Udar niedokrwienny u pacjentki ze stwardnieniem rozsianym jako powikłanie długotrwałego leczenia immunosupresyjnego mitoksantronem - opis przypadku

Przedstawiono przypadek 43-letniej chorej ze stwardnieniem rozsianym (SM, sclerosis multiplex), leczonej immunosupresyjnie mitoksantronem, u której wystąpił udar niedokrwienny w trakcie stosowania wyżej wspomnianego leczenia. Dwa miesiące po 5. podaniu wlewu dożylnego mitoksantronu (dawka skumulowana 44 mg/m2) u pacjentki wystąpił pierwszy w życiu napad drgawek uogólnionych z kilkugodzinnym stanem pomrocznym. W badaniu rezonansu magnetycznego uwidoczniono obszar odpowiadający zawałowi mózgu z niewielkim brzeżnym ukrwotocznieniem na pograniczu skroniowo-ciemieniowo-potylicznym prawej półkuli oraz niewielki linijny obszar rozmiękania w homotopowym obszarze lewej półkuli. W badaniach pomocniczych wykluczono główne przyczyny udaru niedokrwiennego. Leczenie mitoksantronem przerwano. Po 18 miesiącach wystąpił stan padaczkowy, który był powodem hospitalizacji na oddziale intensywnej opieki medycznej. Przy przyjęciu do szpitala pacjentka była w stanie ciężkim (4 pkt. w Glasgow Coma Scale); mimo stosowanego leczenia obserwowano gromadne napady padaczkowe. W 6. dobie hospitalizacji chora zmarła. Autopsji nie wykonywano. W przypadku tym rozważano możliwą rolę mitoksantronu jako czynnika sprawczego udaru niedokrwiennego

Intracerebral haemorrhage after amphetamine use

Krwotok śródmózgowy (ICH) należy do typów udaru o najpoważniejszym rokowaniu. Charakteryzuje się ciężkim przebiegiem klinicznym oraz wysoką śmiertelnością (60%). Do najczęstszych czynników etiologicznych ICH należą nadciśnienie tętnicze oraz obecność malformacji naczyniowej w obrębie ośrodkowego układu nerwowego (OUN). Pierwotny (nieurazowy) ICH może wystąpić również po zażyciu substancji psychoaktywnych, które stanowią istotny czynnik ryzyka krwawienia do OUN, zwłaszcza u osób młodych. W poniższej pracy zaprezentowano przypadek młodej kobiety, u której udar krwotoczny wystąpił po zażyciu amfetaminy. Wykonane badania neuroobrazowe wykluczyły inne przyczyny krwawienia, takie jak malformacja naczyniowa czy guz mózgu. W tym przypadku rokowanie okazało się pomyślne, a stosowane leczenie zachowawcze oraz rehabilitacja ruchowa korzystnie wpłynęły na stan funkcjonalny pacjentki.Intracerebral haemorrhage (ICH) is one of the most devastatingforms of stroke. It is characterized by a severe clinical course and high mortality (60%). The most common etiological risk factors are: hypertension and vascular malformation. Amphetamine-like stimulants abuse can be also considered as a cause of intracranial haemorrhage. Young people seem to be the main group at risk. In this study we present a young female with ICH subsequent to amphetamine intake. The patient underwent brain computed tomography, magnetic resonance imaging and angiography. Basing on performed examinations we excluded vascular malformation and brain tumor. Therefore we suspect that the ICH in our patient may be attributed to the effect of amphetamine alone. In this case the outcome proved to be successful. Medical treatment and physical rehabilitation had positive influence on functional status of patient

Zapalenie nerwów wzrokowych i rdzenia Devica (NMO) oraz choroby ze spektrum NMO

Zapalenie nerwów wzrokowych i rdzenia Devica jest autoimmunologicznym, zapalno-demielinizacyjnym schorzeniem ośrodkowego układu nerwowego o poważnym rokowaniu. Należy do chorób rzadkich, a chorobowość wśród rasy białej wynosi około 1/100 000. Od czasu pierwszego opisu tej jednostki chorobowej w XIX wieku prowadzono liczne badania dotyczące jej patogenezy oraz typowej symptomatologii. Początkowo obraz kliniczny sprowadzano jedynie do objawów zajęcia nerwów wzrokowych i rdzenia kręgowego, a choroba była traktowana jako jeden z wariantów stwardnienia rozsianego. Przełomowe znaczenie w wyodrębnieniu tej jednostki chorobowej oraz zrozumieniu jej etiopatogenezy miało odkrycie swoistych przeciwciał przeciwko antygenom kanału wodnego akwaporyny 4. W ostatnim czasie zmieniło się również spojrzenie na symptomatologię choroby. Obecnie wiadomo, że obraz kliniczny może obejmować, poza objawami osiowymi, również kliniczne cechy zajęcia pnia mózgu, podwzgórza, zaburzenia funkcji poznawczych i wiele innych. Ponadto zmiany demielinizacyjne w obrazie rezonansu magnetycznego mózgowia nie wykluczają rozpoznania choroby Devica. W ostatnich latach wprowadzono także nowe metody immunoterapii. W 2015 roku opublikowano nowe kryteria diagnostyczne, w których usystematyzowano standardy rozpoznania zapalenia nerwów wzrokowych i rdzenia, co jest kluczowe w przypadku włączania leczenia. Terapia choroby Devica jest odmienna niż w stwardnieniu rozsianym, dlatego konieczna jest prawidłowa diagnostyka różnicowa tych dwóch schorzeń

The N-terminal pro-brain natriuretic peptide as a marker of mitoxantrone-induced cardiotoxicity in multiple sclerosis patients

Background and purpose Mitoxantrone (MTX) has been shown to reduce progression of disability and number of clinical exacerbations in patients with progressive multiple sclerosis (MS). Prolonged administration of MTX, however, is limited by the risk of cardiotoxicity. Cardiac monitoring in MTX-treated patients includes usually measurement of left ventricular ejection fraction (LVEF) by means of echocardiography. The N-terminal pro-brain natriuretic peptide (NT-proBNP) represents a novel diagnostic tool in the assessment of heart failure. This study was aimed to evaluate the usefulness of NT-proBNP for early detection of MTX-induced cardiotoxicity in MS patients. Materials and methods We measured the NT-proBNP plasma levels in 45 MS patients who completed 24-month MTX therapy and in 37 MS patients of control group. Results The median NT-proBNP plasma value was 15.12pg/mL. In 12 MTX-treated patients (27%), NT-proBNP plasma values were elevated, though this subgroup of patients neither clinical showed evidence of myocardial damage nor had the LVEF value <50%. In five patients with normal NT-proBNP, we observed LVEF decline >10%. We did not observe correlations between the NT-proBNP levels and patient age, MS duration, relapses index, Extended Disability Status Scale (EDSS), MTX single dose and the total cumulative dose of MTX. In 8 patients (22%) from control group, NT-proBNP plasma levels were also elevated. Conclusions The results of our study confirm that MTX therapy is safe for carefully selected and closely monitored MS patients. We believe that serial evaluation of NT-proBNP levels (before, during and after MTX therapy) can identify MS patients at high risk for MTX-induced cardiotoxicity

Clinical and neuroimaging correlation of movement disorders in multiple sclerosis : case series and review of the literature

Multiple sclerosis (MS) is a chronic inflammatory demyelinating disease of the central nervous system, in which movement disorders (MD) have been reported very rarely. Anatomopathological studies of MS indicate two main processes: inflammation and neurodegeneration. The occurrence of the movement disorders symptoms in MS revises the question of aetiology of these two diseases. During the 10 years of observation in our out-patient clinic and MS units we examined about 2500 patients with clinically definite MS diagnosed according to the revised McDonald’s criteria. Only in 10 cases we found coexistence of MS and MD signs. Below we present rare cases of patients with coexistence of MS and chorea, pseudoathetosis, dystonia and parkinsonism. Searching for the strategic focal lesion in our case series showed demyelinating plaques placed in the thalamus most often. Detailed analysis of the clinical, pharmacological and neuroimaging correlations may help to explain the character of movement disorders in MS

Complementary and alternative medicine in multiple sclerosis: a questionnaire-based study

Aim of the study. To assess the prevalence and characteristics of complementary and alternative medicine (CAM) use among multiple sclerosis (MS) patients in Poland. Clinical rationale for the study. Multiple sclerosis (MS) is a chronic, progressive and disabling neurological disease with significant impact on quality of life. Although the efficacy and safety of complementary and alternative medicine (CAM) has not been scientifically confirmed, many patients use CAM as a complement or an alternative to conventional therapy.Material and methods. Data was collected via a self-designed survey consisting of 33 questions. The questionnaire was distributed among MS patients hospitalised during 2016 in the MS Unit at the Department of Neurology, Medical University of Warsaw, Poland. The study group consisted of 75 patients (47 females, 28 males, mean age 44.6 ± 12.5 years) with clinically defined MS.Results. According to the questionnaire, 48 patients (64%) had used CAM at least once. Most of the patients declared that CAM had a possible (58%) or a marked (43.7%) positive effect. 61.4% of CAM users reported reduced fatigue and 33.3% improved mood. There were significant correlations between CAM use and lower social and professional status (p < 0.04), disease progression (p < 0.03), and lack of efficacy of disease-modifying therapies (p < 0.04). There were no significant correlations between CAM usage and sex, habitation, education, marital or professional status. The most frequently used CAMs were vitamins (48%),and polyunsaturated fatty acids (36%); psychophysical methods (44%) included manual therapies (24%) and relaxation techniques (17.3%) as well as herbal medicine (29.3%). Physicians were considered to be the most reliable authority in both conventional treatment (97.3%) and CAM (67%). Complementary and alternative medicine users significantly more often discussed this issue with their doctors (56%) compared to patients who did not use alternative medicine (p < 0.05). However, 54% of patients did not inform their physician about CAM use. Responders said that physicians did not initiate discussion about it (55.9%), but44% of patients would like to have the possibility of talking to a doctor about CAM.Conclusions and clinical implications. Although CAM efficacy and safety is not confirmed, one should keep in mind that most MS patients use alternative methods, especially those individuals with a more severe phenotype. Physicians are mostly perceived as reliable authorities and therefore they should discuss this issue with patients in order to eliminate drug interactions and to improve compliance

Tripeptidyl Peptidase 1 (TPP1) Deficiency in a 36-Year-Old Patient with Cerebellar-Extrapyramidal Syndrome and Dilated Cardiomyopathy

We report on a 36-year-old man with cerebellar-extrapyramidal syndrome and severe heart failure because of dilated cardiomyopathy of unknown origin. Dysarthria and cardiac arrhythmia began at early childhood (4 years of age). Brain MRI (28 years of age) demonstrated severe cerebellar atrophy. At the age 32, he presented with dysarthria, ataxia, dystonia, and tremor of the right hand, bilateral slowed neural conduction in the visual pathways, and decreased mental acuity. At the age of 33 years, the patient underwent cardiac transplantation because of severe dilated cardiomyopathy. In the TPP1 gene, biallelic variants were identified: previously reported p.(Leu13Pro) and novel p.(Tyr508Cys) variant. Additionally, hemizygous novel missense variant in the ABCD1 gene was inherited from the mother p.(Arg17His). Normal very-long-chain fatty acids (VLCFA) levels both in patient and his mother excluded ABCD1 mutation as the pathogenic one. Tripeptidyl peptidase 1 (TPP1) activity was reduced (8,8 U/mg protein/h; reference range: 47.4 ± 10.7). In light microscopy the biopsy specimens obtained from explanted heart showed severe myocyte hypertrophy with perinuclear vacuolization with inclusions. Electron microscopy revealed absence of lipofuscin accumulation, no ultrastructural curvilinear profiles, fingerprint bodies, or granular osmiophilic deposits (GRODs) in lysosomes. As described here, the patient presents clinical symptoms observed in benign forms of ceroid lipofuscinosis type 2 (CLN2) and simultaneously some features of autosomal recessive spinocerebellar ataxia type 7 (SCAR7), which is also caused by mutations in the TPP1 gene