Institute of Neuropathology, Justus Liebig University Giessen, Arndtstrasse 16, 35392 Giessen, Germany.
Institute of Neuropathology, Justus Liebig University Giessen, Arndtstrasse 16, 35392 Giessen, Germany.
Neuromuscul Disord. 2019 Jun;29(6):477-482. doi: 10.1016/j.nmd.2019.03.004. Epub 2019 Mar 14.
Enzyme replacement therapy in infantile onset Pompe disease has led to a new phenotype with features not known in the pre-enzyme replacement therapy era. We investigated the origin of a rapidly emerging and severe weakness of the foot dorsiflexors in a 7-year-old boy after 6.5 years of enzyme replacement therapy. Electroneurography yielded normal findings except low compound muscle action potentials of the extensor digitorum brevis muscles after stimulation of the peroneal nerves. Electromyography of the tibial muscle demonstrated a myopathic pattern. Tibial muscle, sural nerve, and skin biopsy showed a myopathy with empty and glycogen containing vacuoles, a mild loss of myelinated and unmyelinated axons, and a moderately reduced intraepidermal nerve fiber density. These findings provide evidence for a severe distal muscle involvement and a mild sensory neuropathy evolving during the course of disease after long-term enzyme replacement therapy, thereby expanding the new emerging phenotype of infantile onset Pompe disease.
婴儿期发病庞贝病的酶替代疗法导致了一种新的表型，具有在酶替代疗法前时代未知的特征。我们研究了一名 7 岁男孩在接受酶替代疗法 6.5 年后，足部背屈肌迅速出现并严重无力的原因。神经电图除了在刺激腓总神经后，趾短伸肌的复合肌肉动作电位较低外，结果正常。胫骨肌的肌电图显示出肌病模式。胫骨肌、腓肠神经和皮肤活检显示肌病，有空泡和糖原蓄积空泡，有髓和无髓轴突轻度丢失，表皮内神经纤维密度中度降低。这些发现为长期酶替代治疗后疾病过程中出现的严重远端肌肉受累和轻度感觉神经病提供了证据，从而扩展了婴儿期发病庞贝病的新出现表型。
