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25 Possible Causes for Muscle Biopsy showing Presence of Vacuoles, Respiratory Insufficiency

  • Glycogen Storage Disease Type 2

    failure.[eurekaselect.com] Muscle biopsy in Pompe disease shows the presence of vacuoles that stain positively for glycogen.[dx.doi.org] Main findings are muscle weakness and severe respiratory insufficiency while cardiac involvement may be completely absent.[eurekaselect.com]

  • Hypokalemic Periodic Paralysis

    Here, we report the case of a 16-year-old boy who presented with frequent respiratory insufficiency during the severe attacks.[ncbi.nlm.nih.gov] The third has an isolated proximal renal tubular acidosis complicated with multiple organ abnormalities, unilateral carotid artery stenosis, respiratory failure, and consciousness[ncbi.nlm.nih.gov] insufficiency during anaesthesia.[hkpp.org]

  • Fingerprint Body Myopathy

    Other features may include neck extensor weakness, respiratory insufficiency, or rapid progression.[emedicine.medscape.com] Interattack muscle biopsies show the presence of single or multiple centrally placed vacuoles or tubular aggregates.[basicmedicalkey.com] insufficiency.[gopubmed.org]

  • Distal Myopathy Type 3

    Within 2 days she developed respiratory failure with prominent hypercapnia and was intubated.[jnnp.bmj.com] The electromyograhy (EMG) shows a myopatic pattern and the muscles biopsy reveals dystrophic changes without the presence of rimmed vacuoles 1,4.[scielo.br] Children with Ullrich’s disease may develop respiratory failure during sleep in the first decade of life.[web.archive.org]

  • Inclusion Body Myositis

    insufficiency.[ncbi.nlm.nih.gov] Muscle biopsy will also show rimmed vacuoles (abnormal cellular structures that are also called inclusion bodies), amyloid deposits (presence of abnormal proteins), and endomysial[hss.edu] […] was undertaken which revealed that diaphragmatic weakness was the etiology of his respiratory failure.[ncbi.nlm.nih.gov]

  • Myositis

    Primary respiratory failure in inclusion body myositis. Neurology (2004). doi:10.1212/01.WNL.0000145834.17020.86[mda.org] In inclusion body myositis, findings on muscle biopsy may show the presence of vacuolated muscle fibers with basophilic granular deposits, the presence of varying degrees[rheumatologyadvisor.com] In adults, death may result from: Malnutrition Pneumonia Respiratory failure Severe, long-term muscle weakness The major causes of death are cancer and lung disease.[nlm.nih.gov]

  • Cardiodysrhythmic Potassium-Sensitive Periodic Paralysis

    Cardiac arrhythmia or respiratory insufficiency usually does not occur during attacks.[strongbridgebio.com] In periodic paralysis muscle biopsy may show a wide range of abnormalities, vacuoles being more specifically linked to the disease.[ajns.paans.org] insufficiency during anaesthesia.[hkpp.org]

  • Proximal Myopathy with Extrapyramidal Signs

    Respiratory failure is the most common cause of death.[neuroweb.us] Muscle biopsy shows the presence of vacuoles, containing glycogen, in muscle fibers, which are present during an attack, and which may decrease in number immediately after[intranet.tdmu.edu.ua] insufficiency (eg, progressive nocturnal hypoventilation), and neurologic complications related to skeletal deformity and to the use of medical supporting devices (eg, peripheral[emedicine.medscape.com]

  • Oculopharyngeal Muscular Dystrophy

    Rose and colleagues described a Greek sibling pair with a progressive dystrophy presenting in adolescence that led rapidly to respiratory failure ( Rose et al ., 1997 ).[brain.oxfordjournals.org] Muscle biopsy in the four affected patients showed variation in fiber size, and the presence of small angulated fibers and occasional rimmed vacuoles.[ncbi.nlm.nih.gov] Electron microscopic examination revealed an accumulation of filamentous inclusions in muscle fiber nuclei.[ncbi.nlm.nih.gov]

  • Paramyotonia Congenita

    insufficiency prominent at later stages, both leading to premature death.[now.aapmr.org] Muscle biopsy - A muscle biopsy showing vacuoles confirms the presence of non-specific myopathy; however, it does not confirm a diagnosis of paramyotonia congenita.[symptoma.com] Cardiac arrhythmia or respiratory insufficiency usually does not occur during attacks.[strongbridgebio.com]

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