Neonatal presentation of lethal neuromuscular glycogen storage disease type IV.

Abstract

A total of 11 types of glycogen storage disorders have been recognized with variable clinical presentations. Type IV, also known as Andersen disease, represents a rare subtype that can induce severe clinical findings early in life. We report on a patient with early fetal onset of symptoms with severe neuromuscular findings at birth. The pregnancy was further complicated by polyhydramnios and depressed fetal movement. At birth severe hypotonia was noticed requiring active resuscitation and then mechanical ventilation. His lack of expected course for hypoxic ischemic encephalopathy prompted genetic testing, including a muscle biopsy, which confirmed the diagnosis of glycogen storage disease IV (GSD IV). Mutation analysis of the glycogen branching enzyme 1 gene demonstrated a previously unrecognized mutation. We review recent information on early presentation of GSD IV with particular interest in the presentation of the neonatal lethal neuromuscular form of this rare disorder.

• Authors: L F Escobar, S Wagner, M Tucker, J Wareham
• Journal: Journal of perinatology : official journal of the California Perinatal Association (J Perinatol) Vol. 32 Issue 10 Pg. 810-3 (Oct 2012) ISSN: 1476-5543 [Electronic] United States
• PMID: 23014386 (Publication Type: Case Reports, Journal Article, Review)

Chemical References

• 1,4-alpha-Glucan Branching Enzyme

Topics

• 1,4-alpha-Glucan Branching Enzyme (genetics)
• DNA Mutational Analysis
• Female
• Genetic Testing
• Glycogen Storage Disease Type IV (diagnosis, genetics)
• Humans
• Infant, Newborn
• Mutation
• Neuromuscular Diseases (diagnosis, genetics)
• Pregnancy
• Pregnancy Complications (diagnosis, genetics)