Mitokondriyal Bozukluğu Olan Hastalarda Klinik ve Histopatolojik İnceleme

Objective: Mitochondrial diseases are clinically heterogenous group of disorders with widely varying clinical features. Diagnosis can be difficult and requires synthesis of clinical, biochemical, histopathological and molecular data. These investigations may not be available in most medical centers. Muscle biopsy provides an important information to confirm a mitochondrial disease. Ragged red fibers and cytochrome oxidase negative fibers are the morphological hallmark of mitochondrial diseases. In this study, we aimed to analyze clinical features and histopathological findings of patients with mitochondrial abnormalities on muscle biopsy. Methods: We retrospectively evaluated demographic and neurologic features, presenting symptoms, additional systemic manifestations, syndromic features of patients with mitochondrial abnormalities on muscle biopsy, according to diagnostic criteria for mitochondrial cytopathies. Results: Among 936 muscle biopsy sample, 118 showed mitochondrial abnormalities. Eighty four patients were considered as primary mitochondrial disease based on clinical and histopathologic features. The diagnosis of 34 patients was nonmitochondrial diseases according to their clinical features and additional histopathologic findings. The most common syndrome was chronic progressive external ophtalmoplegia in 61 patients. Fifteen patients had isolated proximal myopathy and 4 patients had Kearns Sayre syndrome, 2 patients had SANDO, 1 patient had MNGIE, 1 patient had MLASA. Conclusion: Mitochondrial abnormalities occur in both mitochondrial diseases and many nonmitochondrial diseases. The majority of patients with primary mitochondrial disorders have ophtalmologic abnormalities or neuromuscular manifestations. The accurate diagnosis of mitochondrial diseases relies on a multidisciplinary approach and muscle biopsy is useful in both accurate diagnosis and differential diagnosis.Amaç: Mitokondriyal hastalıklar, oldukça geniş ve değişken olan klinik özellikleriyle heterojen bir hastalık grubudur. Tanısı zor olabilir ve klinik, biyokimyasal, histopatolojik, moleküler verilerin birlikte değerlendirilmesini gerektirir. Bu incelemeler birçok merkezde uygulanamayabilir. Kas biyopsisi mitokondriyal hastalığı saptamada önemli bilgiler verir. Ragged red lifler ve sitokrom oksidaz negatif lifler mitokondriyal bozukluğun morfolojik bulgusudur. Bu çalışmada kas biyopsilerinde mitokondriyal anormallik saptanan olguların klinik özelliklerinin analiz edilmesi amaçlanmıştır. Metod: Mitokondriyal sitopati tanı kriterlerine göre, kas biyopsilerinde mitokondriyal anormalliği saptanan olguların demografik ve nörolojik özellikleri, başvuru semptomları, eşlik eden sistemik tutulumları, sendromik özellikleri retrospektif olarak incelenmiştir. Bulgular: İncelenen 936 kas biyopsi örneğinden, 118'inde mitokondriyal anormallik görüldü. Seksendört hastada klinik ve histopatolojik özelliklerine dayanarak primer mitokondriyal hastalık düşünüldü. 34 hastada ise tanı klinik özellikleri ve eşlik eden diğer histopatolojik bulgular ile mitokondriyal doğada olmayan hastalıklar saptandı, sekonder mitokondriyal bozukluk olarak değerlendirildi. Bu çalışmada en sık görülen sendrom 61 hasta ile kronik progresif eksternal oftalmopleji idi. 15 hasta izole proksimal miyopati, 4 hasta Kearns Sayre sendromu, 2 hasta SANDO, 1 hasta MNGIE, 1 hasta MLASA olarak değerlendirildi. Sonuç: Mitokondriyal anormallikler hem primer mitokondriyal hastalıklarda hem de sekonder bozukluk olarak pek çok hastalıkta görülür. Primer mitokondriyal hastalığı olanların çoğunda oftalmolojik ve nöromuskuler tutulum görülmektedir. Mitokondriyal hastalıkların kesin tanısı multidisipliner bir yaklaşıma dayanır, kas biyopsisi hem tanı hem de geniş bir grup hastalığın ayırıcı tanısı için yararlı bir incelemedir

Urinary Symptoms in Multiple Sclerosis: Relation with Urodynamic Findings and Impact on Patient’s Quality of Life

Objective: We aimed to investigate the correlations of urinary symptoms with urodynamic findings in patients with multiple sclerosis (MS) and their effects on quality of life. Methods: Nineteen MS patients with urinary symptoms were included. the data were obtained from files or with face-to-face interviews. Symptom types of patients were categorized as irritative, obstructive, and mixed. the Incontinence Quality of Life Scale, the King’s Quality of Life Questionnaire (KQL) and the International Consultation on Incontinence Modular Questionnaire-Short Form were used to determine the effect of urinary symptoms on quality of life. the Extended Disability Status Scale (EDSS) was used to assess disability. All patients underwent urodynamic examination. Results: the most frequent finding in urodynamic testing was detrusor overactivity (57.9%) while 26.3% had normal urodynamics. EDSS score did not correlate with urinary symptoms or urodynamic findings; it correlated only with the “Role limitation” subscale of the quality of life scales. While there was no relationship between symptom type and quality of life, the rate of detection of pathological findings on urodynamic examination and the bladder capacity in patients with mixed-type symptoms were significantly higher than the patients with irritative symptoms (p<0.05). the ‘’Emotions’’ and ‘’Sleep/Energy’’ subscale scores of the KQL were significantly higher in patients with abnormal urodynamic test compared with those without urodynamic pathology. Conclusion: the urinary symptoms significantly affect the quality of life in MS patients. Since symptoms do not always correlate with the underlying pathology, it is more appropriate to give the treatment based on the bladder type in urodynamic testing

Vestibular impairment in Charcot-Marie-Tooth disease

Objective To find out if Charcot-Marie-Tooth (CMT) patients, who have peripheral vestibular as well as peripheral somatosensory impairment, have worse postural balance than those who do not. Methods We studied 32 patients with various CMT phenotypes and genotypes. Vestibular function was measured with the video head impulse test (vHIT) which tests vestibulo-ocular reflex (VOR) gain from each of the six semicircular canals in response to rapid head rotations. Postural balance was evaluated with a battery of four postural tests with emphasis on the modified clinical test of sensory integration in balance (mCTSIB). Results Half of the 32 patients had some impairment of vestibular function ranging from mild, affecting only 1-2 semicircular canals, to almost total affecting all 6 semicircular canals. Their mCTSIB scores correlated with VOR gain from the vertical rather than from the lateral semicircular canals. The worse the vertical VOR gain the worse the mCTSIB score. Conclusion We propose that any CMT patient could have clinically inapparent vestibular impairment that can be easily measured with the vHIT. This vestibular impairment could be contributing to their imbalance and could respond to a focused vestibular rehabilitation program

'Is RLS a harbinger and consequence of MS?: Striking results of the 'RELOMS-T' study'

Background: Although studies report a high prevalence rate of restless legs syndrome (RLS) among patients with multiple sclerosis (PwMS) ranging from 13.3 to 65.1%, little is known about the causes of this relationship. Methods: To ascertain the prevalence, features and impact of RLS among PwMS a nation-wide, multicenter, prospective and a cross-sectional survey, designed to reflect all of the PwMS throughout Turkey, was conducted in 13 centers. Exploring the relationship of the two conditions could possibly contribute to the understanding of the causes of the high and wide-ranging prevalence rates and the pathophysiology of both diseases. Results: Of the 1068 participants 173 (16,2%) found to have RLS [RLS(+)] and 895 (83,8%) did not [RLS(-)]. Among the RLS(+) 173, all but 8 patients (4,6%) were underdiagnosed in terms of RLS. More than half of the patients with RLS had 'severe' or 'very severe' RLS. The onset of RLS was before or synchronous with the onset of MS in about a half of our patients. Conclusion: We conclude that RLS should be meticulously investigated in PwMS and MS can be a direct cause of RLS at least in part of PwMS. Our data about the timing of the onset of MS and RLS, along with the high prevalence of RLS in PwMS suggest that the pathologic changes in the initial phases of MS can possibly trigger RLS symptoms