"Felipe Guevara Rojas" Hospital, Pediatrics Service, University of Oriente, El Tigre-Anzoátegui, Venezuela.
"Felipe Guevara Rojas" Hospital, Epilepsy and Encephalography Unit, El Tigre-Anzoátegui, Venezuela.
Neuromuscul Disord. 2019 Mar;29(3):192-197. doi: 10.1016/j.nmd.2018.11.013. Epub 2018 Dec 4.
Pompe disease is an autosomal recessive disorder caused by a deficiency of acid α-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.
庞贝病是一种常染色体隐性遗传疾病，由酸性α-葡萄糖苷酶缺乏引起。除了伴有心脏受累的严重婴儿型外，晚发型变异还可影响较大儿童、青少年（＞1 岁）或成人。青少年型（晚发型的一个亚组）庞贝病患者通常没有心脏改变，例如肥厚性心肌病，且由于其临床表现类似于多种其他神经肌肉疾病，因此诊断通常较为困难。及时准确的诊断需要高度的临床怀疑。我们描述了 3 例具有青少年起病庞贝病的有趣病例，这些患者具有一些不常见的临床特征，例如骨骼改变和发育迟缓，并描述了一种新的基因突变。青少年起病庞贝病可能伴有不常见的临床症状，由于整体表现类似于其他代谢疾病，这可能会延迟庞贝病的诊断。
