Early and late brain resonance findings of two siblings with Hunter syndrome.

INTRODUCTION

Mucopolysaccharidosis type II (MPS II) is a lysosomal disease caused by deficiency of the enzyme iduronate-2-sulfatase (IDS), linked to the X chromosome, producing a wide spectrum of clinical manifestations.

CASE REPORT: We present the case of two siblings with MPS II of different paternal origin with the same genetic mutation; the age at the time of diagnosis was 5 years of age (case 1) and 8 months of age (case 2). These brethren present different findings in brain magnetic resonance imaging (MRI) with each other, case 1 presented classic findings for age, case 2 presented multiple early findings, such as dilated perivascular spaces up to 9.5 mm, magna megacisterna, among others; without neurological manifestations.

CONCLUSION

This patient's brain compromise was presented before the year of age and prior to hepatosplenomegaly, thus, MRI becomes an early diagnostic tool for MPS II.