Ischemic stroke due to hypoperfusion in a patient with a previously unrecognized Danon disease.
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.
Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Marco
M
Marino
Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Olimpia
O
Musumeci
Department of Cardiovascular Diseases, Papardo - Piemonte Hospital, Messina, Italy.
Giuseppe
G
Paleologo
Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Maria
M
Cucinotta
Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Alba
A
Migliorato
Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Carmelo
C
Rodolico
Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy. Electronic address: atoscano@unime.it.
Antonio
A
Toscano
D002545:Brain Ischemia / Q000000981:diagnostic imaging / Q000209:etiology* / Q000503:physiopathology*; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D052120:Glycogen Storage Disease Type IIb / Q000150:complications* / Q000175:diagnosis / Q000473:pathology / Q000503:physiopathology*; D006323:Heart Arrest / Q000209:etiology / Q000503:physiopathology; D006801:Humans; D052119:Lysosomal-Associated Membrane Protein 2 / Q000235:genetics / Q000378:metabolism; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology; D009778:Occipital Lobe / Q000098:blood supply / Q000000981:diagnostic imaging; D020521:Stroke / Q000000981:diagnostic imaging / Q000209:etiology* / Q000503:physiopathology*; D055815:Young Adult
C497811:LAMP2 protein, human; D052119:Lysosomal-Associated Membrane Protein 2
Brain hypoperfusion; Danon disease; Ischemic stroke; “De novo” mutation