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Cerebellar tumour-like aggregate of glycosaminoglycans in a MPS IIIB patient: a case report

C de Laurentis1, S Gasperini2, G Chiarello3

  • 1Neurosurgery, Università degli Studi di Milano Bicocca, School of Medicine, Monza, Italy.

Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery
|January 23, 2020
PubMed
Abstract

Insights

Mucopolysaccharidosis (MPS) IIIB, a rare lysosomal disorder, can present with a tumor-like cerebellar lesion. Surgical intervention led to significant clinical improvement in a pediatric patient, highlighting a previously unreported manifestation.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Mucopolysaccharidosis (MPS) IIIB is a lysosomal storage disorder caused by alpha-N-acetylglucosaminidase deficiency.
  • Heparan sulfate accumulation leads to multi-organ dysfunction and central nervous system (CNS) abnormalities.

Observation:

  • A 5-year-old girl with MPS IIIB presented with a cerebellar lesion exhibiting mass effect.
  • The lesion mimicked a neoplastic growth, necessitating surgical intervention.

Findings:

  • Pathological analysis confirmed the lesion displayed typical features of MPS IIIB.
  • Surgical removal of the lesion resulted in marked clinical improvement.

Implications:

  • This case suggests that tumor-like cerebellar lesions are a potential, previously unreported manifestation of MPS IIIB.
  • Early recognition and surgical treatment may significantly improve patient outcomes in such cases.
Keywords:
CNSCerebellumMucopolysaccharidosisNeuropathologyNeurosurgerySanfilippo diseaseTumour-like

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