1887

n SA Journal of Radiology - Cribriform pattern in brain MRI : a diagnostic clue for mucopolysaccharidoses : case report

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Abstract

Mucopolysaccharidoses (MPS) represents a heterogeneous group of inherited lysosomal storage disorders characterised by defective degradation of long-chain complex carbohydrates called glycosoaminoglycans (GAGs). To date, 11 distinct types of MPS have been described, each as a result of deficient enzymatic activity of specific lysosomal hydrolase. The most common types are Hurler and Hunter syndromes. We report a case of a child presenting with macrocephaly, clinically suspected to be due to hydrocephalus. An MRI (3 Tesla) brain study demonstrated the cribriform pattern in the brain caused by dilated perivascular spaces, which is a diagnostic clue for the presence of MPS.

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/content/m_sajr/17/4/EJC145995
2013-11-01
2016-12-09
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