[Show abstract][Hide abstract] ABSTRACT: Current evidence suggests cardiac involvement and electrocardiographic changes of increasing frequency with age in patients with myotonic dystrophy type 2 (DM2). Myocyte hypertrophy with concurrent fibrosis seems to be the anatomical correlate. Moreover, morphological and functional changes indicative of subclinical cardiomyopathy have been demonstrated by means of cardiac magnetic resonance imaging (CMRI) and spectroscopy in patients with no overt cardiac disease. We present a 68-year-old woman with genetically established DM2 and no clinical, electrocardiographic or echocardiographic signs indicative of cardiac involvement. CMRI revealed delayed contrast enhancement of the anterior portion of the interventricular septum, indicating myocardial involvement. Contrast-enhanced CMRI might be a useful diagnostic tool in assessing cardiac involvement in cases of DM2. The role of delayed contrast enhancement should be further investigated in order to elucidate the cardiac features of this fascinating multisystem disease.
[Show abstract][Hide abstract] ABSTRACT: Muscle atrophy, when it occurs in myasthenia gravis (MG), is usually associated with long-standing disease or with chronic corticosteroid treatment. Early muscle atrophy in a steroid-naive patient has been reported previously only in muscle-specific tyrosine kinase (MuSK)-MG. We report a 63-year-old male patient with acetylcholine receptor (AchR)-positive MG with a short duration of disease, no steroid treatment and MRI evidence of muscle atrophy.
[Show abstract][Hide abstract] ABSTRACT: Muscle atrophy, particularly of facial and bulbar muscles, seems to be a relatively common long-term consequence of musclespecific tyrosine kinase-myasthenia gravis (MuSK-MG), perhaps reflecting the chronic state of disease or long-term therapy with corticosteroids. We performed magnetic resonance imaging (MRI) to assess muscle wasting in the facial and bulbar muscles in two female MuSK-MG patients, with short duration of symptoms prior to diagnosis and prior to commencement of steroid therapy. The study revealed marked atrophy of temporalis, masseters, and lingual muscles with fatty replacement. MRI evidence of early muscle atrophy in MuSK-MG may indicate that MuSK antibodies per se may predispose to muscle atrophy.
Journal of neuroimaging: official journal of the American Society of Neuroimaging 12/2009; 21(3):303-5. DOI:10.1111/j.1552-6569.2009.00456.x · 1.73 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Fibrocartilaginous embolism of the intervertebral disc represents an uncommon cause of spinal cord infarction. We present the case of a previously healthy 30-year old ballet dancer who noted acute severe neck pain shortly after an intensive training session and developed weakness and numbness of both arms, as well as difficulties in emptying the bladder and bowel. Her clinical presentation and neuroimaging studies including diffusion weighted imaging were consistent with a spinal cord infarction in the anterior spinal territory at the C3-C6 spinal cord level. Although no histological confirmation was obtained, lack of evidence of other plausible diagnoses in the setting of the patient's clinical presentation and neuroimaging findings made fibrocartilaginous embolism the most likely etiopathogenetic mechanism of spinal stroke.
Journal of the Neurological Sciences 06/2006; 244(1-2):159-61. DOI:10.1016/j.jns.2006.01.003 · 2.47 Impact Factor