A rare cause of late dystonia: metachromatic leukodystrophy with adulthood onset (case report)

Metakromatik lökodistrofi aril sülfataz A eksikliği ile karakterize, serebral beyaz cevherde yaygın simetrik demiyelinizasyonla seyreden ve otozomal resesif geçiş gösteren bir hastalıktır. Otuz sekiz yaşında erkek hasta 8 yıl önce başlayan jeneralize tonik klonik nöbet geçirme, eş zamanlı başlayan tüm vücutta yaygın istemsiz kasılma şikayetleri ile başvurdu. Son 3-4 aydır yürümesinde dengesizlik, konuşmasında bozulma şikayetinin eklenmiş olduğu öğrenilen hastada jeneralize distoni tespit edildi. Kraniyal manyetik rezonans görüntülemede T2 ağırlıklı aksiyal ve koronal kesitlerde subkortikal, periventriküler, homojen yaygın hiperintens lezyonlar saptandı. Bu bulgularla metakromatik lökodistrofi tanısı kondu. Erişkin çağda başlayan metakromatik lökodistrofi, nöbet geçirme ve kişilik değişiklikleri ile kendini gösterebilir. Bu yazıda metakromatik lökodistrofi tanısı, klinik görünümleri ve tedavi seçenekleriyle ilgili olarak bir literatür gözden geçirmesi yaparak, metabolik hastalıklar içinde yer alan metakromatik lökodistrofinin erişkin başlangıçlı distonilerde görülebileceğini vurgulamak istedik.Metachromatic leukodystrophy is an autosomal recessively inherited disease, which is characterized by deficiency of arylsulfatase A enzyme and diffuse symmetrical demyelinization in cerebral white matter. A 38-yearold male patient admitted with the complaints of generalized tonic clonic seizures and common involuntary contractions in the whole body, which both had started 8 years ago. Generalized dystonia was detected in the patient in whom walking and speech disturbances additionally began 3-4 months ago. Diffuse subcortical, periventricular homogenous hyperintense lesions were detected in T2-weighted axial and coronal scans in cranial magnetic resonance imaging. The diagnosis of metachromatic leukodystrophy was established with all these findings. Metachromatic leukodystrophy with adulthood onset may present with seizures and changes in personality. We would like to emphasize that metachromatic leukodystrophy, one of the metabolic diseases, may be encountered as a cause of adulthood onset dystonia by making a literature review about the diagnosis, clinical presentation and treatment choices of the disease in this paper

Gerginlik antremanı ile ortaya çıkan idrar inkontinensi

Bacaklarına yaptırılan gerilme egzersizleri sonrasında idrarda aciliyet hissi gelişen, 47 yaşında bir bayan hasta sunulmaktadır. Gerginlik hareketlerinin filum terminal gerilmesine neden olarak mesane fonksiyon bozukluğuna neden olduğu düşünülmüştür. İlginç olan ise, gerginlik hareketlerine son vermesinden sonra hastadaki idrar aciliyeti hissi kaybolmuştur. Yaklaşık 4 yıllık izlemde sorun yaşanmamıştır. Literatürde bu tip olgular bildirilmiştir. Gerginlik egzersizinden sonra gelişen idrardaki aciliyet hissi, sadece bu yakınma olmasına rağmen bizi uyarmış ve hastayı gergin konus medüllaris açısından araştırmamıza neden olmuştur. Sonuç olarak bu tip yakınmalara duyarlı olmak ve altta yatan nedenin gelişim anomalisi olabileceğini düşünmek yararlı olacaktır.A 47-year-old female patient who experienced urinary urgency after having stretching exercises of her legs is presented. Stretching of the legs are thought to be responsible for conus medullaris tethering which in turn causes urinary complaints. What is interesting in this case is that her complaints about urinary urgency stopped as she quit stretching exercise movements of her legs. There are some examples of such cases in the literature. The urinary urgency after stretching exercises warned us to investigate this patient in regard to tethered conus medullaris. Tethering of the conus medullaris can be temporary and can cause reversible functional disorders of the bladder. Incontinence at any age should be evaluated cautiously as it could be a sign of an underlying important developmental failure

The Efficacy of Botulinum Toxin A Intramuscular Injections in After-Stroke Spasticity

OBJECTIVE: Spasticity is a common dysfunction in stroke patients. It hinders the performance of everyday living activities and lowers the quality of life. In this study, it was aimed to investigate the effects of botulinum toxin A therapy on various aspects, such as muscle tone, pain, daily living activities and disability. METHODS: Fifteen patients with stroke presenting with focal spasticity in the botulinum toxin outpatient unit were evaluated. Results before and after treatment were evaluated by applying different scales. Modified Ashworth Scale was applied for the severity of spasticity. The Medical Council Research Scale was used to test muscle power, and the disability scoring scale, Visual Analogue Pain Scale and Barthel index were the other measures tested. RESULTS: It was found that therapy with botulinum toxin A was effective in spasticity. The increased muscle tone and the disability scores decreased prominently after the treatment (p< 0.05). Lower values in pain scores (p< 0.05) also contributed to better functional outcome (p< 0.01). Along with the significantly good outcome according to the scales, the higher scores in quality of life, feeling of well-being, good performance during the physiotherapy sessions, and less medications needed for spasticity were also indications in commencing the therapy of botulinum toxin A in spasticity. CONCLUSION: Spasticity is a complicated condition causing serious disability. Botulinum toxin A is a preferred therapy when there is an increased motor activity. The effects of the agent are reversible and reliable. The duration of the treatment is long-lasting. Since botulinum toxin A is easily applied and the outcome in focal spasticity is favorable, it is recommended as the first-line choice in the treatment of focal spasticity

Webino syndrome presented with pontine hematoma

Webino syndrome is considered a special form of bilateral internuclear ophthalmoplegia.It is characterized by bilateral absence of adduction, nystagmic abduction of both eyes, convergence deficiency and mostly with exotropia. Ischemic, demyelinating and infectious etiologies have been described. A 57 years old male patient is found worthy for presentation since there are eye findings compatible with very rarely encountered Webino syndrome secondary to pontine hematoma

Evaluation of Cognitive Function Using Objective and Subjective Tests in the Obstructive Sleep Apnea Syndrome

Objective: The primary and secondary consequences which related to obstructive respiration to occur during sleep cause cognitive, emotional and behavioral changes indirectly. Aim of the present study was to evaluate quality of sleep and relationship between quality of sleep and cognitive function at baseline and during treatment in the patients having diagnosis of severe Obstructive Sleep Apnea syndrome (OSAS) being followed in sleep laboratory. Materials and Methods: Pittsburg, Epworth and Stroop tests to assess patient attention; P300 test was applied for the evaluation of memory and attention. Results: When the pre-treatment and post-treatment cognitive functions of the patients were compared; there was a significant decrease in daytime sleepiness after treatment (p=0.000) and a significant improvement in latency of P300 test (p=0.000-p=0.001-p=0.004). In Pittsburgh study; the pre-treatment total sleep quality scores were consistent with poor sleep quality, while the mean value obtained after treatment was found to be related to the healthy sleepiness (p=0.000). In the Stroop test for measuring attention, the rate of error correction obtained after treatment was significantly improved (p=0.010). Conclusion: In patients diagnosed with severe OSAS; the negative effects of disease on attention, alertness, and memory, challenges on maintaining the attention and its negative effects on the structure of sleep has been shown by using Stroop, Pittsburgh, P300 and Epworth tests unlike other publications. As a result of the tests performed after the treatment, the fact that it is an important development in the disease shows us how the treatment is important and necessary

Validity and Reliability of the Turkish Migraine Disability Assessment (MIDAS) Questionnaire

Objectives.-The aim of this study is to assess the comprehensibility, internal consistency, patient-physician reliability, test-retest reliability, and validity of Turkish version of Migraine Disability Assessment (MIDAS) questionnaire in patients with headache. Background.-MIDAS questionnaire has been developed by Stewart et al and shown to be reliable and valid to determine the degree of disability caused by migraine. Design and Methods.-This study was designed as a national multicenter study to demonstrate the reliability and validity of Turkish version of MIDAS questionnaire. Patients applying to 17 Neurology Clinics in Turkey were evaluated at the baseline (visit 1), week 4 (visit 2), and week 12 (visit 3) visits in terms of disease severity and comprehensibility, internal consistency, test-retest reliability, and validity of MIDAS. Since the severity of the disease has been found to change significantly at visit 2 compared to visit 1, test-retest reliability was assessed using the MIDAS scores of a subgroup of patients whose disease severity remained unchanged (up to +/- 3 days difference in the number of days with headache between visits 1 and 2). Results.-A total of 306 patients (86.2% female, mean age: 35.0 +/- 9.8 years) were enrolled into the study. A total of 65.7%, 77.5%, 82.0% of patients reported that "they had fully understood the MIDAS questionnaire" in visits 1, 2, and 3, respectively. A highly positive correlation was found between physician and patient and the applied total MIDAS scores in all three visits (Spearman correlation coefficients were R = 0.87, 0.83, and 0.90, respectively, P 0.7) or excellent (>0.8) levels in both patient and physician applied MIDAS scores, respectively. Total MIDAS score showed good test-retest reliability (R = 0.68). Both the number of days with headache and the total MIDAS scores were positively correlated at all visits with correlation coefficients between 0.47 and 0.63. There was also a moderate degree of correlation (R = 0.54) between the total MIDAS score at week 12 and the number of days with headache at visit 2 + visit 3, which quantify headache-related disability over a 3-month period similar to MIDAS questionnaire. Conclusion.-These findings demonstrated that the Turkish translation is equivalent to the English version of MIDAS in terms of internal consistency, test-retest reliability, and validity. Physicians can reliably use the Turkish translation of the MIDAS questionnaire in defining the severity of illness and its treatment strategy when applied as a self-administered report by migraine patients themselves