performed via direct automatic sequencing. Previously described pathogenic variant c.208C>T (p.Gln70Term) inherited from child’s father and previously described variant c.250G>A (p.Gly84Ser) inherited from the mother were revealed in compound-heterozygous state. Ultrasound examination of the abdominal organs has revealed gallbladder deformation, echocardiography — paravalvular regurgitation on the mitral and tricuspid valves. Minimal changes in hands, hip joints, and cervical spine were noted according to imaging studies. Conclusion. Early diagnosis of MPS I is crucial for timely therapy initiation and patients’ quality of life improvement. In this regard and considering wide range of symptoms in mild forms of MPS I, it is necessary to increase the awareness of medical workers about this pathology. Moreover, we should introduce a multi-level approach to diagnosis, including both clinical and laboratory research methods.

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