Two Cases of Danon Disease – A 'Cousin' of Pompe Disease

    January 2015 in “ Journal of Neuromuscular Diseases
    Е. Н. Басаргина, S. Polyakova, Н В Фёдорова, A. Pushkov, К. В. Савостьянов
    TLDR Danon disease can be hard to diagnose due to non-specific symptoms.
    Danon disease, a rare X-linked cardiac and skeletal myopathy, was described in two boys aged 5 and 7 years who presented with weakness, fatigue, and elevated liver enzymes. Initially misdiagnosed with drug-induced and cryptogenic hepatitis, both boys exhibited arrhythmia and WPW syndrome. Their symptoms, including low hair growth, muscle pseudohypertrophy, and distinctive physical features, were not specific to Danon disease. The 7-year-old also showed aggressive behavior from age 4. These cases highlighted the diagnostic challenges due to non-specific symptoms and the importance of considering Danon disease in similar clinical presentations.
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