Case of Neonatal Fatality from Neuromuscular Variant of Glycogen Storage Disease Type IV
| Autor: | Zhongxin Yu, Abhishek Makkar, Michelle Polan, Rufei Lu, Tavleen Sandhu |
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| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
medicine.medical_specialty
Polyhydramnios Cirrhosis Glycogen biology business.industry medicine.disease Compound heterozygosity Hypotonia Article chemistry.chemical_compound Endocrinology chemistry Internal medicine medicine Glycogen branching enzyme biology.protein Myocyte medicine.symptom Glycogen storage disease type IV business |
| Zdroj: | JIMD Reports ISBN: 9783662586464 |
| Popis: | Glycogen storage disease type IV (GSD-IV), or Andersen disease, is a rare autosomal recessive disorder that results from the deficiency of glycogen branching enzyme (GBE). This in turn results in accumulation of abnormal glycogen molecules that have longer outer chains and fewer branch points. GSD-IV manifests in a wide spectrum, with variable phenotypes depending on the degree and type of tissues in which this abnormal glycogen accumulates. Typically, GSD-IV presents with rapidly progressive liver cirrhosis and death in early childhood. However, there is a severe congenital neuromuscular variant of GSD-IV that has been reported in the literature, with fewer than 20 patient cases thus far. We report an unusual case of GSD-IV neuromuscular variant in a late preterm female infant who was born to non-consanguineous healthy parents with previously healthy children. Prenatally, our patient was found to have decreased fetal movement and polyhydramnios warranting an early delivery. Postnatally, she had severe hypotonia and respiratory failure, with no hepatic or cardiac involvement. Extensive metabolic and neurological workup revealed no abnormalities. However, molecular analysis by whole-exome sequencing revealed two pathogenic variants in the GBE1 gene. Our patient was thus a compound heterozygote of the two pathogenic variants: one of these was inherited from the mother [p.L490WfsX5 (c.1468delC)], and the other pathogenic variant was a de novo change [p.E449X (c.1245G>T)]. As expected in GSD-IV, diffuse intracytoplasmic periodic acid-Schiff-positive, diastase-resistant inclusions were found in the cardiac myocytes, hepatocytes, and skeletal muscle fibers of our patient. |
| Databáze: | OpenAIRE |
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