OBJECTIVE: Mucopolysaccharidosis (MPS) type II or Hunter syndrome is an X-linked recessive rare disease characterized by deficiency of iduronate-2-sulfatase (I2S) lysosomal enzyme which important in degradation of glycosaminoglycans (GAGs). Accumulation of GAGs leads to pathological changes in multiple body systems. Estimated incidence of MPS II is 0,3-0,71 per 100.000 live births worldwide. Patient typically normal at birth and showing clinical manifestation gradually during course of the disease, disrupting normal growth and development. This report is describing different progression of 2 MPS II cases in Department of Child Health, Hasan Sadikin Hospital Bandung, West Java, Indonesia.
CASE: We present two cases of mucopolysaccharidosis type II, all are 8 years old boys. The first patient is a student of disabled school while the other have severe handicap, laying in bed with full support from caregiver everyday. The clinical manifestation were similar but had different onset, that are regression of growth and development, intellectual disability, coarse facies, macrocephaly, skeletal dysplasia, cardiology problems, hepatosplenomegaly, and abdominal hernia. Patient with more severe clinical sign (2nd case) showed lower I2S activity (I2S 0,04 uM/hr vs 0,14 uM/hr, normal value ? 4,45 uM/hr) based on laboratory assay in National Taiwan University Hospital. The 2nd patient had a history of frequent hospitalization, however no clinicans recognized the manifestation until the patient consulted to Nutrition and Metabolic Disease Division as he got marasmic kwashiorkor for nutrition management.
CONCLUSION: The severity of the diseases may have correlation with the activity of I2S. A common pitfall undiagnosed MPS II is failure to link the clinical manifestation, lack of knowledge about the diseases, and difficult acces to laboratory examination.