Evaluation of Demographic and Clinical Characteristics of Patients with Mucopolysaccharidosis
Journal Title: The Journal of Pediatric Research - Year 2017, Vol 4, Issue 2
Abstract
Aim: Mucopolysaccharidoses (MPSs) are a group of lysosomal storage disorders caused by the deficiency of spesific lysosomal enzymes required to break down glycosaminoglycans. MPSs should be suspected in a child with coarse facial features, organomegaly, and bone disease (dysostosis multiplex), with central nervous system abnormalities. Early diagnosis and treatment can improve outcomes in MPS. The aim of this study was to evaluate the demographic characteristics and clinical findings of our MPS patients. Materials and Methods: This is a retrospective study which included 27 MPS patients who were diagnosed and treated in our center. Results: The mean age of the group was 112.3±52.5 months (36-196 months); the mean onset age of symptoms was 40.8±30.6 months (4-112 months), and the mean time from symptom onset to diagnosis was 16.3±21.4 months (0-80 months). MPS subgroups were Type III in 13 (48%) patients, Type II in seven (26%), Type VI in four (15%), Type I in two (7%) patients and Type IV in one patient. Nine (33.3%) patients received enzyme replacement therapy (ERT). The mean duration of ERT was 31.3±21.5 months (9-67 months). Conclusion: MPS Type III was found to be the most common subgroup in our center. We can speculate that the mean time from symptom onset to diagnosis was found too long for MPS in which early diagnosis improves the prognosis. Increasing awareness of the disease in physicians encountering these patients in different clinics will be an important factor in the early diagnosis of the disease.
Authors and Affiliations
Pelin Teke Kısa, Engin Köse, Merve Ateşoğlu, Nur Arslan
Keywords
Related Articles
- EP ID EP243477
- DOI 10.4274/jpr.15870
- Views 163
- Downloads 0
Turkish Validity Reliability of the Pediatric Peripheral Intravenous Infiltration Scale and Its Adaptation to Newborns
Aim: The aim of this study is to determine the Turkish validity reliability and newborns’ adaptation to Pediatric Peripheral Intravenous Infiltration Scale. Materials and Methods: This study is methodological and was con...
Evaluation of the Frequency of Obesity and Associated Factors in Children of Obese and Overweight Mothers
Aim: The mother is an important determinant of the nutrition of her children. The aim of this study is to evaluate the relationship between obese or overweight mothers, their socio-demographic status and appetite on the...
Treatment and Follow-up in a Case with Diazoxide Treatment-Resistant Hyperinsulinemic Hypoglycaemia
Hyperinsulinemic hypoglycemia (HH) is the most common reason for persistent and recurrent hypoglycemia in the neonatal and infancy periods. We presented a case diagnosed with HH on the first day of life and who underwent...
A Migrated-mesenteric Lymphangioma: An Unusual Case of Intrabdominal Cystic Lesion in a New-born
Abdominal lymphangioma is a rare presentation of abdominal cystic lesions. They generally arise from small bowel mesentery. Migration of abdominal masses is an uncommon entity and usually occurs due to gossypiboma. There...
Can Temporomandibular Joint Disorders Be Diagnosed Beforehand by Assessment of Postural Irregularities?
Aim: In many studies, the relationship between postural status and temporomandibular disorders (TMD) have been investigated, however there is no consensus on this regard. The aim of this study was to investigate the rela...