First Report on Fetal Cerebral Polyglucosan Bodies in Mucopolysaccharidosis Type VII
Joint Authors
Kadhim, Hazim
Segers, Valérie
Vilain, Catheline
Désir, Julie
D’Haene, Nicky
Source
Issue
Vol. 2017, Issue 2017 (31 Dec. 2017), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2017-07-10
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Kadhim, Hazim& Segers, Valérie& Vilain, Catheline& Désir, Julie& D’Haene, Nicky. 2017. First Report on Fetal Cerebral Polyglucosan Bodies in Mucopolysaccharidosis Type VII. Case Reports in Pediatrics،Vol. 2017, no. 2017, pp.1-6.
https://search.emarefa.net/detail/BIM-1149519
Modern Language Association (MLA)
Kadhim, Hazim…[et al.]. First Report on Fetal Cerebral Polyglucosan Bodies in Mucopolysaccharidosis Type VII. Case Reports in Pediatrics No. 2017 (2017), pp.1-6.
https://search.emarefa.net/detail/BIM-1149519
American Medical Association (AMA)
Kadhim, Hazim& Segers, Valérie& Vilain, Catheline& Désir, Julie& D’Haene, Nicky. First Report on Fetal Cerebral Polyglucosan Bodies in Mucopolysaccharidosis Type VII. Case Reports in Pediatrics. 2017. Vol. 2017, no. 2017, pp.1-6.
https://search.emarefa.net/detail/BIM-1149519
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1149519