Glycogen Storage Disease Type IV Diagnosed at Fetal Autopsy
| Autor: | Daniel C Butler, Angelina Phillips, W. Bailey Glen, Cynthia A. Schandl |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Genetic Markers Pathology medicine.medical_specialty Nonsense mutation Autopsy Pathology and Forensic Medicine 03 medical and health sciences chemistry.chemical_compound Glycogen Storage Disease Type IV 0302 clinical medicine Fatal Outcome Exome Sequencing Medicine Humans Glycogen storage disease type IV Exome sequencing Cause of death Sequence Deletion Fetus Glycogen business.industry Infant Newborn Glycogen Debranching Enzyme System General Medicine medicine.disease Microarray Analysis 030104 developmental biology chemistry Codon Nonsense 030220 oncology & carcinogenesis Pediatrics Perinatology and Child Health Etiology Female business |
| Zdroj: | Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. 23(4) |
| ISSN: | 1615-5742 |
| Popis: | Glycogen storage disease type IV (GSD IV; Andersen's disease) is a rare autosomal recessive disorder that results from defects in the GBE1 gene (3p12.2) and subsequent deficiencies of glycogen branching. We report a case of GSD IV diagnosed at autopsy in a 35 4/7 weeks gestational age female neonate that died shortly after birth. Multisystem blue, ground glass inclusions initially presumed artefactual were periodic acid-Schiff positive, diastase resistant. Chromosomal microarray analysis identified a deletion of exons 2 through 16 of the GBE1 gene and whole exome sequencing identified a nonsense mutation within exon 14, confirming the diagnosis of GSD IV. A strong index of suspicion was required determine GSD IV as the ultimate cause of death, illustrating the need for critical evaluation of postmortem artifact in the setting of fetal demise of unknown etiology and highlighting the role of postmortem molecular diagnostics in a subset of cases. |
| Databáze: | OpenAIRE |
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