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First Report on Fetal Cerebral Polyglucosan Bodies in Mucopolysaccharidosis Type VII

Hazim Kadhim1, Valérie Segers2,3, Catheline Vilain4

  • 1Neuropathology Unit, Department of Anatomic Pathology and Reference Center for Neuromuscular Pathology, Brugmann University Hospital-Children's Hospital (CHU Brugmann-HUDERF), Université Libre de Bruxelles (ULB), Brussels, Belgium.

Case Reports in Pediatrics
|August 4, 2017
PubMed

Insights

This study details the first documented case of polyglucosan bodies in the fetal brain of a baby with Sly disease (mucopolysaccharidosis type VII). This rare finding offers new insights into fetal brain development in lysosomal storage diseases.

Area of Science:

  • Neuropathology
  • Lysosomal Storage Diseases
  • Fetal Development

Background:

  • Sly disease (mucopolysaccharidosis type VII) is a rare lysosomal storage disorder.
  • Nonimmune hydrops fetalis is a severe condition often associated with fetal metabolic disorders.
  • Polyglucosan bodies (PGBs) are abnormal accumulations typically seen in specific glycogenoses.

Observation:

  • A 25-week female fetus presented with nonimmune hydrops fetalis and Sly disease.
  • Vacuolated neurons and abundant PGBs were observed in the fetal brain.
  • Lysosomal beta-glucuronidase deficiency and a GUSB gene variant confirmed MPS-VII.

Findings:

  • This is the first report of PGB accumulation in the fetal brain associated with Sly disease.
  • The presence of PGBs in the fetal brain is highly unusual for MPS-VII.
  • These CNS inclusions were detected at a very early developmental stage.

Implications:

  • This finding expands the known spectrum of neuropathological features in Sly disease.
  • It suggests a potential, previously unrecognized link between Sly disease and PGB deposition.
  • Highlights the importance of early detection and understanding of rare fetal metabolic disorders.

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