Muscle and thyroid manifestations in TANGO2 deficiency disorder: a case study of novel biallelic variants

TANGO2 deficiency disorder (TDD) is a rare autosomal recessive disease that causes recurrent metabolic crises characterized by encephalopathy, rhabdomyolysis, fatal arrhythmia, and hypothyroidism, among others. However, the clinical course of muscle magnetic resonance imaging (MRI) and thyroid function in TDD have not been well described.

The patient was a 3-year-old boy with no relevant medical history. After showing episodic ataxia, he developed metabolic crises twice and was eventually diagnosed with TDD with a novel variant. During the clinical course, MRI showed migratory signal changes in the lower limb muscles, primarily affecting the gastrocnemius, soleus, biceps femoris, and vastus medialis during the two episodes of rhabdomyolysis. Furthermore, the patient experienced a thyroid function abnormality with a primary hypothyroidism pattern that resolved spontaneously.

The case findings provide novel clinical insights into muscle MRI findings and thyroid function abnormalities in TDD and can help in early diagnosis and management of TDD.