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Early and late brain resonance findings of two siblings with Hunter syndrome
J J Silvestre-Avendaño1,2,3, D E Morales-Vásquez2, J R Muñoz-Zuñiga4,2
1Universidad Nacional de Colombia, Bogotá DC, Colombia.
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.
Insights
Mucopolysaccharidosis type II (MPS II), a genetic disorder, can manifest differently in siblings. Brain MRI is a crucial early diagnostic tool for MPS II, identifying brain changes before other symptoms appear.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Mucopolysaccharidosis type II (MPS II) is an X-linked lysosomal storage disease.
- It results from a deficiency in the enzyme iduronate-2-sulfatase (IDS).
- MPS II presents with a broad spectrum of clinical manifestations.
Observation:
- Two siblings with MPS II, sharing the same genetic mutation but of different paternal origin, were studied.
- Case 1 was diagnosed at 5 years old, while Case 2 was diagnosed at 8 months old.
- Brain MRI revealed distinct findings between the siblings.
Findings:
- Case 1 showed classic age-appropriate MRI findings.
- Case 2 exhibited early, significant MRI abnormalities, including dilated perivascular spaces (up to 9.5 mm) and magna megacisterna.
- These early findings in Case 2 occurred without neurological manifestations.
Implications:
- Brain compromise in MPS II can be evident before one year of age and prior to hepatosplenomegaly.
- Brain magnetic resonance imaging (MRI) serves as a valuable early diagnostic tool for MPS II.
- Early diagnosis through MRI enables timely intervention and management of MPS II.
