Skeletal alterations, developmental delay and new mutations in juvenile-onset Pompe disease
Skeletal alterations, developmental delay and new mutations in juvenile-onset Pompe disease
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DOI：
10.1016/j.nmd.2018.11.013
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发表时间：
2019-03-01
影响因子：
2.8
通讯作者：
Cauli, Omar
中科院分区：
文献类型：
--
作者：
Guevara-Campos, Jose;Gonzalez-Guevara, Lucia;Cauli, Omar
庞贝氏症是一种常染色体隐性遗传病，由酸性α-葡萄糖苷酶缺乏引起。除了严重的婴儿型与心脏受累，迟发性变异可以影响年龄较大的儿童，青少年（年龄>1岁）或成人。幼年型庞贝氏症（迟发型的一个亚组）患者通常没有心脏改变，例如肥厚型心肌病，诊断通常很困难，因为它在临床上类似于无数其他神经肌肉疾病。高水平的临床怀疑是必要的，及时和准确的诊断。我们描述了3例有趣的青少年型庞贝氏症患者，他们表现出一些不常见的临床特征，如骨骼改变和发育迟缓，并描述了一种新的遗传变异。青少年型庞贝氏症可能伴有不常见的临床体征，由于与其他代谢紊乱相似的整体图像，可能延迟庞贝氏症的诊断。(C)2018爱思唯尔B. V.保留所有权利。
Pompe disease is an autosomal recessive disorder caused by a deficiency of acid a-glucosidase. In addition to the severe infantile form with cardiac involvement, late-onset variants can affect older children, adolescents (aged >1 year old) or adults. Patients with juvenile (a subgroup of late-onset type) Pompe disease typically do not have cardiac alterations e.g. hypertrophic cardiomyopathy, and the diagnosis is often difficult because it can clinically resemble myriad other neuromuscular disorders. A high level of clinical suspicion is necessary for a timely and accurate diagnosis. We describe 3 interesting cases of patients with juvenile-onset Pompe disease who presented some uncommon clinical features e.g. skeletal alterations and developmental delay, and describe a new genetic variant. Juvenile-onset Pompe disease may be accompanied by uncommon clinical signs that could delay the diagnosis of Pompe disease due to the global pictures resembling other metabolic disorders. (C) 2018 Elsevier B.V. All rights reserved.