Ischemic stroke due to hypoperfusion in a patient with a previously unrecognized Danon disease
| Autor: | Giuseppe Paleologo, Antonio Toscano, Alba Migliorato, Olimpia Musumeci, Maria Cucinotta, Carmelo Rodolico, Marco Marino |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Male medicine.medical_specialty “De novo” mutation Neurological examination Chest pain Brain hypoperfusion Brain Ischemia Brain ischemia Diagnosis Differential 03 medical and health sciences Young Adult 0302 clinical medicine Fatal Outcome Internal medicine Lysosomal-Associated Membrane Protein 2 medicine Humans Danon disease Muscle Skeletal Stroke Genetics (clinical) Muscle biopsy Ischemic stroke medicine.diagnostic_test business.industry Hypertrophic cardiomyopathy medicine.disease Glycogen Storage Disease Type IIb Surgery Heart Arrest 030104 developmental biology Peripheral neuropathy Neurology Pediatrics Perinatology and Child Health Cardiology Neurology (clinical) Occipital Lobe medicine.symptom business 030217 neurology & neurosurgery |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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