An unusual case of recurrent episodes of muscle weakness: Co-occurrence of Andersen-Tawil syndrome and glycogen storage disease type IXd

摘要

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 (PHKAJ) 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. (C) 2020 Elsevier B.V. All rights reserved.