A case report of Andersen-Tawil syndrome misdiagnosed with myodystrophy

Figures

• 

  Figure 1. The electrocardiogram showed inverted U waves (A), and the echocardiogram showed no apparent abnormality (B). Genetic analysis using sequencing chromatograms identified a heterozygous KCNJ2 gene variant (c.220A>G; p.T74A) (C). There was no noticeable abnormality in cranial magnetic resonance imaging (D–F).

• 

  Figure 2. Long-term exercise test results demonstrated that the CMAP amplitude of the right little finger abductor muscle was 74.4% lower than it was at baseline, and the area was reduced by 66% (A,E,I). The median nerve (B), the ulnar nerve (F), and the peroneal nerve (J), and motor conduction were normal. Sensory conduction of the median nerve (C), the ulnar nerve (G), and the superficial peroneal nerve (K) was normal. Electrophysiologic concentric needle examination fibrillation and a sharp positive wave at resting potentials (D). Light contraction showed a narrow waveform (H,L).

• 

  Figure 3. Short stature, facial features (AP and lateral), low-set ears, hypoplastic mandible, small hands and feet, clinodactyly of the fifth toe, and skeletal anomalies of the patient with ATS (permission was granted by the patient).