期刊
NEUROMUSCULAR DISORDERS
卷 26, 期 12, 页码 890-894出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2016.09.025
关键词
Ischemic stroke; Danon disease; Brain hypoperfusion; De novo mutation
资金
- Telethon [GUP13013]
Danon disease, an X-linked multisystemic disorder, is due to deficiency of Lysosome-Associated Membrane Protein 2 (LAMP2). It is usually characterized by hypertrophic cardiomyopathy, mental retardation and skeletal myopathy, sometimes also with atypical features. A 20-year-old man with cognitive impairment was admitted to the Emergency Room because of a sudden chest pain. ECG showed Wolff Parkinson White syndrome; echocardiography revealed hypertrophic cardiomyopathy, and, shortly after, he experienced a cardiac arrest followed by an occipital ischemic stroke. On neurological examination, he complained of visual loss, and diffuse muscle wasting and weakness were also unexpectedly noted. Electromyography evidenced a myopathic pattern and a peripheral neuropathy. A muscle biopsy disclosed vacuolar myopathy with glycogen storage; immunohistochemical studies demonstrated a LAMP-2 deficiency. LAMP2 molecular analysis identified a de novo mutation (p. Q353X). This patient with a neglected Danon disease, experienced an unusual complication as a stroke due to cerebral hypoperfusion after cardiac arrest caused by WPW syndrome. (C) 2016 Elsevier B.V. All rights reserved.
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