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Case Reports in Pediatrics
Volume 2017, Article ID 9523427, 6 pages
https://doi.org/10.1155/2017/9523427
Case Report

First Report on Fetal Cerebral Polyglucosan Bodies in Mucopolysaccharidosis Type VII

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
2Unit of Fetal Pathology, CHU Brugmann-HUDERF, ULB, Brussels, Belgium
3Department of Anatomic Pathology, Erasme Academic Hospital, ULB, Brussels, Belgium
4Center for Medical Genetics, Hôpital Erasme, Université Libre de Bruxelles (ULB), Brussels, Belgium

Correspondence should be addressed to Hazim Kadhim; eb.nnamgurb-uhc@mihdak.mizah

Received 3 March 2017; Revised 16 May 2017; Accepted 12 June 2017; Published 10 July 2017

Academic Editor: Junji Takaya

Copyright © 2017 Hazim Kadhim et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

We report on the detection of discordant inclusions in the brain of a 25-week female fetus with a very rare lysosomal storage disease, namely, Sly disease (mucopolysaccharidosis (MPS) type VII), presenting with nonimmune hydrops fetalis. Besides vacuolated neurons, we found abundant deposition of polyglucosan bodies (PGBs) in the developing brain of this fetus in whom MPS-VII was corroborated by lysosomal beta-glucuronidase-deficiency detected in fetal blood and fetal skin-fibroblasts and by the presence of a heterozygous pathogenic variant in the GUSB gene in the mother. Fetal/neonatal metabolic disorders with PGB-deposition are extremely rare (particularly in relation to CNS involvement) and include almost exclusively subtypes of glycogenosis (types IV and VII). The accumulation of PGBs (particularly in the fetal brain) has so far not been depicted in Sly disease. This is the first report on such “aberrant” association. Besides, the detection of these CNS inclusions at such an early developmental stage is remarkably unique.