Department of Neurology, Shandong Provincial Hospital Affiliated to Shandong University, Jinan City, China.
Department of Neurology, Shandong Provincial Hospital Affiliated to Shandong University, Jinan City, China.
Neuromuscul Disord. 2020 Jul;30(7):562-565. doi: 10.1016/j.nmd.2020.06.006. Epub 2020 Jun 12.
A 25-year-old male patient presented with periodic paralysis that increased in severity and frequency with age, accompanied with muscle pain and significantly elevated creatine kinase (CK) levels. Initial clinical and genetic examination confirmed Andersen-Tawil syndrome. Although his father carried the same genetic mutation (p.G300A), he experienced minor and infrequent attacks of paralysis. A change in the patient's symptoms, such as accompanying pain, contracture, and significant CK elevation, lead to a reconsideration of the diagnosis. A muscle biopsy of the biceps brachii in the patient revealed glycogen storage, but no tubular aggregates. Analysis of the phosphorylase kinase regulatory subunit alpha 1 (PHKA1) gene revealed a pathogenic mutation (p.C1082X), indicating glycogen storage disease type Ⅸd. The case demonstrates that co-occurrence of glycogen storage disease type Ⅸd may prolong attacks of muscle weakness, and cause serious muscle pain in patients with Andersen-Tawil syndrome.
一位 25 岁男性患者出现周期性瘫痪，随着年龄的增长，病情逐渐加重且愈发频繁，同时伴有肌肉疼痛和肌酸激酶（CK）水平显著升高。初步临床和遗传学检查证实为 Andersen-Tawil 综合征。尽管其父亲携带相同的基因突变（p.G300A），但他仅经历轻微且偶发的瘫痪发作。由于患者症状发生变化，如伴随疼痛、挛缩和 CK 显著升高，故重新考虑诊断。对患者肱二头肌进行肌肉活检，结果显示存在糖原储存，但无管状聚集物。磷酸化酶激酶调节亚基α 1（PHKA1）基因分析显示存在致病性突变（p.C1082X），提示糖原贮积症 IXd 型。该病例表明，糖原贮积症 IXd 型的共同发生可能会延长肌无力发作时间，并导致 Andersen-Tawil 综合征患者出现严重的肌肉疼痛。
