Introduction
Mucopolysaccharidosis III (MPS III) is a group of five autosomal recessive lysosomal storage disorders leading to tissue accumulation of heparan sulfate. In the USA estimated incidence types combined is 1 in 70,000 newborns. MPS III is a progressive disorder, characterized by mental deterioration and behavioral difficulties including mental retardation, hyperactivity, sleep disorders, coarse facial features.
Patients and Methods
Retrospective questionnaire study, families were interviewed using a detailed self-made questionnaire that covered different aspects such as neurological, behavioral, immunological, congenital malformations, etc. Children diagnosed with MPS III using biochemical studies and\or a known mutation were included in the study, while patients with an additional neurologic disease were excluded. We collected questionnaires from eight patients belonging to four families, diagnosed with MPS III.
Results
Average age of diagnosis (first sibling) was 6.2 years. The most common early clinical manifestations leading to parents` suspicion of illness were speech delay and coarse facial features. All children were reported to have sleep disorders. Global Developmental delay, recurrent infections, hyperactivity and decreased hearing were observed in all diagnosed children.
Conclusions
Time from first medical inquiry until diagnosis was over 2.5 years in average, consistent with the delay in diagnosis described in the literature. MPS III children frequently undergo ENT surgeries early in life, thus we suggest that a high clinical suspicion is warranted, also among primary care physicians for early diagnosis and family planning (prenatal diagnosis – Preimplantation genetic diagnosis). We hope that in the near future this group of patients will benefit from specific therapy.
