Panagiotis Toulas

Magnetic resonance evaluation of liver and myocardial iron deposition in thalassemia intermedia and b-thalassemia major

Introduction b-Thalassemia major (TM) and thalassemia intermedia (TI) are forms of inherited hemoglobinopathies. Our aim was to evaluate a population of asymptomatic TM and TI patients using cardiovascular magnetic resonance (CMR). We hypothesized that the TI group could be differentiated from the TM group based on T2*. We also hypothesized that the TI group would demonstrate significantly higher cardiac output compared to the TM group. Patients and methods Twenty-one consecutive TI patients aged 23(19–25) years, 21 TM patients and 21 age and sex matched controls were studied. Evaluation of heart, liver T2* relaxation time and right and left ventricular parameters was performed using a 1.5 T system. Results Myocardial and liver T2* values were significantly higher in TI patients compared to TM (34.35 ± 2.36 vs 15.77 ± 3.53 m, P < 0.001 and 5.12 ± 6.52 vs 1.36 ± 0.53 ms, P < 0.001, respectively). Controls had myocardial T2* 35.07 ± 4.52 ms (similar to TI patients, but significantly increased compared to TM patients, P < 0.001) and liver T2* 26.28 ± 2.37 ms (significantly increased compared to both TI and TM patients, P < 0.001). Left ventricular end-diastolic (LVEDV), end-systolic (LVESV) volumes and left ventricular ejection fraction (LVEF) were higher in TI patients compared to TM (P < 0.001). Stroke volume (LVSV), cardiac output (LVCO) and cardiac index (LVCI) were similarly increased in TI patients compared to TM (P < 0.001). Right ventricular end-diastolic volume (RVEDV), right ventricular end-systolic volume (RVESV) and right ventricular ejection fraction (RVEF) were higher in TI patients compared to TM (P < 0.001). Conclusions Although in TM iron plays a crucial role in the evolution of the disease, in TI the high output cardiac state seems to be the most prominent finding.

Spinal cord stroke in a ballet dancer.

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 patients clinical presentation and neuroimaging findings made fibrocartilaginous embolism the most likely etiopathogenetic mechanism of spinal stroke.

Hyperventilation-Enhanced Chorea as a Transient Ischaemic Phenomenon in a Patient with Moyamoya Disease

Introduction Moyamoya disease is a relatively rare and eventually underdiagnosed cerebral vasculopathy of unknown aetiology, which is characterised by progressive bilateral narrowing or occlusion of the terminal portion of the internal carotid artery and the proximal part of the anterior and middle cerebral artery, with the concomitant development of an abnormal meshwork of basal collateral vessels. The disease may also involve the posterior circulation, most commonly the posterior cerebral artery. The first symptoms usually become clinically evident and diagnosis is made during childhood or in young adult life. Epileptic seizures, migrainous headaches, transient ischaemic attacks or ischaemic strokes in children and haemorrhagic strokes in adults are the cardinal initial manifestations of this uncommon cerebrovascular disease [1–4]. Involuntary movements, such as dyskinesia, chorea or hemiballismus [1, 5], behavioural disturbances [6], neuropsychological deficits and mental deterioration [7] have rarely been described. Moyamoya disease has to be distinguished from the secondary moyamoya syndrome, which occurs mostly unilaterally and is associated with a series of other diseases [1, 8, 9]. The clinical differentiation is not easy since the symptoms of both entities are similar. Moyamoya disease has been predominantly described in Japan and other Asian countries [1, 2]. Smaller case series from the United States, Canada and Europe indicate a significantly lower incidence and prevalence of moyamoya disease outside Japan [10–12]. Another typical difference is that the distinction between childhood and adulthood cases that characterises the Japanese moyamoya disease is less clear in western populations. We describe a case of moyamoya disease with choreatic movements, which get dramatically enhanced by hyperventilation.

MRI Evidence of Early Muscle Atrophy in MuSK Positive Myasthenia Gravis

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.

AchR-positive myasthenia gravis with MRI evidence of early muscle atrophy.

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.

Natalizumab-related progressive multifocal leukoencephalopathy in Greece.

BACKGROUND & OBJECTIVES Progressive multifocal leukoencephalopathy (PML) may complicate natalizumab treatment in multiple sclerosis patients. We sought to characterize the clinical and laboratory features of natalizumab-related PML (NR-PML) cases from Greece. METHODS Pharmaceutical industry, national drug authorities and all neurology departments within the Greek territory were asked to provide data for cases of NR-PML until October 2012. Collected cases were classified according to their level of diagnostic certainty using the five-level system introduced by Mentzer et al. (2012). RESULTS Thirteen NR-PML cases were identified by the neurology departments. Data were provided for only 9 cases. PML manifestations appeared after a median number of 40 (21-52) natalizumab infusions. All but two patients were treated with plasma exchange and some were treated adjunctively with mirtazapine while the others were treated with mefloquine. IRIS developed in 6 cases after a median time of 6 (2-10) weeks from PML presentation and were treated with different regimens of corticosteroids. PML was fatal in 3 cases. The median EDSS after a median follow-up time of 12 (8-23) months in the surviving cases was 4.75 (2-8.5). CONCLUSIONS Outcomes for collected NR-PML cases varied from death to returning to baseline. Close surveillance is essential for early diagnosis and treatment of NR-PML patients.