Psychiatric manifestations of multiple sclerosis and acute disseminated encephalomyelitis

It is unusual for acute disseminated encephalomyelitis and multiple sclerosis to present as purely psychiatric disorders. We report five patients with such demyelinating diseases and symptoms of psychosis, depression or anxiety. The importance of excluding demyelination as the basis for these psychiatric disturbances is emphasized, especially in the presence of unexplained neurologic findings. The possible relationship between psychiatric symptoms and demyelinating disorders is explored

Rozsiane zapalenie mózgu i rdzenia kręgowego oraz stwardnienie rozsiane; dwie różne choroby - spojrzenie krytyczne

Podjęcie leczenia immunomodulacyjnego bezpośrednio po wystąpieniu pierwszego izolowanego zespołu objawów (CIS, clinically isolated syndrome), sugerującego stwardnienie rozsiane (SM, sclerosis multiplex), powinno być poprzedzone diagnostyką różnicową z wykluczeniem rozsianego zapalenia mózgu i rdzenia kręgowego (DEM, disseminated encephalomyelitis). Przebieg kliniczny, właściwości genetyczne, obraz histopatologiczny oraz wyniki badań obrazowych wskazują, że DEM i SM są odrębnymi jednostkami chorobowymi. Ostre i nawracające DEM częściej dotyczy dzieci, ale może również wystąpić u osób dorosłych. Przebieg DEM jest wieloobjawowy. W porównaniu z SM częściej występują gorączka, zaburzenia świadomości, zaburzenia poznawcze, afazja i objawy oponowe. Rzadko stwierdza się obecność prążków oligoklonalnych w płynie mózgowo-rdzeniowym. Rezonans magnetyczny (MRI, magnetic resonance imaging) jest najlepszą metodą obrazowania ośrodkowego układu nerwowego wykorzystywaną w diagnostyce różnicowej DEM i SM. W przypadku DEM występuje wiele ognisk demielinizacji w istocie białej. Zmiany umiejscawiają się także we wzgórzu i jądrach podstawy. W początkowej fazie choroby są zwykle bardziej rozległe niż w przypadku SM i wzmacniają się po podaniu gadoliny. W obrazie MRI stwierdza się występowanie ognisk demielinizacyjnych obejmujących co najmniej trzy segmenty rdzenia kręgowego oraz zapalenie nerwów wzrokowych (NMO, neuromyelitis optica). Niekiedy NMO towarzyszy obecność przeciwciał przeciw akwaporynie 4, ale bywają także stwierdzane w SM oraz DEM. W większości przypadków NMO jest składową DEM, a nie SM i przypomina „orientalną” lub „wzrokowo-rdzeniową” postać SM

Should MS be Treated by Escalation or Induction Therapy?

MS is a chronic, increasingly disabling disease whose long-term outcomes determine the key social, medical and economic impact of this disease. Disease-modifying therapies (DMTs) for multiple sclerosis (MS) are prescribed to delay disease progression and to protect a patient’s functional capability. The concepts of escalation and induction immunotherapy in MS represent different therapeutic strategies for the treatment of MS. Both strategies may be valuable options for patients starting on DMT, however, induction therapy mainly focuses on patients with very aggressive course of MS from the onset. Using a patient unique approach to selection of treatment, MS can be effectively control disease and may delay or even prevent the development of secondary progressive MS

Carnitine palmitoyl transferase type 2 defi ciency -case report and review of the literature

ABSTRACT -Carnitine palmitoyl transferase (CPT) defi ciency is a relatively rare disease of fatty acid oxidation inherited autosomal recessively. CPT2 defi ciency presents frequently in adults with rhabdomyolysis and myoglobinuria triggered most oft en by prolonged exercise. Carnitine is required for the transfer of longchain fatty acids from the cytoplasm to the mitochondrial matrix for their oxidation. Strenuous exercise is known to increase serum creatine kinase (CK) in nearly all healthy people and can be elevated oft en over ten times the upper limit of normal. Rhabdomyolysis can be of inherited etiology (disorders of glycogenolysis, fatty acid oxidation, mitochondrial respiratory chain pathways) or acquired (trauma, compartment syndrome, drugs, caff eine, toxins, infections, infl ammatory muscle diseases, and exertion). Here we present a female patient with CPT2 defi ciency diagnosed aft er recurrent rhabdomyolysis upon physical exertion and carbohydrate-restrictive diet. With the implementation of dietary measures and lifestyle changes that included more frequent but shorter interval exercise and avoidance of inappropriate physical exertion, the patient had a normal neurological status with only slightly elevated CK levels. Th is example illustrates the importance of careful monitoring of patients with increased levels of CK, even when there are no evident clinical, histopathologic or electromyoneurography (EMNG) indicators of myopathy

Elevated ectodomain of type 23 collagen is a novel biomarker of the intestinal epithelium to monitor disease activity in ulcerative colitis and Crohn's disease

BACKGROUND: Impaired intestinal epithelial barrier is highly affected in inflammatory bowel disease. Transmembrane collagens connecting the epithelial cells to the extracellular matrix have an important role in epithelial cell homeostasis. Thus, we sought to determine whether the transmembrane type 23 collagen could serve as a surrogate marker for disease activity in patients with Crohn's disease and ulcerative colitis. METHODS: We developed an enzyme-linked immunosorbent assay to detect the ectodomain of type 23 collagen (PRO-C23) in serum, followed by evaluation of its levels in both acute and chronic dextran sulfate sodium colitis models in rats and human inflammatory bowel disease cohorts. Serum from 44 Crohn's disease and 29 ulcerative colitis patients with active and inactive disease was included. RESULTS: In the acute and chronic dextran sulfate sodium-induced rat colitis model, the PRO-C23 serum levels were significantly increased after colitis and returned to normal levels after disease remission. Serum levels of PRO-C23 were elevated in Crohn's disease (p < 0.05) and ulcerative colitis (p < 0.001) patients with active disease compared to healthy donors. PRO-C23 differentiated healthy donors from ulcerative colitis (area under the curve: 0.81, p = 0.0009) and Crohn's disease (area under the curve: 0.70, p = 0.0124). PRO-C23 differentiated ulcerative colitis patients with active disease from those in remission (Area under the curve: 0.75, p = 0.0219) and Crohn's disease patients with active disease from those in remission (area under the curve: 0.68, p = 0.05). CONCLUSION: PRO-C23 was elevated in rats with active colitis, and inflammatory bowel disease patients with active disease. Therefore, PRO-C23 may be used as a surrogate marker for monitoring disease activity in ulcerative colitis and Crohn's disease

Natural Disease Course of Ulcerative Colitis During the First Five Years of Follow-up in a European Population-based Inception Cohort-An Epi-IBD Study

International audienceBackground and Aims: Few population-based cohort studies have assessed the disease course of ulcerative colitis [UC] in the era of biological therapy and widespread use of immunomodulators. The aim of this study was to assess the 5-year outcome and disease course of patients with UC in the Epi-IBD cohort. Methods: In a prospective, population-based inception cohort of unselected patients with UC, patients were followed up from the time of their diagnosis, which included the collection of their clinical data, demographics, disease activity, medical therapy, and rates of surgery, cancers, and deaths. Associations between outcomes and multiple covariates were analysed by Cox regression analysis. Results: A total of 717 patients were included in the study. During follow-up, 43 [6%] patients underwent a colectomy and 163 [23%] patients were hospitalised. Of patients with limited colitis [distal to the left flexure], 90 [21%] progressed to extensive colitis. In addition, 92 [27%] patients with extensive colitis experienced a regression in disease extent, which was associated with a reduced risk of hospitalisation (hazard ratio [HR]: 0.5 95% CI: 0.3-0.8]. Overall, patients were treated similarly in both geographical regions; 80 [11%] patients needed biological therapy and 210 [29%] patients received immunomodulators. Treatment with immunomodulators was found to reduce the risk of hospitalisation [HR: 0.5 95% CI: 0.3-0.8]. Conclusions: Although patients in this population-based cohort were treated more aggressively with immunomodulators and biological therapy than in cohorts from the previous two decades, their disease outcomes, including colectomy rates, were no different. However, treatment with immunomodulators was found to reduce the risk of hospitalisation

Isolated cranial nerve palsies in multiple sclerosis

Data on patients with multiple sclerosis and cranial nerve involvement as a presenting sign or a sign of disease exacerbation were retrospectively analyzed. Isolated cranial nerve involvement was present in 10.4% out of 483 patients, either as a presenting symptom (7.3%) or a symptom of disease relapse (3.1%). Trigeminal nerve was most frequently involved, followed by facial, abducens, oculomotor and cochlear nerves. Only 54% of patients had brainstem MRI lesion that could explain the symptoms. As multiple sclerosis is a disease characterized by multiple neurological symptoms, while early diagnosis and therapy are critical for the prognosis and course of the disease, the diagnosis of multiple sclerosis should be considered in young adults with cranial nerve involvement