Document Detail

Neonatal presentation of lethal neuromuscular glycogen storage disease type IV.
MedLine Citation:
PMID:  23014386     Owner:  NLM     Status:  In-Data-Review    
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.
L F Escobar; S Wagner; M Tucker; J Wareham
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of perinatology : official journal of the California Perinatal Association     Volume:  32     ISSN:  1476-5543     ISO Abbreviation:  J Perinatol     Publication Date:  2012 Oct 
Date Detail:
Created Date:  2012-09-27     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8501884     Medline TA:  J Perinatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  810-3     Citation Subset:  IM    
1] Medical Genetics and Neurodevelopmental Pediatric Center-Peyton Manning Children Hospital, Indianapolis, IN, USA [2] Section of Neonatology-St Vincent Women's Hospital, Indianapolis, IN, USA.
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