Fetal type IV glycogen storage disease: Clinical, enzymatic, and genetic data of a pure muscular form with variable and early antenatal manifestations in the same family
- 8 November 2005
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 139A (2), 118-122
- https://doi.org/10.1002/ajmg.a.30945
Abstract
We report on a family of three consecutive fetuses affected by type IV glycogen storage disease (GSD IV). In all cases, cervical cystic hygroma was observed on the 12‐week‐ultrasound examination. During the second trimester, fetal hydrops developed in the first pregnancy whereas fetal akinesia appeared in the second pregnancy. The diagnosis was suggested by microscopic examination of fetal tissues showing characteristic inclusions exclusively in striated fibers, then confirmed by enzymatic studies on frozen muscle. Antenatal diagnosis was performed on the third and fourth pregnancies: cervical cystic hygroma and low glycogen branching enzyme (GBE) activity on chorionic villi sample (CVS) were detected in the third pregnancy whereas ultrasound findings were normal and GBE activity within normal range on CVS in the fourth pregnancy. Molecular analysis showed that the mother was heterozygous for a c.1471G > C mutation in exon 12, leading to the replacement of an alanine by a tyrosine at codon 491 (p.A491T); the father was heterozygous for a c.895G > T mutation in exon 7, leading to the creation of a stop codon at position 299 (p.G299X). GSD IV has to be considered in a context of cervical cystic hygroma with normal karyotype, particularly when second trimester hydrops or akinesia develop. Enzymatic analysis of GBE must be performed on CVS or amniotic cells to confirm the diagnosis. Characteristic intracellular inclusions are specific to the disease and should be recognized, even in macerated tissues after fetal death. Genetic analysis of the GBE gene may help to shed some light on the puzzling diversity of GSD IV phenotypes.Keywords
This publication has 19 references indexed in Scilit:
- Severe neonatal onset of glycogenosis type IV: Clinical and laboratory findings leading to diagnosis in two siblingsJournal of Inherited Metabolic Disease, 2004
- Fatal infantile neuromuscular presentation of glycogen storage disease type IVNeuromuscular Disorders, 2004
- Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.JCI Insight, 1996
- Clinical and laboratory findings in four patients with the non‐progressive hepatic form of type IV glycogen storage diseaseJournal of Inherited Metabolic Disease, 1995
- A Congenital Variant of Glycogenosis Type IVFetal and Pediatric Pathology, 1993
- Liver Transplantation for Type IV Glycogen Storage DiseaseNew England Journal of Medicine, 1991
- A new variant of type IV glycogenosis: Deficiency of branching enzyme activity without apparent progressive liver diseaseHepatology, 1988
- Polysaccharide (Amylopectin-like) Storage Myopathy Histochemical, Ultrastructural and Biochemical StudiesPublished by Springer Science and Business Media LLC ,1981
- Glycogenosis IV: A new cause of infantile hypotoniaThe Journal of Pediatrics, 1972
- Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis.Proceedings of the National Academy of Sciences of the United States of America, 1966