Neonatal presentation of lethal neuromuscular glycogen storage disease type IV

被引：0
作者：
L F Escobar
S Wagner
M Tucker
J Wareham
机构：
[1] Medical Genetics and Neurodevelopmental Pediatric Center-Peyton Manning Children Hospital,
[2] Section of Neonatology-St Vincent Women's Hospital,undefined
[3] Center for Prenatal Diagnosis-St Vincent Women's Hospital,undefined
来源：
Journal of Perinatology | 2012年 / 32卷
关键词：
glycogen storage disease; hypotonia; fetal akinesia; Andersen syndrome;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
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.
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页码：810 / 813
页数：3
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