Child Neuropsychiatry Unit, Mother and Child Department, University-Hospital of Parma, Parma, Italy.
Child Neuropsychiatry Unit, Neuroscience Department, University of Parma, Parma, Italy.
Acta Biomed. 2020 Sep 7;91(3):e2020083. doi: 10.23750/abm.v91i3.8366.
We describe a 3 month-old female floppy infant with hypertrophic cardiomyopathy, serum enzyme levels, which were characterized by an aspartate aminotransferase level of 144 U/l, alanine transaminase 240 U/L and creatine kinase level of 543 U/l. On the basis of the clinical signs and laboratory results, acid α-glucosidase activity was determined from dried blood spots resulting lower than the normal range (0.2 mmol/L/h: normal reference range: 1,86-21,9 mmol/L/h) and leading to a diagnosis of infantile Pompe disease. She also showed multi-directional nystagmus. Refractive errors, ptosis and strabismus are described in infantile Pompe Disease, while nystagmus is rarely reported before. Therefore with this paper we highlight an atypical ocular symptom, whose uncertain pathogenesis, to be taken into consideration, because by now, with increasing survival with ERT, new phenotypes of Pompe disease are taking shape.
我们描述了一例 3 个月大的女性软瘫婴儿，患有肥厚型心肌病，血清酶水平特征为天冬氨酸转氨酶水平 144U/L，丙氨酸转氨酶 240U/L 和肌酸激酶水平 543U/L。根据临床症状和实验室结果，从干血斑中测定酸性α-葡萄糖苷酶活性，结果低于正常范围（0.2mmol/L/h：正常参考范围：1.86-21.9mmol/L/h），导致婴儿型庞贝病的诊断。她还表现出多向性眼球震颤。婴儿型庞贝病中描述了屈光不正、上睑下垂和斜视，而眼球震颤很少有报道。因此，通过本文，我们强调了一种不典型的眼部症状，其不确定的发病机制需要考虑，因为到目前为止，随着 ERT 的生存率不断提高，庞贝病的新表型正在形成。
