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Cerebellar tumour-like aggregate of glycosaminoglycans in a MPS IIIB patient: a case report
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Cerebellar tumour-like aggregate of glycosaminoglycans in a MPS IIIB patient: a case report
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Journal Article
Cerebellar tumour-like aggregate of glycosaminoglycans in a MPS IIIB patient: a case report
2020
Overview
Introduction
Mucopolysaccharidosis (MPS) IIIB is a lysosomal disorder in which a deficiency in α-N-acetylglucosaminidase impairs the degradation of heparan sulphate, which accumulates in tissues causing multiple organs dysfunction. This disease is associated with significant central nervous system (CNS) abnormalities, but a presentation with a tumour-like lesion has never been reported so far.
Clinical presentation
The present report describes the case of a 5-year-old girl suffering from MPS IIIB who developed a cerebellar lesion with evident mass effect. She underwent surgery with a subsequent notable improvement of her clinical picture. Surprisingly, the pathological analysis revealed the lesion to have the typical MPS features.
Conclusion
This case would describe a neglected possible presentation of MPS IIIB with a lesion mimicking a neoplasm, which could even be successfully treated with surgery.
Publisher
Springer Berlin Heidelberg,Springer Nature B.V
Subject
